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Panos Englezos Prize International Thalassaemia Day 2016 2nd MEGMA Conference on Thalassaemia and other Haemoglobinopathies
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CONTENTS 2nd MEGMA Conference on Thalassaemia
Panos Englezos Award Ceremony 6 May 2016, University of Nicosia, Cyp
and other Haemoglobinopathies
International Thalassaemia Day 2016 -
Workshop "Media and the Patients' Voice"
Patient’s Story
Cover Photograph by Iris Loya (United States of America), winner of the first prize of TIF's 2016 Photography Contest (read more on page 19).
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Chief Editor Dr Androulla Eleftheriou TIF Editor Liana Prastiti
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Design and Layout Liana Prastiti Images and Graphics StockInDesign Freepik Pixabay
Medical Corner
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Proof Reading Dr Michael Angastiniotis
TIF activities around the world International Collaborations
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Panos Englezos Prize
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International Thalassaemia Day 2016
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TEAM
2nd MEGMA Conference on Thalassaemia and Other Haemoglobinopathies TIF Publications TIF's Member News Patient Story TIF's Projects
TIF BOARD
MEMBERS Panos Englezos, President Shobha Tuli, Vice President Loizos Pericleous, Secretary George Constantinou, Assistant Secretary Riyad Elbard, Treasurer Her Highness Sheikha Sheikha Bint Elena Mylona Seif Al-Nahyan Anton Skafi Christina Stephanidou Duru Malyali Fatemeh Hashemi Ivan Dimitrov Ivanov Loris Angelo Brunetta Mouna Haraoui Ramli Mohd Yunus Robert (Bob) Ficarra Saeed Jafaar Al-Awadhi Gabriel Theophanous
TIF's Smart Phone Applications TIF’s Thal e-Course Medical and Scientific Update Industry news Calendar and upcoming Events Collaborating Patients’, Disease and other Organizations
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WHO news
Technical specifications for photographs 1. Photographs submitted for TIF Magazine should be in JPEG format (although .PDF and .TIFF are also accepted). 2. Photos should be “print quality”. This means: • The largest size possible. Please do NOT reduce the images! Send them either one by one via email, or alternatively on a CD. • High-resolution (at least 300 dpi). Please ensure that when transferring photos from a digital camera, a high resolution is selected (How this is done depends on the camera model.) 3. All photos should have captions - a short text explaining what is happening in the photo and the names of the people in the photo. 4. It is the responsibility of the person submitting photos to ensure that any person(s) featured in them has given their permission to publish the photo. Disclaimer: Reproduction of material published in TIF Magazine for educational purposes is encouraged, provided it is accompanied by the following attribution “…according to TIF magazine, the official newsletter of the Thalassaemia International Federation”. The contents of any scientific article or presentation of any material by manufacturers does not imply the expression of any opinion on the part of Thalassaemia International Federation. The mention of specific companies or products does not imply that they are endorsed or recommended by TIF in preference to others. The contents express the opinions of the authors who alone are responsible for the views expressed. TIF does not accept any legal responsibility for their contents.
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TIF around the world Eastern Mediterranean Region (EMR)
the formation of private/public partnerships between thalassaemia Non-Governmental Organizations (NGOs) and national health authorities for the benefit of patients with thalassaemia were also extensively discussed.
Exciting New Chapter Unravels for Pakistan
Finally, the TIF contingent met with the Director General of the Bait-Ul Mal Foundation** (http://www.pbm.gov. pk/defaulteng.html) and extensively discussed the ways through which thalassaemia programmes may be supported by the foundation. Consequent to this fruitful meeting, TIF developed and forwarded a project proposal for joint activities in Pakistan, to which TIF anticipates receipt of an official response.
Pakistan is a highfrequency and highprevalence country, with 22,000 known and up to 50,000 or more possible patients and up to 6,000 new cases added each year. Thalassemia constitutes a major challenge to the national healthcare system of Pakistan with its consequent medico-socioeconomic repercussions, not belittling the pain and suffering to the patients and their families. To focus on the needs of the patients in this country, TIF has had a number of activities and has achieved a high level of constructive collaboration with many health professionals and patients/parents. In 2016, TIF realized a delegation visit between the 5th and the 6th of April in Islamabad, which was in continuation to a visit in November 2015. The current visit followed an official invitation for participation in a series of blood safety and thalassaemia control policy development workshops, organised by the Blood Safety Programme of Pakistan, in collaboration with the National Health Authorities of the country. The suggestion was to present the Ministry national Policy on Thalassaemia, and this was finally achieved. In the course of this visit, the TIF contingent, comprised of Dr Michael Angastiniotis (TIF medical advisor) and Mr Stavros Melides (ex-TIF board member and patient advocate) had the opportunity to discuss with provincial stakeholders the issue of prevention and patient care matters, which are of great importance for the provinces. In addition, the need to promote the quality control of centres, the reduction of out-of-pocket expenses, and
Pakistan Bait-ulMal (PBM), an autonomous body set up through a 1991 Act. PBM is a fund significantly contributing toward poverty alleviation through its various poorestof-the- poorfocused services and providing assistance to the destitute, widows, orphans, invalids, the infirm, and other needy persons, as per eligibly criteria approved by the Bait-ul-Mal board. The managing director, barrister Abid Waheed Sheikh, was sensitised to the plight of thalassaemia patients through the experience of patients who were having difficulties in the provision of treatment and the effect that this chronic disease was having on their families. His kind response has benefitted around 1,500 poor thalassaemia patients who are now supported by PBM for both blood supply and chelation therapy. In addition, PBM built the Pakistan Thalassaemia Centre in Islamabad.
Western Pacific Region (WPR) AUGUST 2016 www.thalassaemia.org.cy
7 China’s Continued Fight for Better Care
Officials and NGOs have now turned their focus on instigating improvements in patient care, and with the signed strategic agreement between TIF and the newly founded Thalassaemia Chinese Federation (TCF) (December 2015), TIF proceeded to build on policies and discussions that are focused on materialising the plan of agreed activities, aiming to promote of the quality of healthcare services and by extent of the health and quality of life of thalassaemia patients. As part of the next steps forward in China, TIF organised a delegation visit between the 13th and 18th of May 2016 to Guangxi and Hainan provinces. The main focus of the TIF delegation, comprising Dr Michael Angastiniotis (TIF medical advisor) and Prof Antonio Piga (director of the Turin Thalassaemia Centre), was: 1. to visit existing services in Guangxi and Hainan provinces in order to establish the level of care currently available (from primary to tertiary care); 2. to offer expert advice on the development of centres of excellence for thalassaemia management (as per the signed agreement of collaboration in December 2015); 3. to promote the establishment of a network of support for secondary centres; 4. to meet with patients with a view to reporting their concerns, and; 5. to sign a strategic cooperation memorandum for the further promotion of thalassaemia prevention and management between the China Thalassaemia Alliance, the Beijing Normal University China Philanthropy Research Institute (CPRI), and the Thalassaemia International Federation (TIF) across China, in order to fulfil a plan for the development of services in the country; to this effect, CPRI has agreed to host (act as) the TIF China liaison office. As a consequence of the above-mentioned delegation visit, a Chinese delegation will visit Cyprus in September 2016, with a view to having an educational workshop in a country setting where all aspects of thalassaemia control (prevention and management, including multidisciplinary care) have been running successfully for years. The visit
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South East Asian Region (SEAR) India: committed to moving forward... India: Committed to Moving Forward Having successfully completed capacity-building activities in India and the preparation of the charter of demands of the state task force groups to the health authorities of eight states (Delhi, Maharashtra, Gujarat, Punjab, Haryana, Madhya Pradesh, Utter Pradesh, and Chandigarh) in the context of a project that started in 2013, TIF is now making every effort to keep and strengthen the momentum by assigning a responsible and dedicated person to monitor and report all developments in the eight states in collaboration with TIF’s consultant for the region, Usha Menon*, and plan on expanding activities to other states. BioRad Tour, April 2016 BioRad, a company excelling in diagnostics and a longterm collaborator of TIF’s, extended an invitation to TIF to participate through its medical advisor in the faculty of speakers in a prevention/thalassaemia laboratory aspects tour of India between the 16th and 20th of April 2016. The visit included New Delhi (Delhi state), Kolkata (Western Bengal), and Mumbai (Maharashtra). BioRad has been organising such seminars for training on screening in several cities in India over the years. The seminars include one invited international speaker and other local experts. For the 2016 programme, Dr Michael Angastiniotis was invited on behalf of TIF. The programme included overview talks on the diagnostic problems that are encountered in haemoglobinopathy screening, discussion on resolving such cases, and presentations of difficult cases. BioRad launched its new Library of Variants to assist laboratories in the recognition of variants. States’ representatives (Task Force Members): Mr Vinay Shetty – Maharashtra Dr Vinky Rughwani – Maharashtra Mrs Shobha Tuli – Delhi Dr J. S. Arora – Delhi Dr V. K. Khanna – Delhi Dr. V. P. Choudhury – Delhi Dr Madhuben Naik –Gujarat Dr Anil Khatri – Gujarat Dr Maulik Bakshi –Gujarat Dr C. B. S. Dangi – Madhya Pradesh Mr Girish Ahuja – Madhya Pradesh Mr Rajesh Kapoor - Punjab Dr. P. C. Sobti – Punjab Mr Rajinder Kalra – Chandigarh Mr Arjun Singh – Chandigarh Mr Ravinder Dudeja – Haryana Mr Ram Kumar – Haryana Dr Jalbala Sardana – Uttar Pradesh Mr Mukesh Agarwal – Uttar Pradesh In the course of this tour, TIF’s representative had the
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TIF’s activities in China, previous delegation visits in the country, the collaboration between TIF and many officials of the provincial and central government level, and very importantly with the Family Planning Bureau of China since early 2010 have led to significant advances in the area of prevention in the Guangxi and Guangdong provinces. Gradually, all other affected provinces, which are mainly in the South of China, are following their example and are setting up their own programmes.
will be held under the auspices of the Cyprus Ministry of Health (MOH) and will be participated in by country officials and related medical specialists. Thereafter, a more consolidated plan of activities for 2017 will be developed.
8 opportunity to meet state task force leaders and review the progress in the various states that participate in the Indian project, as well as across the country. It is important to underscore that, in the course of his visit in Kolkata, the TIF delegate had the opportunity to meet with key medical professionals in the field of haemoglobin disorders, as well as with government officials, where their thalassaemia programme (which includes screening, prenatal diagnosis, iron chelation, blood transfusion, and multi-disciplinary care services) was officially endorsed by the state government of West Bengal. In Maharashtra, the delegate had also the opportunity to meet with Mr Vinay Shetty**, a dedicated patient who has been designated by TIF as the Indian project coordinator. Together, they had set out a series of actions and tasks that will assist in the promotion and propagation of the Indian project in other states for 2016–2018.
Through the various discussions, it became apparent that the benefits from the advances that have occurred in Romania in recent years are hampered by some weaknesses in the system, which need to be addressed appropriately so that patients with haemoglobin disorders would enjoy a much improved quality of life. Consequently, all stakeholders agreed to collaborate closely with TIF in order to encourage the national health authorities in (1) instigating improvements by non-remunerated blood donation practices, in order to increase the blood supply; (2) advocating for the inclusion of thalassaemia in the rare disease programme; (3) establishing a national patients’ registry that will assist national health authorities’ efforts in developing more effective and efficient planning of services and associated budgets; and (iv) implementing a national prevention programme for thalassaemia in an attempt to minimise new affected births.
Special thanks to TIF’s board member and lay teams’ devoted supporter of the India thalassaemia community through her TIF work globally, Mrs Tuli Shobha.
In addition, it was also noted that patients with thalassaemia need to strengthen their knowledge on their disease and the new advances. It was therefore recommended that patients should be encouraged to visit and participate in TIF’s electronic educational platform. Based on the preceding information, a detailed plan of action for Romania was developed and agreed upon; it is currently in progress.
*Usha Menon is CEO of a management consultancy based in Singapore. Her company specialises in supporting non-profit and social purpose organisations, with the aim of capacity-building, strengthening skills, and fundraising. In this capacity, she has assisted TIF in its capacity-building workshops for thalassaemia associations in India, and in creating task force groups in each state in order to promote demands to health authorities for the promotion of services for thalassaemia. She continues to work closely with TIF and its India project coordinator, Mr Vinay Shetty. **Mr Vinay Shetty is vice-president of the Think Foundation and an active collaborator of TIF, who is now TIF India project coordinator. His activities for thalassaemia through the Foundation and also as a state task force representative in the Charter of Priorities project have underlined his commitment and ability, ensuring that the project for improving the lives of patients in India and promoting a control programme will bear fruit. Anubha Tanjela, a lawyer and a thalassaemia patient, is also willing to work on TF's India project. She will collaborate with Mr Vinay Shetty on the project.
European Region (EUR) Promising times ahead for Romania Prompted by various personal communications from patients raising their concerns with regards to their treatment, TIF organised a delegation visit in this country between the 24th and 25th of March. The delegation comprised of Dr Michael Angastiniotis, TIF medical advisor, and Dr Christina Stephanidou, a patient, medical microbiologist by profession, and TIF board member representing Greece. The aim of the visit was (1) to get a true evaluation of the current situation pertaining to the treatment of thalassaemia and, (2) having assessed the situation, to discuss and jointly develop an action plan for Romania with all involved stakeholders (patient leaders and medical professionals).
**Radu Costin Ganescu is the president of the national Coalition of Organisations for Patients with Chronic Conditions of Romania (COPAC). He is a founding member and president of the Romanian Association for People with Thalassaemia, which he has headed since 2005. This association in 2008 became a voting member of TIF. Radu joined the European Patients Forum (EPF) board in May 2015, and is its treasurer. Turkey Prepares for a Brighter Future TIF was invited by the Turkish Thalassaemia Federation and the lead of its scientific advisory panel, Prof Yesim Aydinok, to participate in the Turkish Thalassaemia Conference on the 31st of March 2016. TIF was represented by Dr Michael Angastiniotis, TIF medical advisor. This visit gave the opportunity for TIF delegates to meet and get updated by the representatives of the Thalassaemia Federation of Turkey (TFT) on their issues of concern. It became apparent through discussions in the context of this visit but also other opportunities through which TIF had collaborated with the TFT in the past, that patients in Turkey need considerable strengthening of their knowledge of their disease and of new advances. In addition, in some regions of the country, patients face difficulties in accessing health services, and in order to have a clearer picture of the situation pertaining to health care services, more detailed information is needed. In this context, it was mutually decided that TIF would develop a questionnaire for patients/parents with a view to obtaining more detailed information in collaboration with TFTs scientific advisory board. The information collected will be analysed with a view towards producing a charter of priorities to be used by TFT as an advocating tool to work more productively with the health authorities at the local and national level, in order to instigate further improvements regarding health care services for thalassaemia patients.
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International Collaborations
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European Hematology Association (EHA), Copenhagen, Denmark, 9th to 12th of June 2016 and European Reference Networks (ERNs)
IF participated for the sixth consecutive year in the Annual Congress of the European Hematology Association (EHA), EHA21, held in Copenhagen, Denmark, between the 9th and 12th of June 2016. Gathering over 10,000 participants from across the world, the Congress combined sessions and a diverse range of topics around haematology, highlighting state-of-the-art clinical practice, recent advances, new data, and views from different stakeholders and international organizations. Specific sessions and industry symposia focused on thalassaemia and other haemoglobinopathies, with emphasis on the new developments in research,
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11 What are ERNs?
Subsequently, the objectives of ERNs encompass better access of patients to highly specialised and high-quality and safe care, European cooperation on highly specialised healthcare, pooling knowledge, improving diagnosis and care in medical domains where expertise is rare, helping Member States with insufficient numbers of patients to provide highly specialised care, maximising the speed and scale of diffusion of innovations in medical science and health technologies, and being focal points for medical training and research, information dissemination, and evaluation were discussed.
as well as the changing epidemiology of haemoglobin disorders, which gathered a significant audience of interested haematologists in these non-malignant disorders. The Relevance of Changing Epidemiology and New Therapies for the Management of Patients with Common Haemoglobin Disorders session provided the opportunity for the Federation, through the participation of Dr Androulla Eleftheriou (TIF executive director), to present the patient perspective on the migration of haemoglobinopathies in Europe. The panel included eminent experts in the field, namely of Prof J. Porter (UK), Prof A. Taher (Lebanon), Prof M. D. Cappellini (Italy), Dr V. Viprakasit (Thailand), and Dr F. Piel (UK), in addition to Dr Eleftheriou. The session aimed to (1) bring together haematologists to highlight the impact of migration on the prevention and treatment of haemoglobin disorders in European countries, (2) discuss the requirements and provide guidance on best clinical practice to optimize successful patient management, (3) provide an overview of successful patient management programmes from endemic countries, and (4) encourage attendees to consider future challenges and offer potential solutions to manage the influx of patients. The role of the Federation as a leader and integral part of the EHA Patient Advocacy Group has been well established through TIF’s involvement in the development of the Patient
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Eligible for inclusion in these ERNs will only be centres that are officially designated as National Reference Centres by the national health authorities (e.g., Ministry of Health), based on the Commission Delegating Decision (2014/286/EU) and Commission Implementing Decision (2014/287/EU). The purpose is not to create new care centres, but to link existing ones and/or recognise existing networks. These networks will work as permanent platforms at the EU level. Another added value of such an initiative, is the encouragement and motivation of medical specialists in the field of haematology (encompassing malignant and non-malignant haematological diseases) to develop expertise on rare haematological disorders. Rare blood disorders have been defined by the European Commission and the EU Commission Expert Group on Rare Diseases as one of the 22 disease areas that can apply to form an ERN. This will give birth to a pan-European infrastructure to foster research and improve patient care. More information on ERN’s can be found at http://ec.europa.eu/health/ern/policy/index_ en.htm.
Advocacy Track of the Congress. This year, the hot topic was the development of a European Reference Network (ERN) for haematology (EuroBloodNet ERN). The Collaboration in Networks to Improve Treatment and Care: a European Reference Networks patient advocacy session was chaired by Sophie Wintrich from the MDS Alliance and Jan Geissler from the CML Advocates Network. Speakers included Enrique Terol from the European Commission, the previous rare haematology ERN (EuroBloodNet ERN) coordinator Joan-Lluis Vives Corrons, Ananda Plate from Myeloma Patients Europe (MPE), and Till Voigtländer from the Board of Member States. The session was followed by an EHA Patient Fellows capacity-building training session, Patient Involvement in European Reference Networks and in the Haematology ERN, run by Matt Johnson from EURORDIS and focusing on the European Patient Advocacy Groups (ePAGs) with participation from EuroBloodNet ERN coordinator Prof Fenaux. Breakout sessions then provided members with an opportunity to ask questions on ERNs, on the process for first call for ERNs, and on how their patient organisations can be part of the ERN. These discussions on the EuroBloodNet ERN were very timely, as the deadline for applications was nearing (21 June 2016). It is
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Acknowledging that access to specialised services for rare diseases, varies widely across the EU, and that more efficient and coordinated sharing of resources and expertise is needed, it was considered that better access can be achieved through the creation of European Reference Networks (ERNs), as outlined in Article 12 of the Directive on Patients’ Rights in Cross Border Healthcare (2011/24/EU). This is especially beneficial in rare or low-prevalence complex diseases or conditions that require a concentration of resources or expertise.
12 expected that, before the end of the year, ERNs will be created as legal entities by the EU, providing for the first time a unique opportunity to work across borders in Europe where expertise is scarce. The core of these networks will be to develop and manage cohorts and registries, best practices of diagnostics and care, and clinical trials. These platforms and networks of clinicians, researchers, and patient organizations are essential to coordinating research, developing guidelines, and coordinating care and sharing knowledge and resources across the EU. ERNs aim to address common challenges faced by professionals when diagnosing and providing highly specialized healthcare in complex, rare, or low-prevalence diseases. Enhancing Patient Engagement in European Reference Networks: The European Patient Advocacy Groups (ePAGs) Patients are represented and active participants in the ERN development process via the European Patient Advocacy Groups. Each ePAG corresponds to one of the 22 ERN groupings and brings together elected patient representatives and patient organisations who will ensure that the patient voice is heard in the development, programming, and evaluation of ERN initiatives and activities. Today, 86 patient representatives, including 5 representatives for haematology, are elected in these groups. We are very proud that eminent TIF Board Member Mr Angelo Loris Brunetta (Associazione Ligure Thalassemici Onlus) has been elected as a member of the rare haematology ePAG. The other elected members are Amanda Bok (European Haemophilia Consortium), Jan Geissler (Leukemia Patient Advocates Foundation), Ananda Plate (Myeloma Patients Europe), and Sophie Wintrich (MDS UK Patient Support Group). All rare haematology ePAG members have actively participated in the development of the EuroBloodNet application and successfully ensured that the patient voice is fully represented in the ERN board and sub-clinical committees—a great achievement and a milestone in increasing the role of patients in clinical care as it evolves in Europe. It is important that the patient communities involved in ERNs grow, and that patient representatives and clinicians evolve how they work together in the newly established system of ERNs. 2nd Conference on Liver Disease in Thalassemia, 3rd to 4th of June 2016, Athens A group of eminent haepatologists and haematologists in Greece, with Prof Yves Deugnier, a French Hepatologist, Prof Sanaa Kamal, a hepatologist from Egypt and Prof Caterina Borgna Pignatti from the University of Ferrara, Italy, took part in this interesting seminar,
organised by Dr Demetrios Koundouras, an expert in the study of liver disease in thalassaemia. The objective was to identify the causative factors of liver disease in thalassaemia, aiming to upgrade where possible and significantly contribute to the existing international guidelines for the management of thalassaemia (TIF's Guidelines for the Management of Transfusion Dependent Thalassaemia, 3rd Edition, 2014, chapter 5). The conference was attended by Dr Androulla Eleftheriou and Dr Michael Angastiniotis on behalf of TIF. TIF participated and contributed through its global experience in the field. The discussion involved, in a more focused way, health professionals across various disciplines who investigate or treat liver disease in thalassaemia. In addition, and very importantly, the conference provided an expert forum for sharing knowledge and experience and discerning the great advances that have occurred in the field for anti-viral drugs for HCV in particular. The results of the conference, when finalized, could open up horizons for new research in this area, liver disease being a key concern in thalassaemia globally. The conference programme was divided into four sections. Each section represented a phase of the natural history of the liver disease associated with thalassemia. The conference provided a forum for the exchange of therapeutic experiences in this very challenging field. It also gave impetus for the preparation of a therapeutic consensus for medical specialists and for the development of more research, the results of which could contribute to the upgrading of the existing national, regional, and international guidelines in this field. The complications of the liver in thalassemia are multiple , and we anticipate with great interest the new developments and advances in this field. The conclusion of the conference is that damage to liver cells can be limited, even in the presence of viral hepatitis, if adequate iron chelation is maintained, keeping the free toxic radicals at bay. Click here for more information: https://www.youtube.com/user/ekdiloseismitera, European School of Haematology (ESH) A training course on the diagnosis and management of very rare red cell and iron disorders was organised by European School for Haematology (ESH) in collaboration with the ENERCA project team in Lisbon, 20th and 30th of January 2016. The introductory lecture to the course was given by Dr Michael Angastiniotis, with the title “An Overview of the Epidemiology of Very Rare Anaemias.� In his talk, he emphasised that the need to understand the real burden of disease is an important issue in public health, particularly in the field of rare diseases. Registries, health records, and other databases are essential
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The programme included discussion on each group of the rare anaemias by leading European experts, describing diagnostic and management aspects. Abnormal iron metabolism and new treatments of dyserythropoiesis were also presented. Visit the link below for the conference programme: http://issuu.com/ internationalthalassaemiafederation/docs/ scientific_programme_esh-enerca_tra International Alliance of Patients’ Organisations (IAPO) We are delighted to announce that TIF is now officially involved at the global level through Dr Androulla Eleftheriou’s recent election to the Governing Board of the International Alliance of Patients’ Organisations (IAPO). IAPO is a unique global alliance representing patients of all nations across all disease areas and promoting patientcentred healthcare across the world. IAPO has contributed immensely through its work across the world in the field of patients’ organisations and very importantly in raising and brining to the forefront major patients’ concerns, including safety, health equity, access to treatment, clinical trials, counterfeit medicines, innovation, patient information, and health literacy around the world. We truly hope that the expertise we are going to share from now on with IAPO members will help TIF promote the equity of health of all patients with thalassaemia, but also with upgrading patients’ organizations across diseases across the world. TIF is also very confident that Dr Eleftheriou’s vast and multisided involvement for nearly two decades in the field of haemoglobin disorders and through that to haematology and a vast array of public health issues will contribute positively and productively to the work of IAPO. Dr Eleftheriou’s first official task as a new member of the Governing Board of IAPO was to represent TIF at a side meeting during the 69th WHA in Geneva (25th–26th of May 2016). Dr Eleftheriou was invited to Geneva to talk about the value of international collaboration. You can find more information about the elections by reading the article available at
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the following link: https://www.iapo.org.uk/ news/2016/may/5/ five-additions-iapo-governingboard. A short biography of Dr Eleftheriou can be found here: http://www.thalassaemia.org.cy/…/t…/ dr-androulla-eleftheriou. History International Alliance of Patients’ Organizations (IAPO)’s journey began in 1994 when a number of global representatives met at healthcare conference around the world. During these conferences, throughout 1994, 1995 and 1996, it was identified that there was a real need for an international alliance of patient organizations. Just three years later, the IAPO was formed. Members are at the heart of this... Members share IAPO’s beliefs that patients should be at the centre of healthcare. Its membership is a growing network of patients' organizations working at local, national, regional, and international level to represent and support patients, their families and carers. They cover a wide range of disease types and conditions, and work together to strengthen the global patient voice. Vision and mission IAPO’s vision is that patients throughout the world are at the centre of healthcare. Its mission is to help build patient-centred healthcare worldwide. IAPO does this by: • Realizing active partnerships with patients' organizations, maximizing their impact through capacity building • Advocating internationally with a strong patients' voice on relevant aspects of healthcare policy, with the aim of influencing international, regional and national health agendas and policies • Building cross-sector alliances and working collaboratively with like-minded medical and health professionals, policy makers, academics, researchers and industry representatives. Working with communities of patients to get their voices heard by all those involved in healthcare IAPO represents people who suffer from diseases, disabilities, illnesses, impairments or syndromes. They work with communities of patients to get their voices heard by all involved in healthcare. And with the help of its members and collaborating organizations, IAPO’s work will not be complete until patient-centred healthcare is embraced throughout the world. For more information about IAPO, please click here: https://www.iapo.org.uk 10th European Patients’ Rights Day: Reducing Waste and Inefficiency in Healthcare Systems, Increasing the Quality of Patient Care We are delighted to share with you that TIF’s Executive Director participated in the multi - stakeholder conference entitled “Reducing
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tools for gathering information that help to define the epidemiology, clinical outcomes, and natural history of these rare diseases. Such information will help to improve quality of care and plan services, as well as to assist in research projects, including clinical trials and the recruitment of volunteer patients. EU policies concerning reference centres, networking, and cross-border health make the development of registries at the healthcare facility, national, and European levels imperative tools to facilitate the implementation of these policies.
14 Waste in Healthcare Systems, Increasing Efficiency and Patient Care� that took place between the 3rd and the 4th of May 2016 at the European Parliament in Brussels. The event was co-hosted by MEP David Borrelli, co-chair of the EFDD Group, and MEP Pier Nicola Pedicini, EFDD ENVI Committee Coordinator. The 2016 European Conference of the European Patients’ Rights Day focused on the fight to secure and effectively promote the rights of patients through cross-border directives (and subsequent national legislation), and to give patients the opportunity and the right to choose where to receive their treatment/ consultation within the EU. In addition, and very importantly, the conference focused on the fight against waste and inefficiency in healthcare systems in Europe and on the best practices to increase the efficacy and quality of patient care. The participants included leaders of civic and patient organizations coming from 25 countries, some of them outside the European Union, such
us Albania, Russia, Macedonia, and Switzerland. Amongst them were many representatives and leaders of 18 networks at the EU level, professionals and experts, companies and providers, and public relations agencies and other relevant stakeholders. During the conference, waste and inefficiency were discussed, as were the ways of tackling them, what is being done about them around Europe, and the roles and contributions of the public and private sectors, civic society and patient organizations. The report of a European study carried out to find out more about best practices in this regard was also distributed in this context. Some of the best practices were presented and discussed. To read more about the event, click here: http://www.activecitizenship.net/patients-rights/ projects/201-european-patients-rights-day-2016. html The biographies of the speakers can be found here: http://www.activecitizenship.net/files/patients_ rights/biografie-file-unico-2-05-16.pdf Please find below the programme and all the presentations: http://www.activecitizenship.net/ patients-rights/projects/201european-patients-rights-day-2016. html
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'Panos Englezos Prize' FOR THE FIRST TIME EVER THIS YEAR THE 'PANOS ENGLEZOS PRIZE' WAS AWARDED AT THE GRADUATION CEREMONY OF THE MEDICAL SCHOOL OF THE UNIVERSITY OF NICOSIA (UNIC) 4 MAY 2016, NICOSIA
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he Panos Englezos Award was established in 1994 by the TIF Board of Directors and its International Medical Advisory Panel. Until recently, it was awarded every two years (in the context of TIF’s International Conferences, which take place biannually) to an individual who (based on academic criteria and consensus) had made a scientific/ medical difference through his/her work on research in the field of haemoglobin disorders. The awarding of this prize was a unanimous decision of the TIF Board of Directors, the members of its Advisory Board and medical/scientific experts of international calibre following the death of the son of Panos Englezos, George, in 1993. This was a consensus gesture to honour and recognise the vast, invaluable, lifelong volunteer contribution of Mr Englezos himself, who, despite losing one of the most precious members of his family, never gave up on promoting and safeguarding the interest and rights of patients across countries, geographic boundaries, religions, gender, and social and cultural differences for equal access to quality health and other care. Panos Englezos, one of the founders of TIF and the Pancyprian Thalassaemia Association (PAS), has spent half a century volunteering in the health sector. The promotion of the rights of patients with thalassaemia worldwide for equal access to quality health and other care has been and still is his lifelong commitment. It is an honour and a privilege to announce that this award has now taken a more official direction through the adoption of the Panos Englezos Prize by the University of Nicosia Medical School, one of the top 100 universities in the world, to which the Medical School of St George’s is attached (https://www.nicosia.sgul.ac.cy). From 2016, the Panos Englezos Award, renamed Panos Englezos Prize, is jointly awarded by the University of Nicosia Medical School and TIF on a biannual basis on the occasion of its grand medical school graduation day. This prize will be given to an individual who has made an outstanding contribution in the field of haemoglobinopathies and more specifically in: • improving the public health sector with regards to haemoglobinopathies and/or • improving healthcare for patients with haemoglobinopathies and/ or • improving the quality of life of patients with haemoglobinopathies or other chronic genetic diseases and/or • scientific/medical developments with regards to the prevention, management, holistic care, and cure of haemoglobinopathies. The prize winner received a silver drop of blood (TIF’s logo) and a monetary award of $10,000. The Panos Englezos Prize was awarded for the first time this year at the graduation ceremony of the Medical School of the University of Nicosia, which was held on the 6th of May 2016 at the Strovolos
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The global thalassaemia family warmly congratulates Prof St Pierre for winning this prize, with special thanks for his kind donation of the monetary award of $10,000 to TIF in supporting its project on improving the measurement of iron loads in the liver and the heart of patients with thalassaemia in needy countries across the world. Professor Tim St Pierre, University of Western Australia, Perth, Australia Prof Tim St Pierre obtained his BSc with honours degree in physics in 1983 from the University of Liverpool, UK, and his PhD in 1986. He then secured a number of postdoctoral positions that included a two-year period at the Cooley’s Anaemia Foundation in New York, before progressing through the academic ranks to the position of professor in the Physics Department of the University of Western Australia, Perth, Australia in 1995. He is also currently executive director and chief scientific officer of Resonance Health, an Australian healthcare company specialising in the development and delivery of non-invasive medical imaging software and services. Prof St Pierre’s main scientific interests are in the application of physics to medicine and biotechnology, specifically in the fields of biomagnetics, magnetic nanoparticles for biomedicine, magnetic resonance imaging, and iron metabolism. His discoveries contributed immensely
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in determining the efficacy of iron chelators in different groups of patients and in measuring tissue iron levels using magnetic-based non-invasive technologies such as SQUID and MRI, more appropriately in thalassaemia patients. His research in this field led to the development of the R2-MRI approach to non-invasive measurement of liver iron concentrations. The instrument known as FerriScanÂŽ has been used on well over 30,000 patients so far in over 30 countries around the world. The use of the technology has played an important role in monitoring liver iron concentrations non-invasively in clinical trials of new chelators. Prof St. Pierre has published well over 160 peer-reviewed papers in the fields of iron and magnetism in biology, biotechnology, and medicine, in reputable scientific and medical journals in his field. In 2010, he won the Clunies Ross Award from the Australian Academy of Technological Sciences and Engineering for his work on the FerriScan, and in 2014, he became an Institute of Electrical and Electronics Engineers distinguished lecturer, giving lectures on Magnetic Materials in Medicine at 55 academic and industrial research institutions worldwide.
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Municipal Theatre in the presence of His Excellency the Minister of Health and other high officials of the Cyprus Government. The event was truly grand, and the first Panos Englezos Prize was awarded to Prof Tim St Pierre from Australia in recognition of his vast contribution and the measurable difference in the reduction of iron-related morbidity and mortality.
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8 May 2016
International Thalassaemia Day
W
e are delighted to share with you that the International Thalassaemia Day took place on the 8th of May 2016 with immense success and the avid and wide-reaching participation of the thalassaemia community across the world!
“Access to Safe and Effective Drugs in Thalassaemia”
This day was established in the memory of George Englezos, the son of Mr Panos Englezos, President of TIF and one of its founding members, with a long history of contribution and volunteering in the field of thalassaemia and the wider health sector. As previously mentioned, George Englezos passed away on 8 May 1994, and this day aims to pay respect and recognition not only to him but also to all those patients, parents, and families who have fought for a better future for those affected by this chronic disease and who are unfortunately no longer with us. Indeed, they have left to the world an immense and invaluable history of altruism, passion, and commitment and have paved the way for all of us to continue.
To celebrate this day, many activities took place as part of the International Thalassaemia Day festivities. TIF’s members organised and continued to do so throughout the month of May a variety of events ranging from blood donations, formal dinners, celebrations, debates, and conferences to marathons and other activities.
Like every year since 1994, this year, TIF honoured the International Thalassaemia Day with a different theme, aiming to fulfil the mission of enhancing lives and exceeding expectations for patients living with thalassaemia across the world. The theme for 2016 was:
This year’s theme is linked with TIF’s mission to ensure equal access to quality healthcare for all patients, so that they receive appropriate treatment and drugs, free of charge or reimbursed by the government, and in concurrence with the guidelines and standards of international experts.
This year, there was widespread participation from TIF’s member associations, with more than 20 awareness campaigns from more than 45 countries of the world in 22 languages and more than 10,000 participants. Therefore, this year’s 8th of May activities reached a very high level of success, and the goals of the organized activities, which were focused on expanding knowledge and awareness regarding haemoglobin disorders towards all age groups and social levels, were significantly achieved. Below is a list of all of TIF activities that took place during the month of May: • International Photography Contest 2016
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Photograph by Ravinder Dudeja, India
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Photograph by Iris Loya , USA
Photograph by Supriya Biswas, India
• Journalist Workshop titled “Media and the Patients’ Voice”
• Second Prize of $300: Supriya Biswas, India
• Video Challenge Competition
• Third Prize of $100: Photograph by Ravinder Dudeja, India
• Toolkit including a poster and a banner • Distribution of the anthem for thalassaemia, to be translated by our members in their own respective languages We also devoted a weekly blog for our members to share their plans for the 8th of May. We invite you to share your ideas for the day. Visit the blog at the following link: http://tif-8may-2016.weebly.com/ International Photography Contest 2016 The photography contest evaluation has been completed, and the winning entries have been selected! The selection process for the photography competition entitled “Enhancing Partnership towards Patient-Centred Health Systems: Good Health Adds Life to Years!”, organised by TIF has been completed! The aim of the contest was to raise awareness about thalassaemia, and its subject was based on this year’s theme for the 22nd International Thalassaemia Day. Winners of TIF’s International Photography Contest: • First Prize of $500: Iris Loya , USA
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We received a total of over 300 photographs, and we would like to thank all of our contestants for their participation. We were delighted to receive such optimistic and inspiring photographs! Anthem Translated and Sung in English for This Year's International Thalassaemia Day! As some of you may already know, an anthem for thalassaemia has been created in Greek by Mr. George Theofanous, a world-renowned composer, musician, and lyricist. The music for this anthem, “Precious Rubies,” was composed by him, and the lyrics were written by Mr. Stavros Stavrou. This composition was sung by the children of his musical workshop, and it was presented for the first time during TIF’s formal Musical Evening and Gala Dinner, held at the Presidential Palace on the 6th of May 2015 to honour last year’s International Thalassaemia Day. We are delighted to share with you that this anthem has now been translated and sung in English! You can listen to it by clicking the following link: https://www.youtube. com/watch?v=PiobBITigQs. We invite you to translate it into your language, so that we can spread the joyous and
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© prochkailo - Fotolia.com #68198034
8 May 2016 International Thalassaemia Day (cont.)
hopeful message conveyed by the anthem to all those affected by thalassaemia for International Thalassaemia Day 2016. In closing, we would like to express a special thank you to Mr George Theophanous, our musical ambassador, for his support and contribution to advocating for the rights of thalassaemia patients. Journalist Workshop entitled “Media and the Patients’ Voice” We are delighted to share with you that the workshop held on the 16th of May 2016 at the Journalists’ House in Nicosia was completed with great success. The workshop was organized by TIF in the context of International Thalassemia Day, which is honoured on the 8th of May, in collaboration with the Union of Cyprus Journalists, and the support of the Cyprus Alliance for Rare Diseases (CARD) and the Pancyprian Federation of Patients and Friends (POSPF). The purpose of the workshop was to discuss and exchange ideas and experiences on the role of patients in promoting health issues to the media. The keynote speaker at this workshop was the world-renowned journalist from BBC, Mr Matthew Hill, with whom TIF has developed a close and lasting partnership. BBC is certainly and undoubtedly one of the largest news agencies worldwide,
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with a long history of accurate and timely medical journalism. Among the key speakers were also Mrs Lela Kesidou, medical journalist/TV presenter at the Greek channel ERT 3; she has had a long and highly successful career in the field of medical journalism. The workshop was also attended by the Honourable Minister of Health of Cyprus, Dr George Pamporides. Click here to view the video of the workshop: https://www.youtube.com/ watch?v=uBHfbOz52do Click here to read the speech of Mr Panos Englezos: http://goo.gl/T9SUPh
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Click here for the presentation of Mrs Chrysta Ntzani: http://goo.gl/wpNnTY Click here for the presentation of Mrs Lela Kesidou: http://goo.gl/Bn4bD7 Click here for Matthew Hill's Presentation: http://goo.gl/NDwIkT Toolkit available! Click here for the poster: http://goo.gl/weKFgP
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Click here to read the speech of Dr Androulla Eleftheriou: http://goo.gl/Se4yb1
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YET ANOTHER EMPOWERING EDUCATIONAL ACTIVITY: ANOTHER INSPIRING PROGRAMME FOR HEALTH PROFESSIONALS AND PATIENTS/PARENTS JOIN US! DO NOT MISS THIS OPPORTUNITY!
TIF is delighted to announce the organisation of the long-awaited 2nd MEGMA Conference on Thalassaemia and Other Haemoglobinopathies, covering the Middle East (ME), Gulf (G), Maghreb (M), and African (A) regions. The Conference is organized in collaboration with the Jordanian Thalassemia & Hemophilia Society and the Ministry of Health–Jordan. It will take place between the 11th and 12th of November 2016 at Le Royal Hotel (Amman, Jordan).
Organized in the context of TIF’s internationally renowned Educational Programme, this regional conference will constitute a congregation of more than 400 of the most important actors in the field of thalassaemia and other haemoglobinopathies (both healthcare professionals and patients/parents) from over 22 countries. This will provide a unique forum for exchanging knowledge and experience and/or building up new and strengthening existing networks and collaborations.
The conference will comprise two parallel programmes, a scientific programme for medical specialists and another for patients/parents. These will cover a broad range of topics on the clinical management and multidisciplinary care of thalassaemia, and very importantly, novel and innovative treatment methods for thalassaemia and other haemoglobinopathies. Particular focus will be given to patient empowerment and patient–association capacity-building.
The conference programme is available here: http://goo.gl/4hDY5i.
More information on the conference is available at www.tifevents.org.
Online registration begins on the 1st of June 2016. Register here: https://www.tifevents.org/login.
Register Today!
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IF YOU HAVE β-THALASSAEMIA and require regular blood transfusions, you may be eligible to take part in an international clinical trial called the
BELIEVE Study.
Ask your doctor about the BELIEVE Study. Together, you can decide if this clinical trial is right for you.
Learn more about the BELIEVE Study at www.clinicaltrials.gov by searching for NCT02604433. You can also scan the quick response code at the right.
in partnership with Acceleron Pharma
©2015 Celgene Corporation All rights reserved. 08/16 Version 1
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The BELIEVE researchers are studying an investigational drug called luspatercept to see if it may reduce the number of transfusions you require
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TIF’s Publications Free distribution of our publications has been and still is a valuable service provided by TIF to the thalassaemia community: both health professionals and patients/parents around the world. For 2016, the situation is as follows:
POSITION PAPERS TIF actively engages in the process of developing and circulating position papers on key issues which concern patients with thalassaemia, seeking and making decision makers to take action. The position papers commonly focus on critical issues that either TIF itself has recognized or its member associations have reported to TIF. Each position paper is prepared following intensive research and communication with TIF’s advisory board and is based on evidence-based information and data/facts. Position papers are completed following a period of intense research and consultation with our members worldwide. Upon completion, the position papers are publicly available and are disseminated to key stakeholders and health authorities at the national, regional and international level with the view to implement the necessary actions. Furthermore, these are circulated amongst TIF’s Global Network of Health Professionals and, most importantly, they are distributed to thalassaemia associations across the world, encouraging patient advocates to develop a productive dialogue with their national health authorities, medical community, research institutes and industry, advocating and urging for action. TIF’s position on critical patient concerns: ▀▀ Position Paper 5.2: Addressing the Management of NonTransfusion-Dependent Thalassaemias (NTDTs) ▀▀ Position Paper 5.3: Counterfeit Medicines & Patients’ Safety – A global threat ▀▀ Position Paper 5.4: Patients Rights ▀▀ Position Paper 5.6: Chronic Hepatitis C in transfusion depended thalassaemia
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Members’ News West Pacific Region (WPR) Vietnam Individuals in Vietnam donated blood for thalassemia patients, on the 5th of June, to honour theBlood Donor Day. The Blood Transfusion Central Team, in collaboration with the technology company DKT, successfully organised a blood donation program for thalassemia patients and patients with other congenital anaemias. The program attracted the participation of staff nurses and doctors from the Blood Transfusion Institute of the central government, as well as leaders and workers of 12 business units operating in the city, with a large number of volunteers. By the end of this morning, the organizers received 200 units of blood; it was estimated that the amount of blood collected can be increased to 300 units. Australia Working with Australian Red Cross Blood Service hThalassaemia Australia Inc. working with the Australian Red Cross Blood Service helped achieve 120 blood donations. Thalassaemia, sickle cell, and other blood disorder patients depend on blood transfusions to survive. For this reason, the association organized a Blood donation campaign from now until the 19th of October 2016. We encourage people to donate blood at their nearest centre,. mentioning that they are donating towards this blood challenge. They are prompted to take a photo and post it on the associations’ page with the following hashtag: #Towards120donations.
Eastern Mediterranean Region (EMR) Pakistan Fatima Medical Laboratories, Islamabad (FML) is one of the leading diagnostic facilities in the private sector in Pakistan, with eight branches in different cities. This year, to celebrate the International Thalassaemia Day, FML launched a vigorous and enthusiastic campaign to show its support for the global thalassaemia family. In this regard, FML has: • provided free consultation and genetic counselling to patients and their families; • offered special discounts on thalassaemia screening and all the diagnostic tests needed by thalassaemia patients; and • distributed thalassaemia awareness material and publications and presented TIF’s activities, mission, and vision in all its branches in various cities. These activities had a very positive outcome, and the campaign was extended throughout the entire month of May 2016. Between the 11th and 12th of May 2016, the local council of the Continental Medical College, IFMSA Pakistan, arranged a two-day event on International Thalassemia Day to raise awareness amongst students. The event was conducted in collaboration with the Thalassemia Federation of Pakistan and Sundas Foundation, which mainly deals with thalassaemic patients.
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On the 12th of May, there was a conference attended by members of the Sundas Foundation and their founder, an anchor person from GEO News, and speakers from the Thalassemia Federation of Pakistan. A chairperson from the country’s Continental Medical College also attended this event. The conference was given media coverage. Overall, this event was very informative and enjoyable. Afganistan Many activities were held in Afghanistan that provided support for children with thalassemia on the occasion of the 8th of May 2016. Blood camps were held in coordination with the country’s blood banks and entertainment programmes for children with thalassaemia. The programme included games, basketball, comedy shows, and musical concerts. During the programme, the children were presented with gifts by donors. Palestine The Thalassemia Patients’ Friends SocietyPalestine (TPFS), honoured the International Thalassaemia Day through an event that highlighted the partnership between GOs, NGOs, health organizations, the local community, and patients, and informed the community about the dangers of thalassaemia and theways to prevent it. In addition to the implementation of dozens of awareness activities and community meetings, the activities of this day fell under the auspices of TIF. TPFS usually marks the Thalassemia International Day in a different province every year. The celebration this year was held in Jenin in synchronization with the Gaza Strip. This celebration came under the auspices of the governor of Jenin, Major General Ibrahim Ramadan, and in cooperation with the Palestinian National Security, Military Medical Services, under the slogan of Improving the Quality of Life for Thalassemia Patients, along with the participation of 500 patients and their families from all provinces, as well as many partner organizations. The International Thalassemia Day this year was distinguished by the participation of the largest number of young patients and through the organization of a special camp for thalassemia patients, entitled “Quality of Life of Patients with Thalassemia”, between the 5th and the 6th of
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May 2016. The aim of this camp was to integrate the patients’ society with the community. The camp included various activities, such as: 1. vision and dental examinations by the medical university and the military medical services; 2. lectures on contact and communication; 3. first aid and 4. training, order, and discipline. Click here to read the report: http://issuu.com/ internationalthalassaemiafederation/docs/ palestine_reportinternational_ day_ Furthermore, we are delighted to share with you some exciting news received from the Ministry of Heath of Palestine (see letter)! Many congratulations to the health authorities of the State of Palestine and the TPFS for the ongoing efforts in addressing challenges and needs of Palestinian patients. Egypt
Many activities were held in Egypt to create awareness about thalassaemia. Competitions were held that ended on the 19th of February 2015 to help in raising awareness on thalassaemia. The winners, who have already been announced, won a free journey to visit Mecca and Madina in Saudi Arabia and Monoara in Egypt. Additionally, the national association of Egypt also held competitions in schools for the best composition titled “A thalassaemia Patient’s Life.” The association also participated in a film about the life of thalassaemia patients, and organised and undertook a programme for the human development that aimed to promote the selfdevelopment of children with thalassaemia. Iran The Charity Foundation for Special Diseases (CFFSD) in Iran is planning the following activities and events in 2016: 1- Organizing an educational gathering for the International Thalassaemia Day, centred on the everyday life challenges faced by thalassaemia
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On the 11th of May, there was a blood donation drive organized by the Sundas Foundation and the Thalassemia Federation of Pakistan. Students from the first to the final year donated their blood during this event. There was also an inter-class poster competition to make this event more enjoyable for the students. There were over 100 submissions, which clearly showed the enthusiasm of the students for this cause.
28 patients. Medical experts and professionals from different fields, such as haematology, endocrinology, metabolism, cardiovascular, and reproductive science, as well as relevant authorities, physicians, and nurses, will be invited to attend this event. 2- Translation of TIF's publications into Persian, and undertaking their printing and distribution to interested local communities in Iran. 3- Supporting a research project that aims to evaluate thalassaemia patients’ treatment status and identify shortcomings. 4- Facilitating the process of implementing prenatal PND and PGD tests in order to prevent thalassaemia child births and providing financial support due to the high cost of treatments.
South East Asian Region (SEAR) Nepal A celebratory event took place on the 8th of May in Nepal, organized by the Nepal Thalassaemia Society. Many members of the Nepal Parliament, doctors, thalassaemic patients, their families, and the wider public attended this event. Government officials were also present. The aim of this event was to make the national health authorities recognize thalassaemia as a priority on the country’s health agenda and to lead to the creation of national programmes for the prevention and treatment of thalassaemia patients. At the same time, the Society has been lobbying to bring forth blood testing legislation that will ensure the provision of blood testing to couples before marriage. The Society is currently exerting efforts to place an academic course in secondary higher-level institutions to create awareness about thalassaemia among students. India Thalassemics India celebrated the day this year by hosting an awareness campaign and fundraising event under their Helping Hands Project. The press was invited to a meeting, with the aim to sensitize the general public and the concerned authorities about thalassemia. The media addressed some important issues: incidence of thalassemia, high costs of treatment, disability, insurance, and social issues. The event was covered by some of the more prominent print and electronic media. The government of Delhi also gave brochures in Hindi and English on the 8th of May, highlighting important facts about thalassemia and its prevention and also informing thalassemia families about the treatment facilities available in five of the government hospitals. The associations’ Helping Hands Project had already commenced enveloping underprivileged thalassemics under this programme, disbursing chelation drugs and filters at no cost. In order to continue with this programme, a fundraising event was held, inviting the eminent, talented composer of Indian classical music, Shubha Mudgal to present a concert. The evening began with the traditional lamp lighting, followed
by “Vandana” being sung by Shivangi Amrit. Thereafter, the artist took over in full-flow, singing for more than two hours, along with her team of instrumentalists, the audience acknowledging with appreciative hand-clapping. The event was attended by more than three hundred people. The programme ended with a note of thanks by the Secretary to Shubha Mudgal Ji and her team, as well as the donors. The Foundation Against Thalassaemia (FAT) arranged a tour to Rajasthan, India, for children. During the tour, lectures were given to inform the participants about the prevention and management of thalassaemia. In addition, the participants were taken for sight-seeing tours in the area to visit temples, famous lakes, and artwork. Many activities took place, such as sailing, singing, and dancing. 6th International Conference on Thalassemia in India We are pleased to announce the 6th International Conference on Thalassemia. We are confident that this conference will prove to be an enriching educational experience for all participants, including patients, parents and doctors. The conference aims to provide high-quality scientific content to the participants, which is a step forward to not only spread information, but also to address the needs of patients/parents for establishing a better health care system for thalassaemia patients in our country. The Organising and Scientific Committees have put together a scientific programme in which specialists in the field of thalassaemia have been invited to deliver their latest research and experiences. The participants will have an opportunity to share their experiences and address their problems to the medical experts. Apart from the scientific programme the conference will offer planned workshops for adult thalassaemics and thalassaemia NGOs to discuss their issues to the expert groups.
American Region (AMR) Trinidad and Tobago The Society for Inherited and Severe Blood Disorders Trinidad and Tobago (SISBDTT) organized a marathon aiming to motivate and unite patients and their families and many key stakeholders. On the 15th of May 2016, SISBDTT gathered parents, patients, and relevant stakeholders to complete a marathon in the area of the Caribbean Largest Savannah, in Trinidad and Tobago. For the 8th of May 2016, a campaign was launched, titled ‘Break the Chain: Get Tested for Thalassemia’. It is important to note that, for the past eight years, the organization, in collaboration with several key stakeholders, has been conducting new-born screening for hemoglobinopathies in the Twin
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We look forward to continuing to work together to ensure that the best possible healthcare is delivered to thalassaemia patients. USA North Salem Lions Golf Outing to Benefit CAF Cooley’s Anemia Foundation (CAF) is proud to announce the North Salem Lions 49th Anniversary & Golf Outing, which will take place on the 29th of August 2016. The North Salem Lions Club will be generously donating proceeds from the outing to CAF, as well as to Services for the Blind and Visually Impaired (VISIONS). The golf outing will feature a four-person best ball, a continental breakfast, a barbecue lunch, and a buffet dinner. Winners of the Longest Drive and Closest to the Pin contests will win two tickets to any national sporting event, and four shooters who make the 165-yard hole in one will win $50,000! And to top it all off, one lucky golfer who achieves a special par 3 hole in one will be the winner of a brand new car, thanks to Arroway Chevrolet and Cadillac!
European Region (EUR) UK We are delighted to share with you that Mr Panos Englezos, TIF President, has participated in a conference titled “Presenting the 3rd Edition of the Standards for the Clinical Care of Children and Adults with Thalassaemia” in the UK, which was organized by United Kingdom Thalassaemia Society (UKTS) and the UK Forum on Haemoglobin Disorders, between the 12th of May 2016 in London. This was a very productive conference, and TIF reiterates its commitment to support the UKTS and health professionals’ work and to safeguard the rights of all patients wherever they are, across cultures, religions, and social state for equal access to quality health and other care. Our warmest and most sincere congratulations to the UK forum on haemoglobin disorders, where the healthcare professionals and the UKTS constitute major pillars, for all the quality work done in the context of the development of the 1st Standards of Clinical Care of Thalassaemia a few years back and the revised 3rd edition that is so proudly presented today. Italy A press conference was organized to honour International Thalassaemia Day on Friday, the 6th of May, in Rome, Italy. The purpose of this press
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conference is to disseminate the results of a survey conducted in close collaboration with UNITED, SITE (Italian Scientific Society for Thalassemia and Hemoglobinopaties), and the ISTUD Foundation and Industry. This project aims to inform the public regarding thalassemia and sickle cell in Italy and to promote easy access to new therapies for HCV and new approaches to gene therapy. More information and photos will be uploaded! Greece On the occasion of the International Thalassaemia Day, the Hellenic Association for Thalassaemia and the association Source of Life organized an event on the 8th of May 2016 at a local beach in Thessaloniki to create awareness about thalassaemia. During this event, material was distributed to inform the public and raise awareness about voluntary blood donation. The 8th of May 2016 has succeeded in sensitizing the public on issues of concern to thalassemia patients, but also the importance of voluntary blood donation.
African Region (AFR) Mauritius We are delighted to share with you that, in the context of the 8th of May preparations, the anthem for thalassemia, “Precious Rubies,” has been translated in Mauritian, and the joyous and hopeful message conveyed by the anthem was spread to everyone in the country. We also have the pleasure to inform you that various activities will take place during the month of May in Mauritius in the context of World Thalassemia Day. The most important ones are the following: • Radio and TV programs aiming to create awareness about thalassemia • A blood donation camp held on the 8th of May 2016 • Sensitization and blood drives during the second week of May in collaboration with the Association’s partners and sponsors • Fundraising activities during the third week of May
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Island of Tobago. Over 8,000 babies have been tested; the organization is the first island from the English-speaking Caribbean to do so. Currently, TIF’s member organization is in talks with key stakeholders to initiate this vital project of newborn screening in Trinidad. Additionally, for the 8th of May celebrations, representatives of the association appeared on national morning shows to promote awareness of thalassemia and the International Thalassaemia Day 2016.
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Patient’s Story Patient Profile: Daniella Macolino, Actress Living Her Dreams
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By Cooley's Anemia Foundation aniella Macolino is a 24-year-old actress who pursues her dreams each day while living, and thriving, with thalassemia major. TIF shared her inspiring story as found on Cooley’s Anemia Foundation (CAF’s)’s website.
“When I was four months old, my family and I were on vacation in Vermont when my mom noticed I was turning yellow after my older brother took me out in the snow. She overlooked it, thinking I may have just been tired from all the traveling and playing outside. But the next day, I was looking worse, with bags under my eyes, so my parents rushed me to the hospital. The doctor ran some tests and broke the news to my parents that I have thalassemia major, also known as Cooley’s anaemia. Not only would I need a blood transfusion right away, I would also need to continue receiving transfusions every two weeks for the rest of my life in order to survive.
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Living with thalassemia has been difficult, especially as a teenager. I wanted to be like my friends—go out and have sleepovers—but couldn’t because I had to be home to take my Desferal injection. This nightly routine requires me to sleep with a needle pumping medication into my body to remove the deadly iron build-up caused by receiving frequent blood transfusions. I hated it, and it was very inconvenient for me. It was frustrating waking up with bruises on my legs and arms from the needle being in all night. Beyond that, it was hard trying to fit in while feeling so different because I had an illness and had to go to the hospital frequently. I only told a few of my closest friends that I had this disorder. Now that I am older and more confident, I am very open about sharing my experience with everyone. This illness isn’t going to define who I am, but it will make me stronger, and I know that’s why people are inspired by my story! The Cooley’s Anemia Foundation has been so amazing to me and my family. I can contact the Foundation any time I have questions or need anything, and they are there for me. The amount of gratitude I have for them, I can’t even put into words! I have been able to meet the most amazing people by attending Foundation conferences and other events. We are a true community, supporting each other’s passions, goals, and dreams.
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It is so important to get involved with and support the Foundation, especially if you or someone you know has thalassemia. I know I can speak on behalf of patients like me when I say that getting involved is worth it because we are raising public awareness of our disorder as well as funds for medical research. One day, there will be a cure, and I believe it will come sooner than expected! ‘Choose a job you love, and you will never have to work a day in your life.’ –Confucius I believe that, no matter what, everyone should follow their dreams, and no obstacle should stand in the way of accomplishing that! Those who know me know that I am pursuing an acting career, and I have been for a while now. I don’t know exactly what it is about being in front of the camera or on stage that makes me feel amazing, but I know that I could not live without acting. I’ve had to sacrifice so many things in order to keep doing what I love, but I’m no stranger to challenges! This is what I want to do, and I will never give up. All the hard work is paying off because each year, I find myself doing better and better in my acting career. From January to May of this year, I played a leading role in an independent feature film called The Prey— look out for it in October! And in August, I will be in a short horror film, which I am really excited about. Tonight, I appear in an episode of The Perfect Murder on the ID Channel. It is so crazy to even think that I have made it this far! Even though I put myself down every now and then, thinking that I should be doing more, I am still really proud of what I have accomplished so far. My advice to other thalassemia patients is to not look at yourself any differently than anyone else. Live your life day by day. Do what you love, and don’t listen to anyone who puts you down, because at the end of the day, you are a strong individual capable of doing what you want! Just always remember to be safe and take care of yourself. It is important to be compliant by doing your chelation EVERY DAY and staying on schedule with blood transfusions. If you’re tired or feeling ill, don’t put it to the side! Your health comes first no matter what. Thalassemia is rare, and I know many people have not heard about it, but it is just as dangerous as any other chronic illness. Every patient is different, and there is a wide range of complications. Please help us raise awareness, and if you have never gotten your blood tested, visit your doctor to see if you carry the trait.”
T I F M AGA Z I N E
My mother was born and raised in France, and she came to America not speaking any English. Neither of my parents had any knowledge that they carried the thalassemia trait and had never even heard of it before my diagnosis. Since then, my parents have become my biggest advocates and made sure I grew up with an amazing support system of friends and family. My siblings, Paul, Joseph, and Victoria, understand what I go through and don’t look at me any differently.
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distinctive innovative unique
TIF’S PROJECTS priority since its establishment, and this need has no geographical boundaries and transcends social, cultural, religious and political beliefs. TIF Renzo Galanello Fellowship TIF launched, in the context of its educational programme, a new initiative in 2013—a fellowship program, the TIF–Renzo Galanello Fellowship, in honour of the late Professor Renzo Galanello, a pioneer in the field of thalassaemia research and management. This is part of TIF’s Educational Programme and is offered to physicians and specialists in the fields of haematology, paediatrics, or internal medicine. From 2015, the training was offered through the University College London Hospital (UCLH) under the supervision of Professor John Porter, Professor of Haematology, and Dr Perla Eleftheriou, Consultant Haematologist, TIF is aware that in many countries there is a lack of trained medical staff, and as result, healthcare of haemoglobinopathy patients is less than optimum in many countries. This need is partially due to a general poorer interest in haematology circles for non-malignant haematological disorders, but also because these disorders are regarded as rare, and as such are not given priority or are not integrated into national strategies or programmes. Policies for rare and chronic disorders are suboptimal or inadequate in many countries, and health policy interest is diverted to other health priorities. Improving knowledge towards holistic care in thalassaemia and sickle cell disease has been a TIF
The Participating countries for the Renzo Galanello Fellowship during November 2015 were Pakistan, Nigeria, and the Maldives, and the scientific and medical specialists who participated in the programme were Dr Shruti Kakkar, Dr Muhammad Ahmed D. Saeed, Dr Mostafa Abdelmajeed, and Dr Ahmad Mohamed Abd El Latife. Duration: The fellowship is a 2–4-month support (depending on their personal needs) for one or two physicians per year. Venue: University College Hospital, 235 Euston Road, London, NW1 2BU, UK Next Training Period: October 2016 We are delighted to announce that the following countries have been selected for the upcoming training period for the Renzo Galanello fellowship: India, Iraq, Egypt, and Palestine. Selection of the candidates is the responsibility of TIF’s advisory panel (information regarding their experience and impressions has been placed in a report prepared by TIF) in collaboration with the UCL TEAM.
AUGUST 2016 www.thalassaemia.org.cy
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RRare anaemias are often misdiagnosed and delayed in diagnosis because of poor experience, especially at the primary care level. Services are developed in few centres of expertise, which are often not known to physicians, and patient referral is usually delayed, and so treatment is delayed, to the detriment of patients. Epidemiological information is imperative if referral and specialised services are to be planned, according to the European policy for the networking of centres. The e-ENERCA project aims to develop electronic tools that will support the development of services for rare congenital anaemias, including the haemoglobin disorders that are rare in the European context. The tools that were proposed were an educational platform for health professionals and another for patient information on their rights concerning registries and their ownership of the clinical information that concerns them, a platform for teleconsultation on rare anaemias, and an electronic patient registry in order to record patient numbers and locations and other epidemiological data. TIF, as a World Package leader, was assigned as its main task to complete the electronic registry. Until now, the following actions have been completed with regard to this project: 1. The creation of an electronic register for rare anaemias, to be used initially as a panEuropean registry but with dissemination to nonEuropean countries also. The registry, designed in accordance with EU standards and legislation, and following previously set patterns for rare diseases set by projects such as the EPIRARE project, is now in the piloting stage, in sites mainly of the ENERCA partners but also in two Asian sites. 2. TIF has also developed a booklet on the use of electronic registries and records and the rights of patients concerning ownership of their records and protection of their personal data. 3. Information on patient rights concerning registries and medical records has been included on a platform that includes training on thalassaemia. This platform is interactive, leading patients to knowledge of their condition and encouraging self-management. The registry is now ready to be piloted. Already several centres have access to the registry and will hopefully enter data so that its practical use can be tested and any improvements can be completed as soon as possible. The main objective is the collection of epidemiological information on the rare anaemias, which is basic to policy-making and service planning. There are two proposals for its use: 1. Each centre to download the registry and use it locally, with the only obligation to provide aggregate data to ENERCA/TIF so that
epidemiology can be worked out and reported on. 2. To use the web-based version and store information on a cloud server administered by TIF; in this case, TIF will be responsible for both analysis and security of the data (this may require a fee to ensure sustainability). The Results of the ENERCA Project Over the years, the ENERCA project has offered various tools to medical professionals as well as patients so that they can learn about the diagnosis and management of rare anaemias. These are included on the ENERCA website. Addressed mainly to policy-makers but also useful for service providers—medical and laboratory—is the White Book of Recommendations, published in 2014. From the ENERCA project there have been several publications in peer-reviewed journals. The TIF team has contributed mainly to studies on epidemiology and the effects of migrations. Outcomes of the e-ENERCA project are expected to be significant, as the working teams have developed three tools (the platforms described above), which, each in their own way, will help in the development of patient-centred services and give patients the opportunity to participate as partners in their own management and care. Future plans for this project include the dissemination of the tools to countries across the world and not just Europe. In addition, ENERCA has contributed to the inclusion of rare anaemias in the proposed European Network of Reference Centres. This means that these orphan diseases will find more expert services to which physicians can refer patients.
Preceptorships The objective of this project is to help raise standards and increase collaborations and networking. Preceptorships provide opportunities for professionals working in a particular field to spend a short period of time working closely with an expert in their field of interest, whether clinical or laboratory, in order to benefit from the practical experience of the expert. This venture of TIF is expected to become an integral part of its educational programme for health professionals dealing with haemoglobin disorders. The major impact will be the increase in expertise in laboratory diagnosis and research, as well as in clinical care, from any centre in the world, ultimately benefiting patients in terms of better diagnosis and management. TIF plans to make this programme a permanent service in its educational programme. A series of preceptorships is planned for 2017, with the main venues being academic centres in the UK and Italy. Priority will be given to laboratory scientists and clinicians working towards improving their skill in monitoring multi-transfused patients. Professionals already working in the field will be candidates and are expected to improve their skills in practical issues and in research. These will be in small groups, and each preceptorship will last a maximum of one week. According to the subject, a preceptorship can be organized for a small group with a common interest from various countries, or a small group from the same country.
AUGUST 2016 www.thalassaemia.org.cy
T I F M AGA Z I N E
e-ENERCA project: fullfiling TIF’s commitment for epidemiological surveillance of major rare anaemias in Europe!
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Discover TIF’s innovative smartphone applications!
tients g out to pa R eachinlt onals si es of pr h and hea e globe through across th y App! T IF’s digital librar
App (a mobile TIF’s digital library and Android devices) S iO r fo n applicatio nts and health reaches out to patie h a powerful platform professionals througblications and containing all TIF puTIF news and events. informing them of ers users a simple This application off blications from any pu way to access TIF at any time. It consists device, anywhere, elf and enables users to of a digital booksh download and read select a publication,stunningly-looking it, providing some that harness the touch interactive featuresphones. controls of mobile tch o allows users to ca The application alsws and events of TIF, up on the latest ne cations, alerts and a through push notifiF has now launched the digital calendar. TI Android markets! app on the IOS anddroid apps via the links Access iOS and An F below: ht tps://goo.gl/JtSXX Apple store for IOS:droid: ht tps://goo.gl/ Google Play for An I2hf4 x
T haliMe T IF ’s pion erin smar t ph,on g e applicateio n Th
eThaliMeappis aunique,exciting applicationthatpr ne om isestoimproveth wmobile livingwiththalas sa em ia,andwillsoonbeelivesofpeople downloadfrom availablefor informyouthatatheAppleStore.Wearedelighted w to eb devicehasalsoal developedandis readybeen re ad y to be launchedintheup months. coming ThaliMegivespe familiesandcare oplelivingwiththalassaemia,th eir givers: • aprivatemobile su pp or tnetworkanda oftoolstosimplify set overallhealth. dailymanagementandmonito r • medicationrem in de • rs appointmentsc • moodandmobheduling,from • bloodtransfusioilitylevelsmeasurements nandironchelat information iondatesand • datavisualisation toolsthatpresen trackinginavisua thealth motivatingway lformat,thusprovidinganeasy to and char • private,peer-to-ptpersonalhealth. ee randpe supportnetwork toimprovepatie er-to-caregiver support. nts’senseof Soonavailablefo aweb-device! rdownloadfromtheApplestor eandas
Give us your opinion! Let us know how we can make our applications better, more useful, more user-friendly! Your words matter for TIF! Your suggestions and opinions are taken on AUGUST 2016 www.thalassaemia.org.cy board!
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rt t develop ment in TIF programmean Programme.was the creation in 201’s world-renowned educa componen The name is self-expla 1 of the Expert Patient tional natory: the a and its matnis to establish patients im of this a a g em en t, in discussion transformin s experts on their disea g se s th a n em into equa d decisions re effect on thei l partners lating to thei r h ea lt h a nd quality of patients. r d ease and life, and this s eir rights ait s One of the m ajor advance will be the es s in the ta TIF wants ev blishment of an elecEtrxpert Patient programm er transform th y patient, wherever h onic educational platf e The focus emselves into an experte or she may live, to be orm. a patient and core activiton family eduacadvocate for their diseabsele to y fo r T . ti IF on since its esta has been a with const blishment in approaches.ant efforts to upgrade ou r work throu1986, gh new
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The platfor will utilise a content reprm critical mass of medical ed conventionaesenting various educa ucational learning) to l teaching, active learn tional approaches (e.g . ing, e-learnin address diffe rent audience g and blended s, la nguages and The overall cultures. im is to impr grand challaen ov e a n d en h g a e n is ce to em the ex rience navigate and of the lea er meaningfupollwer the learner with kpe resources ava . The y in teract with th nowledge and skrn ilable, as wel ills to e vast wealth l as to connec of ed t with other le The learner arners. ucational personalisedis therefore encouraged please visit: collaborative, learningto adopt active learnin g, in environment. academy.tha For more infoa self-directed, lassaemia.org rmation, .cy
AUGUST 2016 www.thalassaemia.org.cy
T I F M AGA Z I N E
T hal ours ar t o Patiene-tC fT s Proger, apm me IF’s Exper t An impo
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Medical and Scientific Update
Update of new developments in thalassaemia care Michael Angastiniotis, July 2016
6. Gene therapy (Bluebird bio and Sloan Kettering) Introduction
• In promising preclinical studies but not on formal clinical trials:
Patient care so far has been following a routine of several decades involving blood transfusion, iron chelation, monitoring for complications and managing complications. The only way to ‘cure’ is stem cell transplantationwhichcanbenefitaminorityofpatients.Atlastnowthere are visible indications that this routine may change in the coming few years. Research has brought us nearer to both cure and to other new approaches, already in clinical trials, which may drastically change both the prognosis and quality of life.
1. Stem cell generated red blood cells for transfusion
Ongoing trials and experiments that are discussed in this summary:
5. Hepcidin and mini-hepcidins – trial about to start
• Already in clinical trials
6. Genome editing (Sangamo Biosciences is a company developing at the preclinical stage – application for human trials submitted).
1. Blood Substitute (Sanguinate) 2. Pathogen inactivation (Cerus s-303) 3. Decitabine
2. Thalidomide/ Pomalidomide group being tried for other conditions but promising in individual thalassaemia patients 3. Plant products – individual reports but some merit further studies 4. Ubiquitine and Heat stress proteins – laboratory investigations so far
7. Other modulators of erythropoiesis: • Apo-Transferrin • SEMA antagonists
4. Sotatercept and Luspatercept (Acceleron and Celgene) which are activin ligand traps
• HIF2alpha inhibitors
5. JAK2 Inhibitors (Ruxolitinib)
• Agonists or inducers of hepcidin (TMPRSS6 inhibitors)
AUGUST 2016 www.thalassaemia.org.cy
37 • ERFE inhibitors Blood transfusion A new product called Sanguinate, has been developed in the USA by a company called Prolong Pharmaceuticals. The product is based on Pegylated carboxyhemiglobin which has three components:
HSCT:
This product has already completed phase 1 trials with no serious side effects. Phase 2 studies of efficacy in sickle cell disease are ongoing and betathalassaemiaisoneofthetargetdiseaseswithtrialsalreadystarted. FDA has already granted orphan designation for its use in Sickle cell disease. The objectives are to reduce transfusion interval and so iron overload.
Balanced chains can be provided through haemopoietic stem cell transplantation (HSCT) which can benefit a minority of patients because the need of having a fully matched donor. However in this field there are now approaches ready for clinical trials: the possibility of having a parent as a donor with only one HLA haplotype in common with the patient. This in trials has been shown to work but with a high incidence of GVHD (graft versus host disease). This dangerous complication can be reduced by selective removal of TcellsthatcauseGVHD,whileretainingkeyimmunecellswhichprotect against infection.A procedure known as ATIR101 (Allodepleted T-cell Immunotherapeutics) developed by a company called Kiadis pharma, has undergone phase 2 clinical trials and is known progressing to phase 3. This will benefit many thalassaemia patients who have no identical donor.
Useful references:
Other approaches:
• Misra H, Lickliter J, Abuchowski A. PEGylated carboxyhemiglobin bovine (Sanguinate): results of a phase I clinical trial. Artif Organs. 2014; 38(8): 702-7
In order to correct or minimize the globin chain imbalance in thalassaemia, there are several approaches:
a) Carbon monoxide, which reduces vasoconstriction, inhibits inflammation and is cardioprotective. b) Non-human haemoglobin (derived from cows) to transfer oxygen to tissues c) Polyethylene glycol (anti-freeze) to improve blood flow
• Abuchowski A. PEGylated carboxyhemiglobin bovine (Sanguinate): results of clinical safety testing and use in patients. Adv exp Med Biol. 2016; 876: 461-7 Blood safety Pathogen inactivation: trials in thalassaemia of S-303, a product which can inactivate a broad spectrum of pathogens in donor blood, are ongoing in several centres, including Torino and London and so many patients are already aware of the product which preserves red cell quality. S-303 is an alkylating agent which binds nucleic acids (DNA & RNA) are present in all nucleated cells in blood including contaminants such as viruses and bacteria, withoutdestroyingredcellswhichareenucleated. The potential increase in transfusion safety is well recognised and if no adverse effects are identified during the trials then this product will soon be marketed.
• To increase fetal haemoglobin (γ-globin): available treatments are the histone acetylase inhibitors, hydroxyurea, plant products and gene editing (not yet in clinical trials) • To reduce the excess alpha chains: possible by the use of protein control pathways •Compoundswhosepreciseactionisstilluncertainbutwhicharenow being clinically investigated: Factors regulating red cell maturation, and factors affecting mutual regulation of iron metabolism and erythropoiesis (hepcidin) • To increase the beta globin: this can be achieved by HSCT and gene therapy Increasing Fetal Haemoglobin Hydroxyurea, which has found an important role in sickle cell disease management,isdisappointingin thalassaemia.
Useful references:
Drugs, acting on the γ-globin gene include the Thalidomide group(includingpomalidomide) but these have not entered formalclinicaltrials,whiletheyhave been used to treat individual cases. In the laboratory combinations of these drugs may exert a synergistic effect and so be subject to clinical trials in the future.
• Sobral PM, de Lima Barros AE, Silva Gomes AMA, do Bonfim CV. Viral inactivation in hemotherapy: systematic review on inactivators with action on nucleic acid. Rev Bras Hematol Hemoter. 2012; 34(3):231- 5 • Winter KM, Johnson L, Kwok M, Vidovic D, et al. Red blood cell in vitro quality and function is maintained after s-303 pathogen inactivation treatment. Transfusion. 2014; 54(7): 1798-1807 • Wiltshire M, Meli A, Schott MA et al. Quality of red cells after combination of prion reduction and treatment with the intercept system for pathogen inactivation. Transfus Med. 2016; 26(3): 208-14 Balancing the globin chains The pathology of beta thalassaemia is based on the fact that beta globin chains are not produced or severely reduced and so alpha globin chains are left in excess with the result that they cause apoptosis
AUGUST 2016 www.thalassaemia.org.cy
Plant extracts have also been promoted especially by Asian investigators, mainly investigating traditional medicine. Such plantsinclude:grapeskinderivatives(resveratol),Radixastragali(China), Rheum palmatum (China), Wheat grass (India) and Fagonia Cretica (Pakistan). The results reported concerning the latter are remarkable and should be investigated further – the claim is of reduction in HbF and increase in HbA (from 0.33% to 87.5%) over about 9 months of treatment! Useful references:
T I F M AGA Z I N E
New sources of blood:
(cell destruction) in young red cells in the bone marrow. This results in ineffective erythropoiesis and haemopoietic tissue expansion. In the normal situation non-alpha chains (beta, gamma and delta) are intotal,equaltothealphaglobinchains.Ifthebalancecanberestored then the clinical consequences of thalassaemia will be ameliorated and more easily controlled but also a cure may result.
38 • Olivieri NF, Saunthararajah Y, Thayalasuthan V, Kwiatkowski J, et al. A pilot study of subcutaneous decitabine in β-thalassaemia intermedia. Blood. 2011; 118(10): 2708 • Fard AF, Hosseini SA, Shahlahani M, Salari F, Jaseb K. Evaluation of novel hemoglobin inducer drugs in the treatment of β-hemoglobiniopathy disorders. Int J Hematol Oncol Stem Cell Res. 2013;7(3):47-54
erythropoiesis will be reduced. One natural PQC system is the Ubiquitin proteasome system: Fig. Model of α-globin detoxification pathways in β-thalassaemia (borrowed from Khandros E et al. Blood 2012)
Reducing alpha chains (but not yet in clinical trials) Ineffective erythropoiesis can be minimized if the excess alpha chains are destroyed. There are in fact compensatory mechanisms at cellular level which control protein aggregation in various diseases, and thalassaemia, in which unwanted α– globins accumulate in cells, is such a condition. The clinical severity of β-thalassaemia is proportional to the degree of α–globin excess. However these compensatory mechanisms are overwhelmed and prove inadequate to deal with these protein aggregates. The compensatory mechanisms include proteins collectively known as protein quality control pathways (PQC). In the late stages of red cell maturation PQC mechanisms seem to be effective but as the maturation process proceeds the proteolytic capacity is inadequate. If these systems can be enhancedorifthecellsatthestageofdevelopment before the system is overwhelmed are selected then the unwanted globins and so ineffective
• Ghahremanlu E, Banihashem A, Saber H, Tavallaie S, et al. Increased serum shock protein 27 antibody titers and pro-oxidant-antioxidant balance in patients with beta-thalassaemia major. Acta Haematol. 2013; 129(1): 1-9 Factors regulating red cell maturation
• Seyal RA, Tareen SJ, Awan HM. Can we really treat thalassaemia major? Proceedings of the Pakistan Academy of Sciences. 2013: 50(4): 315-325 • Fozza C, Pardini S, Giannico DB, Targhetta C et al Dramatic erythroid response to low-dose thalaidimide in two patients with transfusion independent thalassemia and severe posttransfusionalalloimmunehemolysis.AmJhematol. 2015; 90(7): E141
al. HSP70 sequestration by free a-globin promotes ineffective erythropoiesis in β-thalassaemia. Nature. 2014; 514: 242-6
Janus Kinase Inhibitors Ubiquitin • A small regulatory protein produced by 4 genes • It can be attracted to a substrate protein (= ubiquitination) resulting in: degradation of unneeded protein (a-globin chains) and alteration of their cellular location Heat Stress Protein (HSP70) This is another protein that interacts directly with free a-globin chains that are produced during maturation, preventing their aggregation. Increased levels of antibodies to these proteins has been demonstrated in thalassaemia patients, suggesting that reduced levels may be involved in the pathology of thalassaemia. These PQC proteins have potential therapeutic benefits in thalassaemia but are still in laboratory investigations.
Janus Kinase (JAK2) is a gene that regulates the production and maturation of blood cells. Mutations in the gene cause proliferations of erythroid progenitor cells, so that they can cause myeloproliferative neoplasms or conditions such as polycythaemia vera (overproduction of red cells related to mutation JAK2V617F). With this property in mind it is proposed that inhibitors of JAK2 might reduce ineffective erythropoiesis and marrow hyperplasia which are seen in β-thalassaemia. This hypothesis has been confirmed in studies with mice, and preliminary findings suggest that the combined use of a JAK2 inhibitor and blood transfusion is superior to either treatment alone in ameliorating ineffective erythropoiesis. Several companies are now producing JAK inhibitors and one such product (ruxolitinib) is in phase III trials in myelofibrosis. Trials in thalassaemia is ongoing. Fig borrowed from Gardenghi S, Grady RW, Rivella S. Hematol Clin N Am. 2010
Useful references: • Khandros E, Thom CS, D’Souza J, Weiss MJ. Integrated protein quality-control pathways regulate free a-globin in murine β-thalassaemia. Blood 2012; 119(2): 5265-75 • ArletJB,RibeilJA,GuillemF,NegreO,HazoumeA,et
Jakavi), while for thalassaemia trials are ongoing. Useful references: • Rivella S. The role of ineffective erythropoiesis in non-transfusion dependent thalassaemia. Blood REV. 2012; 26(01): S12-S15 • Libani IV, Guy EC, Melchiori L, Schiro R, Ramos P, et al. Decreased differentiation of erythroid cells exacerbates ineffective erythropoiesis in β-thalassaemia. Blood. 2008; 112(3): 875-885 • Becker H, Engelhardt M, von Bubnoff N, Wasch R. Ruxoltinib. Rec Res Cancer Res. 2014; 201: 249-57 • Pecoraro A, Troia A, Vitrano A, Di Maggio R, Sacco M, Maggio A, Di Marzo R. Study on the efficacy of a JAK inhibitor pharmacological agent as inducer of fetal haemoglobin production in cultured erythroid precursors from sickle cell and beta thalassemia patients. Report at the December 2015 ASH meeting. Hepcidin: Hepcidin is well known as the main regulator of iron metabolism but
Phase3trialresultsbyNovartishavebeenreported for polycythaemia and myelofibrosis (ruxolitinib –
it also has a role in red cell production through the Erythropoietin/ JAK2 pathway. Hepcidin plays a role in regulating erythropoiesis and ineffective erythropoiesis has a role in hepcidin regulation, so the two are closely interconnected. Hepcidin in experiments involving mice, has been shown to reduce iron overload but also improve erythropoiesis. In particular small peptides that mimic hepcidin activity (mini-hepcidins) have been used in animal experiments and are being considered for human trials. Useful references: • Gardenghi S, Grady RW, Rivella S. Anemia, ineffective erythropoiesis and hepcidin: interacting factors in abnormal iron metabolism leading to iron overload in β-thalassaemia. Hematol Oncol Clin N Amer. 2010; 24(6):1089-1107 • Camaschella C. Iron and hepcidin: a story of recycling and balance. Hematology Am Soc Hematol Educ Program. 2013; 2013:1-8. • Ginzburg Y, Rivella S. β-thalassaemia: a model for elucidating thedynamicregulationofineffectiveerythropoiesisandironmetabolism.
AUGUST 2016 www.thalassaemia.org.cy
39 Blood. 2011; 118(16): 4321-4330 Activins are proteins which belong to a family of factors that regulate red cell development and maturation. This group of factors are collectively known as transforming growth factor-β (TGFβ) and include growth differentiation factors. Two substances from this family, Sotatercept (ACE 011) and Luspatercept (ACE-536), which are activin receptor type IIA fusion proteins that act as ligand traps for members in the TGF-β superfamily involved in the late stages of red blood cell production. They regulate late-stage erythrocyte (red blood cell) precursor cell differentiation and maturation. This mechanism of action is distinct from that of erythropoietin (EPO), which stimulates the proliferation of early-stage erythrocyte precursor cells. During late-stage erythroid differentiation there is minimal accumulation of free α-globin chains and so the damaging effects of these complexes are minimal (possibly due totheactionofPQCproteins).Inthemousemodelitwasdemonstrated that promoting differentiation of late stage red cell precursors had the following effects: • Reduction of α-globin chain aggregates • Reduction of haemolysis and improved red cell morphology • Reduction of oxidative stress in the red cells • Reduction in erythropoietin (EPO) levels indicating improved anaemia • Reduction in erythroid hyperplasia as demonstrated by marked reduction in splenomegaly • Correction of bone pathology • Improved iron balance SotaterceptisanactivinreceptortypeIIafusionprotein,whereasluspatercept is an activin receptor type IIb fusion protein. Celgene in partnership with Acceleron, is conducting clinical studies of sotatercept and luspatercept. The luspatercept Phase 2 trial is no longer accruing patients, but the trial is ongoing. There are currently 2 phase 3 trials of luspatercept accruing patients: one in adults with beta thalassaemia and theotherforpatientswithmyelodysplasticsyndromes
Gene therapy Following the first reported success of gene therapy some years ago in a patient with HbE/ beta thalassaemia (who is still transfusion-free andwithoutanyadverseconsequences),genetherapyhasmadean impressive entry in human trials. Three trials are now ongoing: 1. Bluebird bio, a company which has taken over the vector LentiGlobin BB05, originally developed by the Leboulch group. This company has progressed with 2 trials: Northstar Study – to evaluate the safety and efficacy of the vector in beta thalassaemia majorandHGB-205study-tostudyboththalassaemiaandsicklecell disease using the same vector. 2. Memorial Sloan-Kettering Cancer Center in New York, by the group of M. Sadelain. 3. The Milan group of Dr Giuliana Ferrari The results of the Bluebird bio trials so far have been announced at last December’s ASH meeting. Of the 13 patients treated for beta thalassaemia major patients, 9 have a β+ genotype and within 6 monthshavebecometransfusionindependent.4patientswhohave a homozygous β0 genotype achieved a reduction in transfusion requirement which will need further follow up to establish if time will increase the gene expression. The other trials have not yet released results. Gene editing • This is a new technology in which it is not necessary to add a new copy of the gene to the genome, but is based on correcting or editing the genome directly. It has the potential to eliminate the disease causing mutation in situ (or to delete specific genes identified as secondary modifiers of thalassaemia) • Targeted approach achieves a precise, sitespecific alteration in the genome • Transientdeliveryoftheeditingreagents is sufficient for a permanent effect • Expression remains under the controloftheendogenouspromoter
Results provided by Prof Antonio Piga In non-transfusion dependent thalassaemia dosesofaround1mg/kggivethebestresultswith a 2g/dl rise in Hb In transfusion dependent thalassaemia transfusion interval is reducedbyaround30%-50%inmostpatients. This reduction in transfusions also means reduction in the iron burden and this was demonstrated in 67% of patients who had a decrease of LIC from 5mg/g d wt to 2mg after 6 months of treatment. The treatment consists of a subcutaneous injection every 3 weeks Luspatercept is now in phase 3 trials (the Believe study) Reference: 1. Piga AG, Perrotta S, Melpignano A, Borgna-Pignatti C et al. Luspatercept decreases transfusion burden and liver iron concentration
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• Showing promise in clinical trials for HIV and trials are planned for thalassaemia in the near future (grant obtained and application completed) Useful references: • The gene therapy trials are unpublished but have been reported at the December 2015 ASH meeting • For gene editing: 1. Tebas P, Stein D, Tang WW, Frank I, Wang SQ et al. Gene editing of CCR5inautologousCD4TcellsofpersonsinfectedwithHIV.NEnglJ Med. 2014; 370(10): 901-910 2. Suzuki M, Yamamoto M, Engel JD. Fetal globin repressors as drug targets for molecular therapies to treat the β-globinopathies. Mol Cell Biol. 2014; 34(19): 3560-9 3. Cottle RN, Lee CM, Bao G. Treating hemoglobinopathies using gene-correction approaches: promises and challenges. Hum
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Activin receptor ligands:
in regularly transfused adults with beta-thalassaemia. 10th Cooley’s Anemia symposium Oct 2015.
40 INDUSTRY NEWS Novartis BioCamp gives students new perspectives on healthcare challenges. A former BioCamp participant asking questions during the panel discussion. On the 28th of August, 60 top students from leading universities around the world converged at Novartis headquarters in Basel, Switzerland, to develop solutions for creating a digital device that helps patients remember to take their medicine. They’ve been selected to participate in an International BioCamp, an annual three-day seminar that brought together talented students from 18 countries to learn from and exchange ideas with biotechnology and business experts. The program provided a crash course on the pharmaceuticals business and tests students’ ability to build a compelling business case, taking into account complexities such as data privacy and regulatory requirements. “It’s an exercise in creative problem-solving. It gives us a unique opportunity to see how a cross-functional team of experts can develop new ideas while inspiring those of us at Novartis,” said Norman Putzki, M.D., Global Program Head, Neuroscience at Novartis and creator of this year’s case study. In preparation for the case study, students have attended seminars on topics including the challenges faced by start-ups, the importance of protecting intellectual property, the commercialization of new ideas, and the burdens of running a business. They will then apply their learnings during a group competition to develop a hypothetical business. “The competition gave us the perspectives of people from different backgrounds, including finance, medicine, and science, which meant we had to think about things we never get exposed to at university,” said Marina De Niz Hidalgo, Ph.D., who attended BioCamp in 2013 and now works as a visiting scientist at Harvard University in the United States. “I saw how all the different parts of the business come together.” International Society of Blood Transfusion (ISBT) Founded in 1935, the International Society of Blood Transfusion (ISBT) has grown into an international community of transfusion medicine professionals from over 100 countries sharing knowledge to enhance transfusion practice worldwide. We achieve this by providing opportunities for advancing knowledge and education and advocacy for the welfare of blood donors and
transfusion recipients. Members of the society can join one of ISBT’s 15 Working Parties (Apheresis, Blood Supply Management, Cellular Therapies, Clinical Transfusion, Donors and Donation, Global Blood Safety, Granulocyte Immunobiology, Haemovigilance, Immunohaematology, Information Technology, Platelet Immunobiology, Quality Management, Rare Donors, Red Cell Immunogenetics and Blood Group Terminology, and Transfusion Transmitted Infectious Diseases) that focus on specific areas with members and actively work together to enhance practice in their specialised field of work. Recently, the Working Party on Immunohematology introduced a series of case studies creating learning tools to help members to analyse cases that they may not see often but should be able to identify. Twelve members of the working party share one study each, and these are published on the ISBT website. In 2015, the Clinical Transfusion Working Party started to assemble a patient blood management (PBM) resource that contains 20 chapters with contributions from a number of countries. It is available on the ISBT website. The aim of the resource is to optimise the care of patients who might need transfusion by promoting the appropriate use of blood and blood components and the timely use of alternatives where available. TIF holds one international congress in even years and two regional congresses in odd numbered years. ISBT offers several travel awards (Harold Gunson Fellowships) to help talented young investigators from all over the world to be able to join these meetings. Furthermore, the society publishes two scientific journals. Vox Sanguinis is an international haematology journal reporting on important novel developments in transfusion medicine, including all aspects of blood transfusion and tissue transplantation. The ISBT Science Series is an affiliated publication of Vox Sanguinis and focuses on topics that are of particular interest to unique demographics. One of the most important ambitions of ISBT is to promote science and education related to blood, cells, and transplantation. The ISBT Academy ePortal is an educational eLearning platform that includes webcasts of ISBT congress presentations, editor’s picks from Vox Sanguinis and the ISBT Science Series, learning quizzes, and a library of transfusion guidelines. Finally, the society supports numerous regional workshops, seminars, and congresses, either financially or by use of the ISBT logo.
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protect the patient against infections, lowering the risk of severe acute GVHD due to the specific elimination of the cells that would trigger GVHD. Therefore, the patient also would not need to take prophylactic immune suppressants and would be less vulnerable to opportunistic infection in the post-transplant phase.
Clinical development of novel adjunctive therapy to Stem Cell Transplant from family donor in beta thalassemia.
Although positive results are obtained in patients with a fully HLA-matched sibling donor, the use of matched unrelated or partially matched (haploidentical) donors has been complicated by GVHD, poor engraftment, excessive regimenrelated toxicity, and high infection rates. Thus, ATIR201 is expected to address the key risks and limitations of HSCT in inherited blood disorders, such as opportunistic infections and limited donor availability, making haploidentical transplantation safer.
Kiadis Pharma N.V., based in the Netherlands, is a clinical stage biopharmaceutical company developing innovative T-cell immunotherapy treatments for blood disorders. ATIR201, a novel cellular therapy expected to make haploidentical haematopoietic stem cell transplantation (HSCT) safer for more patients with beta thalassemia major, is about to enter clinical development in Germany and Great Britain by the end of 2016. This therapy is developed to meet the great need for new, alternative, and effective therapeutic strategies to render patients transfusion-independent. Developed by Kiadis Pharma, ATIR201 is a personalized T-cell immunotherapy based on family donor immunecell preparations selectively depleted of those immune T-cells that might attack the patient and elicit graft versus host disease (GVHD). Briefly, GVHD-causing T-cells from the donor are allowed to attack patient tissue in the petri dish. Thereafter, cells are treated with Kiadis’ compound, TH9402, which is selectively retained in activated T-cells. Subsequent light exposure eliminates these activated T-cells but preserves all other immune cells. In a first step of a transplantation procedure in which ATIR201 would be administered, the diseased bone marrow of the beta thalassemia patient would be replaced by a stem cell transplantation from a healthy heterozygous family donor in order to restore the proper production of haemoglobin. In the second step of the procedure, ATIR201 would be administered to the patient four weeks after transplantation, providing large numbers of functional, mature immune cells. These cells help
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Bio-Rad Library of Variants
Bio-Rad Laboratories, Inc. announced the release of the Bio-Rad Library of Variants, a compendium of HPLC analysis of cases with variant haemoglobins. This digital library contains case reports of variants of haemoglobin provided by a select group of reference centres belonging to the worldwide community of laboratories actively working on the detection of sickle cell, thalassaemia, and 50 other haemoglobinopathies, and aims to educate professionals with experience and knowledge of the global health care community. For more information, visit the Bio-Rad Library of Variants: http://www.ithanet.eu/ latest-information/ news/item/2942-bio-radlibrary-of-variants#. V8B9G5h97IU. Montco Biopharm Firm BEGINS HUMAN STUDIES OF IRON OVERLOAD THERAPY
Trial of Merganser's beta thalassemia drug candidate begins a clinical trial is underway to evaluate Merganser Biotech's M012, which is being developed as a treatment candidate for conditions such as beta thalassemia and some subtypes of myelodysplasia.
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The ISBT is managed by a board of directors that consists of the Executive Committee and nine regional directors. Members of the ISBT can nominate candidates for biennial elections and have the opportunity to be elected as board members. The ISBT Central Office is located in the centre of Amsterdam, the Netherlands.
42 INDUSTRY NEWS
Questions and Answers with Professor Nica Cappellini on the Phase 3 BELIEVE Clinical Trial in β-Thalassaemia
Q: What is the BELIEVE study? A: BELIEVE is an international Phase 3 clinical trial. It will help doctors learn whether an investigational drug called luspatercept can reduce the need for regular blood transfusions in adults with β-thalassaemia, effectively and safely. It has not been approved for use in any country. Phase 3 clinical trials are usually the last phase of clinical development before a drug may be reviewed for approval by a health authority. They are designed to confirm the safety and effectiveness observed from previous clinical trials by studying a large group of patients and comparing to commonly used treatments. BELIEVE will compare luspatercept with a placebo, the placebo being an inactive drug that looks the same as and is given in the same way as luspatercept. Importantly, everyone who takes part in the BELIEVE study will be closely monitored by the study staff. Participants, even those who receive placebo, will also continue to receive customary care for β-thalassaemia, such as transfusion and iron chelation as needed. About 300 people from around the world are planned to be enrolled in the BELIEVE study. Q: What is luspatercept and what does it do? A: Luspatercept is an investigational drug being evaluated to see if it reduces the number of blood transfusions needed for adults who have regularly transfused β-thalassaemia by improving the production of red blood cells. In animal studies of thalassaemic mice, luspatercept prevented the activity of a protein that inhibits the process of red blood cell formation, resulting in increases in hemoglobin. In Phase 2 clinical trials, luspatercept was shown to reduce transfusion burden in some patients with regularly transfused β-thalassaemia. In the
same clinical trial, luspatercept also reduced measures of iron overload in some patients with elevated liver iron concentration (LIC). Q: Who should consider participating in the BELIEVE study? A: Patients who are 18 years of age or older and have β-thalassaemia requiring regular blood transfusions may be eligible to take part in the BELIEVE study. Your doctor is the best source of information about your potential treatment options. If you have questions about taking part in this clinical trial, ask your doctor for more information. The BELIEVE study will have sites in many countries around the world. For a full list of the site locations, visit ClinicalTrials.gov and search for NCT02604433. Q: What does it mean to you to have a Phase 3 clinical trial in beta thalassaemia? A: I am very excited to take part in the Phase 3 BELIEVE study. BELIEVE may lead to a new treatment option for people who have β-thalassaemia, which could mean less frequent transfusions and possibly a reduction in iron chelation regimen. This would be a major benefit in terms of managing the disease and quality of life for people with β-thalassaemia. Q: Where can I find out more information? A: When considering participation in a clinical trial, it is best to speak with your physician. You may also learn more about the BELIEVE study by searching for NCT02604433 at www. clinicaltrials.gov .
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44 PATIENT AND OTHER ORGANIZATIONS
International Alliance Patients’ Organization (IAPO): 7th Global Patient Congress - The Report:
Increased training and engagement of parents and young patients (conditions of success and type of training needed)
The report from IAPO's biennial Congress is out! It outlines the main narrative of the event: who attended, who spoke, and the four main themes which emerged across the three day event.
How Extrapolation and design of Small Population Clinical Trials (SPCTs) can help
The themes provide insight into some of the biggest issues facing patients across the globe - we hope they prove useful as you plan for the future. You can read the full report here: https://www. iapo.org.uk/news/2016/aug/3/7th-globalpatient-congress-report European Organization for Rare Diseases (EURORDIS): 24th Workshop of the EURORDIS Round Table of Companies "Bringing solutions to young rare disease patients" Tuesday, 27th September, 2016 Attendance at this event is limited to corporate representatives from EURORDIS’ Round Table of Companies’ members, or by invitation only. Preliminary Programme: Registration is now open! Please note that registration will close on 16th September 2016. Attendance at this event is limited to corporate representatives from EURORDIS’ Round Table of Companies’ members, or by invitation only. Please address any questions to AnneMary Bodin at: anne-mary.bodin@ eurordis.org This interactive meeting will look back at experience gained specifically in the field of rare diseases since the launch of the paediatric regulation in 2006. The impact of the legislation and development of products for children affected by rare diseases will be presented. Participants will then discuss how this regulation could bring more solutions to young rare disease patients through potential improvements such as:
How to make PIP work for rare diseases? What can industry do to perform more studies on children? eENERCA Closing Meeting: 2nd September, block your agenda and join us in Barcelona! ENERCA Telemedicine platform is already available! The ENERCA Telemedicine platform facilitates remote diagnosis orientation of complex cases by building a bridge among health professionals in distant locations and experts in rare anaemias leading to a faster and more accurate diagnosis and consequently, to a better care of the patient.The platform is led by Hôpital Erasme Université Libre de Bruxelles and coordinated by Prof. Béatrice Gulbis, Dr. Françoise Neumann, Dr. Maria del Mar Mañú and Prof. Joan-Lluis Vives Corrons . EMA and FDA reinforce collaboration on patient engagement The European Medicines Agency (EMA) and the United States Food and Drug Administration (FDA) have set up a new ‘cluster’ on patient engagement. The cluster will provide a forum to share experiences and best practices on the way the two agencies involve patients in development, evaluation and post-authorisation activities related to medicines. This is especially important for rare diseases who show a high level of engagement in providing real life experiences, expertise as well as contributing to scientific discussion. The increased interaction through the new cluster will allow EMA and FDA to exchange information on how they engage with and involve patients in their work and on priorities and goals to scale up future engagement with patients. The FDA and EMA currently collaborate effectively for making joint applicants for providing orphan designations. More information: http://www.ithanet.eu/ latest-information/news/item/2943-ema-
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Orphanet activity report Orphanet, the reference portal for rare diseases and orphan drugs with partnerships in 40 countries, has published its annual activity report for the year 2015. It details the activities of Orphanet, while stressing the highlights of the past year, including updates of the Orphanet databases, tools and documents, improved transparency and traceability and upgraded international positioning. More information: http://www.ithanet. eu/latest-information/news/item/2940orphanet-activity-report#.V8B9Mph97IU European Health Public Alliance (EPHA): NCD Alliance: call for signatories Together with other civil society organisations, NCD Alliance has developed recommendations for health in the New Urban Agenda, which is to be adopted at Habitat III in Quito, Ecuador this October. NCD Alliance is now looking for signatories. EPHA supports this initiative. To find out how to join us in support of NCD Alliance, visit the dedicated website. ThalCare tool for the management of patients with thalassaemia ThalCare is a web tool to facilitate the critical care and chronic management for thalassaemia patients in order to improve the quality of life of people suffering from these blood disorders and assist medical and nursing teams, enabling the centers to collaborate with multidisciplinary experts on-line. The tool provides information and treatment assistance by tracking transfusions, chelation, vaccination and other key related issues. Moreover, ThalCare enables prevention of the disorder by cascade screening methodology and assesses the risk category for transplants that the child belongs to indicating suitability for bone marrow transplant. ThalSense is an intelligence engine for
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the generation of alerts, suggestions and indications that serves for the management of the patients. Since this tool gathers data, generates reports and indicators on the progress of each patient and of the centres as a whole, ThalSense also serves as guidelines for local doctors. On the other hand, ThalCare patient’s mobile app assures the empowerment of patients by enabling the access to medical records, scheduling medical visits, seeking help when emergency and having contact with other affected patients. http://www.ithanet.eu/latest-information/ news/item/2939-thalcare-tool-forthe-management-of-patients-withthalassaemia#.V8B9Q5h97IU Wide disparity of clinical genetics services and EU rare disease research funding across Europe An article published in the Journal of Community Genetics analysed the current status of genetic services and research funding throughout Europe as 80 % of rare diseases have a genetic origin. In this article, the authors aimed to determine, across the EU countries, the staffing levels of clinical genetic laboratories of EU countries as well as their preparedness to be a European Reference Centre, success in obtaining rare disease research funding and contribution of researchers in conferences. In 2011, the cross-border patients’ rights directive recommended the creation of European Research Networks (ERNs) to improve patient care throughout EU. The process of designating EU centres of expertise in rare diseases, which involves assessing the staffing of clinical genetic centres, is being implemented to allow centres to enter ERNs. According to the authors a wide disparity of staffing levels in clinical genetic services, rare disease research funding and communication of research work is observed across the EU countries that they analysed. The authors observed a need to ensure that the inequity gap that already exists does not widen with the development of ERNs.
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46 WORLD HEALTH ORGANIZATION NEWS
Non Communicabe Disease news Countries start to act on noncommunicable diseases but need to speed up efforts to meet global commitments A new WHO report highlights the need to intensify national action to meet the global targets governments have agreed to protect people from heart disease, cancers, diabetes, and lung diseases. Globally, these 4 noncommunicable diseases (NCDs) represent the largest cause of death in people aged under 70 years, posing a major threat to sustainable development. The global survey, “Assessing national capacity for the prevention and control of noncommunicable diseases”, shows that some countries are making remarkable progress. A number of countries have put in place measures to protect people from exposure to tobacco use, harmful use of alcohol, unhealthy diet and physical inactivity. Some have created new financing opportunities to build strong public health systems by taxing tobacco products. “Countries, including some of the poorest, are showing it is feasible to make progress and reduce premature deaths from NCDs. But that progress, particularly in low and middleincome countries, is insufficient and uneven,” says Dr Oleg Chestnov, Assistant DirectorGeneral at WHO. “If countries continue on this trajectory, there is no way they will all meet the 2030 Sustainable Development Goals (SDG) target of reducing, by one-third, premature mortality from NCDs.” here: n-mechanism/working-groups/ Fifth meeting of the UN Interagency Task Force on NCDs The Fifth meeting of the NCD Task Force was held between the 26th and the 27th October 2015 and was attended by representatives from 23 UN agencies, programmes and funds. The Task Force reviewed progress reports from countries that have received Task Force programming missions. Members of the Task Force agreed that there has been good progress in moving the NCD agenda forward in these fast track countries. The Task Force
also agreed that, moving forward, progress of the work of the UN Country Teams will be measured against the 10 WHO NCD Progress Monitor indicators which WHO published on 1 May 2015. The latest achievements of the ongoing WHO/ ITU Global Joint Programme on mHealth for NCDs was highlighted. Three other Global Joint Programmes, which are under development (two on cancer and one on multisectoral action for NCDs) were discussed so that they can be finalized during the next months. A new thematic group on the harmful use of alcohol has been established which WHO and UNDP are jointly chairing. Blood Safety: World Blood Doner’s Day 14 June 2016! Voluntary, unpaid blood donations must be increased rapidly in more than half the world’s countries in order to ensure a reliable supply of safe blood for patients whose lives depend on it, WHO said on World Blood Donor Day. This year, the theme of World Blood Donor Day is “Blood connects us all”, highlighting the common bond that all people share in their blood. The slogan, “Share life, give blood”, draws attention to the role that voluntary donation systems play in encouraging people to care for one another and promoting community cohesion. “Although we have many external differences, the same vital blood pumps through all our veins,” said Dr Margaret Chan, WHO DirectorGeneral. “Voluntary, unpaid blood donation is the act of giving life – the greatest gift any person can give or receive.” About 108 million blood donations are collected globally every year. Nearly 50% of these blood donations are collected in highincome countries, home to less than 20% of the world’s population. The average blood donation rate is more than 9 times greater in high-income countries than in low-income countries. However, in many countries, demand exceeds supply, and blood services face the challenge of making sufficient blood available, while also ensuring its quality and safety. An adequate supply can only be assured through regular donations by voluntary, unpaid blood donors. WHO encourages all countries to establish blood services based on full voluntary nonremunerated blood donations. Today, only 62
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Transfusions of blood and blood products helps save millions of lives every year, including during emergencies such as conflicts, natural disasters, and childbirth. It can help patients suffering from life-threatening conditions live longer and with higher quality of life, and supports complex medical and surgical procedures.
meeting of the Member State Mechanism on Substandard/Spurious/Falsely-labelled/ Falsified/Counterfeit (SSFFC) medical products. The long name reflects a compromise of past debates, and came under discussion again last week. The mechanism is working on several activities to fight SSFFC medical products, in particular track and trace systems, and a proposed study on the public health and the socioeconomic impact of SSFFC medical products.
The November meeting established a global network of focal points for the exchange of “Voluntary blood donors come from all walks information and consultation among member of life but they have one thing in common: they states, and established a virtual exchange put others before themselves — people they forum. don’t even know,” said Dr Ed Kelley, Director of the Department of Service Delivery and Safety For more, visit the following link: http://www.ipat WHO. “Each time they donate blood, they watch.org/2016/02/01/who-board-debatehigh-prices-sow-seeds-of-fake-medicines-incommit an act of selfless heroism.” developing-countries/ World Blood Donor Day has been celebrated annually since 2004, with the aim of improving the safety and adequacy of national blood supplies by promoting a substantial increase in the number of safe, voluntary, unpaid donors who give blood regularly.
Birth defects: Dialogue Meetings Pre-registration for the Global Dialogue Meeting 'on the role of non-State actors in supporting Member States in their national efforts to tackle noncommunicable diseases (NCDs) as part of the 2030 Agenda for Sustainable Development' is open. The meeting will be held between 19 and 21 October 2016 in Balaclava, Mauritius. More information on the Global Dialogue is available online.
This year, the host country for World Blood Donor Day is Netherlands, through Sanquin, the national blood supply organization. The global event will take place on 14 June 2016 in Amsterdam, attended by His Majesty King The Global Dialogue Meeting will be Willem-Alexander. proceeded by a WHO AFRO Regional Counterfeit Medicines: WHO Board Dialogue Meeting between 17 and 18 Debate: High Prices Sow Seeds Of Fake October 2016. It will also be held in Balaclava, Medicines In Developing Countries Mauritius. The same pre-registration page and due diligence process will be used for both Fake and poor quality medicines are still a meetings. By filling in the pre-registration form, growing public health concern particularly you are also applying for your organization to in developing countries, according to some become a GCM participant. Please find more World Health Organization members, who information on what it means to be a GCM said at last week’s WHO Board meeting that participant here. the problem comes from the unaffordability of medicines and the lack of a strong surveillance The deadline for pre-registration is 1 system. September 2016 unless you represent a Member State, the United Nations or one Global health policymakers mingle at WHO of its specialized organizations, a relevant Executive Board coffee break NGO in official relations with WHO, a relevant intergovernmental organization, or a WHO Global health policymakers mingle at WHO collaborating centre. Executive Board coffee break last week The WHO Executive Board (EB), which met from 25-30 January, noted a report [pdf] presenting the results of the November
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countries get close to 100% of their national blood supplies from voluntary unpaid blood donations, with 34 countries still dependent on family donors and even paid donors for more than 75% of their blood supply.
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2nd MEGMA Conference on Thalassaemia and Other Haemoglobinopathies 11-12 November 2016 Royal Hotel (Amman, Jordan)
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