Q1 / 2021
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Rare Diseases Read more at www.healthawareness.co.uk
This is James James has Coffin-Lowry syndrome a rare genetic disorder, characterised by intellectual disability and skeletal abnormalities. James’ family want people to be more aware of rare conditions.
As James grows older we want him to be accepted just the same as any other child would be. He has so much to give and the world is definitely a better place with him in it. Same But Different uses the arts for positive social change by working in partnership with organisations and families to highlight the rare experience. Their Care for Rare strategy includes the Rare Navigator advocacy service, working across rare conditions and supporting families. www.samebutdifferentcic.org.uk © I M AG E P R OV I D E D BY SA M E B U T D I FFE R E NT
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IN THIS ISSUE
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Collaboration is crucial now and after COVID-19
This community is exposed to greater social, health and economic vulnerability.
During the pandemic, people affected by genetic, rare and undiagnosed conditions have been living under immense pressure. Across Europe, specialist care has been disrupted for 9 out of 10 rare disease patients.
Flaminia Macchia Executive Director, Rare Diseases International
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We define priorities together because we, as people with rare diseases, depend on each other. Rebecca Skarberg, European Patient Advocate, EURORDIS
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Right now, we have two golden opportunities to improve access to new rare diseases medicines. Paul Catchpole, Director, ABPI (The Association of British Pharmacuetical Industry) Project Manager: Alice Golding alice.golding@ mediaplanet.com Business Development Manager: Josie Mason Managing Director: Alex Williams Head of Business Development: Ellie McGregor Head of Production: Kirsty Elliott Designer: Thomas Kent Digital Manager: Harvey O’Donnell Paid Media Strategist: Jonni Asfaha Production Assistant: Henry Phillips Mediaplanet contact information: P: +44 (0) 203 642 0737 E: uk.info@mediaplanet.com All images supplied by Gettyimages, unless otherwise specified
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B WRITTEN BY
Jayne Spink Chief Executive Officer, Genetic Alliance UK and EURORDIS Board Member
arriers to critical services such as health and social care, home care, education and respite have had profoundly negative impacts. Shielding and self-isolation have amplified the existing isolation and anxiety already felt by so many. This has been compounded by uncertainty over vaccination timing. With light at the end of the tunnel in the form of vaccines, it’s time to consider what opportunities there might be to redress the balance and to accelerate improvements in care and treatment for those with rare conditions. Learning lessons from the pandemic The pandemic underlines the importance of genomic medicine, demonstrating the power of genomics to tackle significant health challenges and support innovation. It is now critical to ensure that genomic medicine delivers improvements in early rare disease diagnosis and that a premium is placed on delivering the insights needed to drive and support research. During COVID-19, many rare disease patients had access to remote care or telemedicine for the first time. Judiciously used, telemedicine could help to relieve the burden of care coordination carried by patients and families. There are clear opportunities to reduce the expense, disruption and effort of travelling to appointments, while providing easier and timely access to medical advice that could significantly benefit clinical care and research. Collaboration helps address unmet needs Although tremendous progress has been made in the last decade, less than 5% of more than 6,000 rare diseases currently have an available
Collaborative and rapid innovation is the solution to meeting the poorly recognised crisis of unmet need for rare disease patients. medicine, and less than 1% have treatments that might be considered curative. The approach to rapid development and deployment of COVID-19 vaccines has clearly demonstrated the potential to sweep aside traditional silos and to accelerate development through greater acceptance of financial risk. Collaborative and rapid innovation is the solution to meeting the poorly recognised crisis of unmet need for rare disease patients. Using community insight for progress Generating insights into the rare disease patient experience is challenging - success comes from tapping into the insights of the community, patients and families, voluntary groups and charities and working in partnership. Underpinning pandemic research is the availability of good quality data on prevalence, symptoms and impacts of COVID-19 - the kind of data that is generally lacking for most rare diseases. The pandemic has shown that multistakeholder collaboration and incentivisation are the dual keys to success. The greatest pity for the rare diseases community would be to emerge from the pandemic to a restoration of the pre-pandemic status quo.
ALEXION PROUDLY SUPPORTS RARE DISEASE DAY 2021 alexion.com/worldwide/UK ALBIE, WITH HIS MOM LIVING WITH LAL-D
DATE OF PREPARATION: JANUARY 2021 JOB CODE: UK/ALL/0045
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Collaboration:
the key to finding rare disease treatments True medical breakthroughs happen when researchers see challenges through the eyes of those living with a particular condition and when industry, patient groups and academic institutions work hand-in-hand.
WRITTEN BY
Dr Bruce Bloom Chief Collaboration Officer, Healx Founder, Cures Within Reach
WRITTEN BY
Dr Tim Guilliams, Co-Founder and CEO, Healx
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n drug discovery, novel technologies such as artificial intelligence (AI) and machine learning (ML) offer new and exciting ways to dramatically speed up the process, but collaboration between patients and researchers remains as crucial as ever. But what makes us so certain of this? At Healx, we use a combination of AI, drug discovery expertise and patient insight to accelerate the development of repurposed treatments for rare diseases. This approach has been applied across multiple disease areas and with partners from around the globe, including Mission: Cure, the Foundation for Angelman Therapeutics and the Children’s Tumor Foundation. We have found the best results come from adopting a collaborative method. By working together, there has been a dramatic reduction in the time needed to take treatments from the drug-prediction stage towards clinical trials. The role of AI in rare treatment discovery Within the drug discovery field, AI and ML are powerful tools with the potential to make the process of finding and developing treatments much faster, safer and more cost-effective. This is particularly necessary in the rare disease space - where 95% of conditions lack any approved treatments. To make the most of these technological advances, we created Healnet, an AI-powered drug discovery platform. It integrates data from multiple sources (everything from disease and clinical trial data to scientific literature) to form the world’s most detailed knowledge graph of rare disease information. This graph is then analysed by state-of-the-art AI and natural language processing (NLP) models, to uncover previously unknown relationships between existing drugs and rare diseases. The benefit of looking at known drugs (i.e. those that have already been approved for use in another condition) is that we’re often able to move directly to Phase IIa clinical trials, since the safety profile of the drug has already been established. This, in turn, further accelerates and de-risks the treatment discovery process.
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AI-powered, patient-inspired treatments for rare diseases healx.io
Collaboration is key Whilst cutting-edge AI technology is integral to our work, we recognise that without the involvement of dedicated patient groups, academics and industry partners we couldn’t have achieved as much as we have. In particular, the support we’ve received from patients and their families has been invaluable - they are the real rare disease experts after all. Working together with groups such as Muscular Dystrophy UK, FRAXA Research Foundation and more to share data, expertise and patient insight is where real advances in the realm of rare disease research can be made. This type of collaborative work takes different forms depending on the project, partner and disease area. Whilst we often partner with patient groups from the outset of a project, we’re also able to work with partners who already have a drug repurposing asset but lack the financial resources or clinical expertise to take these to the clinic. In these cases, we’re also often able to use our technology either to validate or enhance their current repurposing assets. This type of partnership is a particular focus of
A new approach to developing treatments - one that is AI-powered but, even more importantly, one that is patient-inspired. the Rare Treatment Accelerator - our partnering programme designed to keep collaboration firmly at the heart of our work. Using technology to enhance existing work The Rare Treatment Accelerator connects academic groups, patient groups and early-stage biotechs with Healx to unlock the power of repurposed drugs for rare diseases. Working together, we can quickly turn research, insights and promising repurposing assets into novel treatments. Together with rare disease partners we’re taking a new approach to developing treatments - one that is AI-powered but, even more importantly, one that is patient-inspired.
For more information about the Rare Treatment Accelerator please visit: healx.io/rta
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Rare disease patient groups provide hope to isolated communities Rare disease patient groups act as a focal point for a rare condition. They create a community through shared experience to break the isolation of rarity.
Making rare diseases a human rights priority The global rare disease community urges UN Member States for a UN Resolution to recognise rare diseases as an international policy priority and promote measures to protect the human rights of all people, including those of PLWRD.
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fter 2020, we all understand how isolation takes a huge toll on your mental health. The isolation a rare diagnosis imposes comes from the sense that nobody shares your experiences. Patients are handed a disease name, a printout from Google, told there is nothing to be done and left to live with their condition. Breaking isolation, providing hope Rare disease patient groups act as a focal point for a rare condition. They create a community through shared experience – connecting affected individuals who can learn from one another and gain hope. Patient groups break the isolation of rarity, but they also do so much more.
O WRITTEN BY
Flaminia Macchia Executive Director, Rare Diseases International
ver 300 million people worldwide live with one of the 6,000-8,000 identified rare diseases. Rare diseases are often chronic, multi-systemic, disabling and life-threatening. People living with rare diseases (PLWRD) are confronted with a lack of public awareness, as well as limited expertise, knowledge, and resources available. Consequently, this community is exposed to greater social, health and economic vulnerability. Putting rare diseases on human rights agenda Addressing the needs of PLWRD and their families is a human rights issue. Throughout the course of a lifetime with a rare disease, individuals experience specific challenges in accessing healthcare, education, employment and leisure, impeding their full participation and inclusion in society. Other challenges are linked to childhood, gender, vulnerability and poverty-related issues. Therefore, the community calls for an inclusive approach that recognises the challenges of PLWRD as a priority within the international human rights agenda.
Unlocking the potential of the rare community As an organisation, we support rare disease patient groups. Most are small, voluntary organisations run by those affected, despite having no experience in healthcare or charity. In 2020, many worked to provide their community with COVID-19 guidelines specific to their condition. They found ways to deliver conferences online and organise virtual meetups so patients could feel connected. They supported their community with little time and less money. Small group, big achievements In 2020, one group from our Patient Group Mentoring programme stood out out. Over the course of a single year, The EOS Network: • Launched a new website receiving 3,500+ visitors a month. • Formed a network of 200 patients and carers. • Formed a network of 100 doctors from 19 countries. • Helped to assess three treatments, one of which has been approved by NICE. The EOS Network embodies the determination of rare disease patient groups when looking to form connections, facilitate research and advance their rare conditions’ awareness and treatment.
Ensuring no one is left behind In addition, full recognition of the over 300 million people living with a rare disease is an important advancement towards the UN Sustainable Development Goals. To deliver on the commitment
Full recognition of the over 300 million people living with a rare disease is an important advancement towards the UN Sustainable Development Goals. to “leave no-one behind” by reaching the most vulnerable in society, the UN is asked to be inclusive of the rare disease community. Rare Disease International (RDI) is engaged in the elaboration of a draft resolution which is co-authored with rare disease patient organisations active in over 100 countries. These include regional organisations for Europe, Asia-Pacific and IberoAmerica and national alliances from six continents. It brings attention to the shared challenges of all PLWRD, the need to develop national strategies, and to include this priority in the programmes and agencies of the UN system. In 2019, coordinated advocacy from the international community resulted in the inclusion of rare diseases in the landmark UN Political Declaration on Universal Health Coverage. RDI also leads a collaboration with the World Health Organization for the development of a global network to improve care for PLWRD, regardless of where they live.
To mark Rare Disease Day 2021, RDI and its partners will host a policy event on 4 March 2021. The event kicks off a global campaign in support of the first UNGA Resolution for PLWRD. We invite the public to join the call for a UN Resolution and contribute to this milestone for persons and families living with a rare disease.
WRITTEN BY
Dr Rick Thompson CEO, Findacure
©Image provided by Same but Different
Remember the little guys The 2021 charity world is brutal. Securing funds and attention in a COVIDdominated world is near-impossible. Rare disease patient groups will keep working with scraps of time and money. Their impact cannot be questioned, yet their importance often is. If you can support a charity this year, why not a rare disease patient group? They will help someone who feels isolated and hopeless in these strange times.
Heidi, living with Ehlers-Danlos Syndrome Type 3
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Think Addison’s disease – save a life Subtle symptoms like fatigue and light headedness are non-specific but they could be clues to diagnosing Addison’s disease, a life-threatening rare disease.
WRITTEN BY
Pippa Sharman Digital Communications and Engagement Officer, Addison’s Disease SelfHelp Group (ADSHG)
Paid for by Addison’s Disease Self-Help Group
Charity no.1179825 Find out more at addisonsdisease.org.uk @AddisonsUK
Understanding the symptoms Profound fatigue, increased skin pigmentation, muscle cramps, craving salt and unintentional weight loss, are all symptoms of Addison’s. These symptoms require medical attention to prevent a delayed diagnosis. Difficulty in diagnosis continues as individuals may not have all the symptoms outlined, everyone has a different mix. A delayed diagnosis may lead to a life-threatening adrenal crisis. Danger signs include low blood pressure, nausea, vomiting, extreme tiredness, drowsiness or confusion and stomach pain. Adrenal crisis People still die of adrenal crisis, which is entirely preventable. Healthcare professionals need to think of Addison’s and
recognise it earlier so that a diagnosis can be made before a crisis develops. People known to have Addison’s disease should carry the Steroid Emergency Card to prompt healthcare professionals to carry out life-saving treatment in an adrenal crisis. The Addison’s Disease Self-Help Group (ADSHG) charity website includes educational resources for healthcare professionals, linking to national guidance. Importance of diagnosis Diagnosis is highlighted in the UK Rare Disease Framework, showing that whilst each rare disease is unique, the commonality of experience is great. With over 7,000 rare diseases, it can be challenging for healthcare professionals to match the symptoms of Addison’s to the person before them. So see the rare reality, when a friend sits down in front of you, tired in a way no amount of sleep will fix think Addison’s. When a patient takes a seat at your GP surgery week after week looking unusually tanned – think Addison’s. Assess for the symptoms described and in the case of Addison’s or adrenal insufficiency, check with a morning cortisol blood test. Even with the fast-paced nature of daily life, overwhelming fatigue and the symptoms outlined here are not normal – diagnosing early can prevent a life-threatening adrenal crisis. Think Addison’s disease.
©Image Credit: CoMICs Team (Dwi Delson, Emma Ooi, Soon Chee Yap, Dr Punith Kempegowda) Twitter: @SimbaComics
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ndiagnosed, they go through most days almost giddy from light-headedness, sluggish, a dense fog rolling over their mind and muscle. Despite an all-yearround tan, they feel anything but healthy. Reaching for another salty snack, feeding the urge to keep going they think – when did “functioning” become so hard? Stop - think Addison’s disease. The initial symptoms of Addison’s are non-specific and can fit other conditions. Individually each symptom may be discounted or explained away, whilst the person remains undiagnosed.
Ensuring children with rare diseases get the new treatments they need While global communities have been devastated by the coronavirus pandemic in recent months, the urgent need to invest in research for childhood rare diseases hasn’t gone away.
R WRITTEN BY Dr Kiki Syrad Director of Grants and Impact, Great Ormond Street Hospital Children’s Charity
Paid for by GOSH Charity
ight now, too many children struggle to get a diagnosis for their rare disease. Many children are treated with medicines that cause side effects and one in three children with a rare disease will die before their fifth birthday. That statistic is devastating. The only way to change it is to invest in research. But in October 2020, the Institute for Public Policy Research projected there could be a shortfall of up to £7.8 billion in UK research and development spending between now and 2027, as a result of the pandemic.1 COVID-19 reinforces impact of research investment In recent months we’ve seen the lifechanging impact that medical research can have. Scientists and researchers have collaborated to create COVID-19 vaccines that offer hope of returning to a life that many of us had taken for granted. That tantalising glimpse of “ordinary” life resuming is what families of children with rare diseases cling to, with discoveries from paediatric researchers offering a lifeline.
Thanks to COVID-19, the public has never been in a better position to understand the impact that time and resources invested in medical research can have. My hope is that this understanding translates into support for charities investing in rare disease research for children year-round, because with sustained investment comes life-saving results. Making the untreatable, treatable For example, in 2015 GOSH Charity helped fund clinical trials to investigate a novel CAR T-cell therapy designed to target cancer cells more quickly and cause fewer side effects in children with previously incurable acute lymphoblastic leukaemia. In 2019, results published showed this pioneering research had helped make the untreatable, treatable. We want to see progress like this made in the fight against other paediatric rare diseases; this takes ongoing, sustained investment. Thanks to donations from the public and our partners, we will continue investing in rare disease research. Later this year we will announce which
With the right support, we can unlock new treatments and even cures for a generation of children with rare diseases. researchers we will support through our 2020/21 “national call” research fund and open the 2021/22 call for applications. We encourage ambitious paediatric rare disease researchers based anywhere in the UK to apply. The hope that research offers during pandemics like the one we are living through, and for families facing a rare disease diagnosis for their beloved children, is unmatched. With the right support, we can unlock new treatments and even cures for a generation of children with rare diseases. References 1. https://www.thelancet.com/journals/lancet/ article/PIIS0140-6736(20)32397-7/fulltext?utm_ campaign=comment20&utm_source=twitter&utm_ medium=social#bib12
Find out more at gosh.org/research
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Equal access to care and life chances are not a ‘nice to have’ The idea of equity has many dimensions for people living with rare conditions. We have long recognised the challenges facing ethnic minorities to access an equal to NHS care.
Amerah, living with Beckwith Wiedemann Syndrome
WRITTEN BY
Nick Meade Director of Policy, Genetic Alliance UK
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©Image provided by Same but Different
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2013 study saw that members conditions too. Those conditions of minority ethnic groups for which a medicine arrived in an were less likely to access early wave of innovation may be cancer genetic services for fortunate enough to have a choice of a wide range of potential reasons. medicine, whereas others wait years Reasons included: low community for medicines to be NHS funded. awareness and understanding of familial cancer risk, variations in Process must not bury detail beliefs, and stigma about cancer or We understand that we need registries inherited risk of cancer. to better study a condition and to Throughout the world of rare facilitate clinical trials, should they conditions, information is crucial and be possible. But there cannot possibly many of our members see information be a registry for every rare condition. delivery as a key We do, however, expectation. We hope that the English are supporters of National Congenital Breaking Down Anomaly and Rare Barriers (BDB) Disease Registration Our community expects Service, and parallel which came out of Alström Syndrome bodies in the other progress to be made UK’s work to engage UK nations, can with people of South over the terms of these build a framework Asian origin affected policies. But as this to help level this by the condition. playing field. progress is made, we BDB now works In the UK we are to help patient at the beginning of need to be careful to organisations to Genome UK and the observe, and react to, develop supportive UK Framework for and inclusive Diseases - the who is being left behind. Rare services for people two new overlapping affected by rare and national policies for genetic conditions. genomic medicine and rare conditions. Our community expects progress to be Narrow gateways to hope made over the terms of these policies The cutting edge is where the best care but, as this progress is made, we need and treatments for rare conditions to be careful to observe and react can lie. Access to clinical trials is, for to who is left behind. some, the only way to find a treatment. A four priority framework is bound Although participation in a clinical to leave some groups’ priorities undertrial is always free, the ability to drop addressed. A genomic approach will everything, move city, country or not work for all. Where we make continent, and take six months off work progress on treatments for single gene is a privilege which can be a barrier to disorders, we leave more complex accessing experimental treatments for genetic conditions un-addressed. some families. There is inequality between rare
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The gene therapy journey for rare diseases Rare diseases (RD) impact an estimated 300 million people worldwide with 30 million of those in Europe.1 New advances in gene therapy offer us a chance to treat rare diseases in a different way.
T Dr Anis H. Khimani Senior Strategy and Portfolio Leader, Life Sciences, PerkinElmer, Inc.
WRITTEN BY
Glen Molotnikov Strategy Leader, Biotherapeutics Discovery, Life Sciences, PerkinElmer, Inc.
Paid for by PerkinElmer
Rare disease identification The journey begins with elucidation of the genetic markers of the disease, which is accomplished via a concerted effort at an individual’s whole genome at single or multiple variant level. This is achieved through next generation sequencing (NGS) techniques which employs gene panels to detect changes at the genetic level. Alternately, genotyping array technology is utilised to identify a select set of variants, termed single nucleotide polymorphisms (SNPs), that are single or point mutations at genomic DNA level. They can potentially lead to a rare disease manifestation. A tremendous volume of genetic sequence data is analysed, annotated, and managed via an infrastructure of bioinformatics that eventually enables gene family clustering (e.g., hierarchical analysis), as well as patient stratification at population level. More recently, artificial intelligence (AI), with its deeplearning capabilities, has been applied to diagnosis, research, drug discovery and development to treat RD. AI offers the potential to integrate data from patient demographics, diagnostics, and other critical information to drive therapeutic development.3 Disease biology and therapeutic strategies Understanding the genetic basis of the disease can be more effectively driven via partnerships between academia, clinical researchers and industry. During the early discovery phase the primary goal for the researcher is to understand the biology of the specific disease and validate the molecular target(s). One of the trending therapeutic approaches, gene therapy, involves the delivery of the corrected gene into the patient. There are primarily four different methods of gene delivery: naked DNA or RNA that is injected directly; physical delivery done through pressure, injection or a process called electroporation by which the DNA or RNA enters the cells through electrical stimulation; chemical vehicles such as lipids or polymers that form a sphere which deliver the genes into a cell; and the most common and well-studied are viral vectors. Other factors that need evaluation are stability of the inserted or edited gene, as well as the immune response to the vectors.
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here are approximately 7,000 different rare diseases of which 4,100 are monogenic diseases.2 Monogenic diseases arise from a single gene mutation. Historically, treatment of these diseases has focused on treating the symptoms of the disease. However, with the recent advances in the field of gene therapy, opportunity now exists to correct the mutation causing the disease. Correcting the gene offers a potential therapeutic path to a little over half the known rare diseases.
Multiple applications of gene therapy The principle behind gene therapy involves: understand the gene you are targeting, synthesise a DNA or RNA to correct the mutation and create a vehicle that will deliver the transgene to the faulty cells or tissue. Once this is accomplished for one type of disease the gene can be replaced with a different gene to target a similar condition. With increased awareness of the genetics surrounding rare diseases, innovative technologies for precise identification and diagnostics, as well as gene therapy approaches to cure the disease, have fostered attention and a roadmap to address challenges. International multi-stakeholder collaboration Global as well as country level initiatives such as EURORDIS have led to programmes with significant funding, resulting in the establishment of centres of excellence and programmes needed to study the genetic and epidemiological basis of RD. In addition, an increasing number of patient enrolment for clinical trials from gene and cell-based therapies will drive a concerted effort between clinical researchers, medical care providers and recipients. Greater collaborative efforts between academia, technology innovators, therapeutic companies, regulatory agencies and non-profit organisations will lead to a unified front for RD. It will leverage opportunities and address challenges to unfold the next era of molecular medicine. References 1. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases https://www.ngocommitteerarediseases.org/wp-content/uploads/2019/02/PressRelease_ RDDPolicyEventUN_Final.pdf 2. Ehrhart, Friederike, et al. “History of Rare Diseases and Their Genetic Causes - a Data Driven Approach.” BioRxiv, Jan. 2019, www.biorxiv.org/content/10.1101/595819v1. 3. Brasil, Sandra et al. “Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?.” Genes vol. 10,12 978. 27 Nov. 2019, doi:10.3390/genes10120978
PerkinElmer creates the instruments, tests and software used by scientists, researchers and clinicians to address the most critical challenges across science and healthcare. Through its comprehensive portfolio, the company serves four market segments to help customers: Diagnostics, Life Sciences, Food, and Applied Markets.
Find out more about how advances in gene therapy allow us to look at rare diseases in a different way. www.perkinelmer.com/RareDiseases
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Matthew, living with Crouzon Syndrome
A better future for rare diseases The Rare 2030 Foresight Study has set the direction for a future based on needs-led innovation and collective responsibility.
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write as one of many, but in society I am one of few. I am rare. I live with Osteogenesis Imperfecta, a rare disease that means my collagen has the wrong recipe. This makes my bones break, my breathing compromised and my stature short. What does that mean? How does it impact my life? More importantly: if I could wake up in a perfect world tomorrow, what would it look like? Over the past two years I have helped define this perfect world through the Rare 2030 Foresight Study. Together we have tried to paint a picture of what it’s like to live with or care for someone with a rare condition, or work within the field. Together we also identified trends responsible for the progress we see today, and those that will enhance or disrupt our lives over the next decade.
The future of rare diseases starts today
Our quality of life is defined by more than just genetic misspellings and symptoms. It’s also about community, independence, empowerment and fulfilling your potential. Innovation and solidarity Two clusters emerged: innovation and solidarity. In the future, innovation can be needs-driven or market-driven. Solidarity can be left to the individual or a joint effort. The dynamic between innovation and solidarity is where the Rare 2030 Foresight Study proposed four scenarios for our future. Some of these scenarios have already played out - for better or worse - in my life, and the lives of those I love. As we turn to technology, we can connect more as a community, but are we left more vulnerable to being overexposed? As we see with breakthrough treatments which are developed at an extraordinary price and in the hands of the few? The world I want to live in Innovation that is needs-led, but also a joint responsibility, will lead to a future that leaves no one living with a rare disease behind. We define priorities together because we, as people with rare diseases, depend on each other. Our quality of life is defined by more than just genetic misspellings and symptoms. It’s also about community, independence, empowerment and fulfilling your potential. Beware that no matter what our future holds, there will be trade-offs. Join me in working towards tomorrow’s world.
New policy recommendations from the rare disease community aim to improve the future of those living with a rare disease in Europe.
T WRITTEN BY
Dr. Ana Rath Director, Us14 Inserm, Orphanet
WRITTEN BY
Yann Le Cam Chief Executive Officer, EURORDIS
WRITTEN BY
Rebecca Skarberg European Patient Advocate, EURORDIS Read more at healthawareness.co.uk
he health and future of 30 million people living with a rare disease in Europe should not be left to luck or chance. Today, 20 years after the first European rare disease legislation, many patients in Europe still have unmet needs; the road to a diagnosis is long, treatment options are lacking and limited support provided. Success by design A renewed policy framework is needed to ensure that the rare disease community’s vision for the future is made a reality and to ensure the best outcome whatever happens. This is the conclusion of two years of work and hundreds of rare disease experts through the Rare 2030 Foresight study, Rare 20301, funded by the European Parliament. A renewed policy framework The Rare 2030 Foresight Study for rare disease policy has brought together over 200 stakeholders to define the rare disease community’s vision of the future and the actions needed to achieve this. This desired future prioritises innovation responding to unmet needs, with a strong sense of collective accountability demonstrated by solidarity between citizens and countries, with diseases constituting a policy priority. Making new policy recommendations The project’s final recommendations for a new policy framework were presented at a final online conference on 23 February 2021 to over 800 participants, including Members of the European Parliament and representatives from the European Commission. These recommendations consider the full rare disease ecosystem, from public health to research and innovation, social affairs and technology.
It is hoped that these recommendations will help pave the way to a brighter future where no person living with a rare disease is left behind. Helping to inspire global change Although intended to help shape a new European policy framework for rare diseases, these recommendations can also provide inspiration for countries outside the EU and other sectors. It is hoped that these recommendations will help pave the way to a brighter future where no person living with a rare disease is left behind. Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe and Rare 2030 project coordinator underlined that, “Rare diseases know no borders; all countries in Europe - including the UK - should see the Rare 2030 Recommendations as the direction we need to go, together, to continue to move to a better future.” Ana Rath, Director of Orphanet and Rare 2030 project partner, highlighted that, “Now more than ever, European and national institutions have a vital role to play in improving the health of citizens across Europe. These recommendations provide a roadmap for further work over the next decade to improve the journey of living with a rare disease for patients and families.” 1. www.rare2030.eu
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Innovation is thriving, but we must do more to support carers Every year, thousands selflessly put their lives on hold to support a loved one living with a rare disease. Help for these carers, however small, can be life changing.
C WRITTEN BY
Brendan Martin General Manager, UK & Ireland, Alnylam Pharmaceuticals
Paid for by Alnylam Pharmaceuticals
aring for a rare disease goes far beyond treatment. For all those working in life sciences, it is our responsibility to listen, respond to and help as many people as possible affected by these conditions. In recent years, the pharmaceutical industry has been collaborating with patient organisations and their families to understand the wider impact of a rare genetic disease. While there have been groundbreaking leaps in medicine over the past decade, the complex nature of many rare diseases continues to pose significant challenges. Co-ordination of care in particular can be one of the most challenging aspects of a disease – a point reinforced in the Government’s recently published UK Rare Diseases Framework. Difficult treatment schedules and the need for multiple hospital appointments at different centres can place significant demands on caregivers, who may find their own lives severely limited as a result. Listening to caregivers for people
diagnosed with the rare condition hereditary ATTR amyloidosis confirms this; the caregiver provides physical and emotional care to the patient while experiencing a considerable emotional strain of their own.
While there have been ground-breaking leaps in medicine over the past decade, the complex nature of many rare diseases continues to pose significant challenges. Establishing more practical models of care Safe administration of medicines and delivery of high standards of care must always be a priority. However, inpatient care is not always essential and supporting patients at home is something that must now be increasingly explored. The realities thrust upon us by COVID-19 have acted as a catalyst for
this. Responding to unprecedented demands on the NHS and the fact that many patients were shielding, many companies have moved quickly to make safe delivery of care at home a reality – in some cases establishing this in just a few weeks. This change has shown what can be done and what care could look like as we move into the future. Going one step further Rare Disease Day is a perfect opportunity to reflect on the fact that, while there are thousands of people diagnosed with a rare disease each year, the number impacted is far greater. We all have a role to play in supporting those affected by a rare condition. While there is still much to be done, I am hopeful that the efforts being made by the pharmaceutical industry and the prioritisation of better coordination of care within the UK Rare Diseases Framework will mean the future for both patients and carers will be a brighter one.
Find out more at alnylam.co.uk
NP-UK-00002 Date of prep: February 2021
The GP that diagnosed her own rare tumour against the odds Cushing’s disease is caused by a tumour that grows on the pituitary gland and leads to the production of excess cortisol, the stress hormone.
A INTERVIEW WITH Dr Kate Scoffings GP, Cambridge
Paid for by HRA Pharma Rare Diseases
This article has been commissioned and fully funded by HRA Rare Diseases. HRA RD have reviewed the content for medical accuracy only. The narrative and views expressed are the author’s own. Any links visited from this site are not the responsibility of HRA Pharma Rare Diseases
s a GP, Dr Kate Scoffings remembers being taught the signs of Cushing’s in medical school, a rare disease that she might see only once or twice in her career. But looking in the mirror one day, she saw herself with the same description. She says, “We had always been told that the classic Cushing’s symptoms were a round, puffy face and chest with slim arms and legs. In other words, a lemon on toothpicks.” Noticing physical changes As a busy mother of two with a demanding job, Kate had struggled for years with fatigue and rising blood pressure. But in 2017 when she embarked on an intensive diet and fitness regime and the weight still wouldn’t shift, she realised something was wrong. There in the mirror were well defined arms and legs that showed the toning of someone who regularly exercises, which made her puffy face, chest and back look out of place.
Facing the unlikely possibility Until numerous tests came back to confirm, Kate’s medical team downplayed the likelihood of her having the disease, which is a one in 200,000 chance, as did her own husband who was in the medical profession. But Kate’s hunch was right and looking back, she had all the classic signs. Her periods had stopped around 40, yet she had not entered early menopause, there were problems with clots in her lungs, high blood pressure and achy joints. Putting these concerns down to having a busy lifestyle, they were actually created by an excess of cortisol (the stress hormone) created by a tumour in her pituitary gland which stopped the body from regulating production. Once identified, Kate underwent an operation to remove the tumour which alleviated most of her symptoms. However, as Cushing’s causes muscle weakness near the core, there is still residual fatigue that Kate still suffers with three years later. She takes replacement steroid tablets and has to carry an emergency injection.
We had always been told that the classic Cushing’s symptoms were a round, puffy face and chest with slim arms and legs. In other words, a lemon on toothpicks. Looking out for signs of Cushing’s Kate would certainly recommend that other GPs watch for the signs. Diagnosing Cushing’s disease is vital as if it goes untreated, can carry a high mortality rate due to the impact on the cardiovascular system as well as associated co-morbidities. The signs and symptoms of Cushing’s are often looked at individually and can be masked by other common symptoms. When they are looked at together by a GP who connects the dots, they should think about Cushing’s despite it being rare. Written by: Gina Clarke
For more advice and support, please speak to your GP, or visit pituitary.org.uk
UK/ENDO/0072 Date of prep: February 2021
A promotional supplement distributed on behalf of Mediaplanet, which takes sole responsibility for its contents | MEDIAPLANET
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Fixing the arduous path to approval for rare disease medicines
Addressing uncertainty in rare disease therapies Seeking to approve rare disease treatments as quickly as possible means making decisions based on limited data, with innovative methods used to reduce uncertainty.
There are many new treatments for rare diseases in the pipeline, which could transform people’s lives and potentially, provide cures. Now health systems across the UK need to get better and quicker at making these available to patients.
T
here are ~7,000 rare diseases but fewer than 5% have an effective treatment. This means the vast majority of patients and families find themselves without a treatment option. Therefore, when potential treatments are found, they need to be evaluated quickly to determine if they are safe, effective and worth the amount of money they will cost.
I
Making decisions about new treatments Regulatory authorities, like the Medicines and Healthcare products Regulatory Agency (MHRA) and the U.S. Food and Drug Administration (FDA) endeavour to evaluate the safety and efficacy of these products as early as they can. Countries also decide whether or not to pay for treatments based on the costs and the benefits. There are processes in place such as the MHRA’s new Innovative Licensing and Access Pathway (ILAP) for ground-breaking products that have the potential to offer benefit to patients with life-threatening or seriously debilitating conditions. This programme aims to reduce the time to patient access by encouraging input from all relevant authorities early in the development process. By evaluating rare disease treatments quickly, decision-makers often have to make judgements based on limited data, for example, from small patient populations and short trials without a placebo control. Such data is associated with a lot of uncertainty, whereby results could be unclear or inconclusive.
WRITTEN BY
Paul Catchpole Director, ABPI (The Association of British Pharmaceutical Industry)
Getting new treatments to patients quicker In England, right now, we have two golden opportunities to improve access to new rare diseases medicines: the ongoing NICE methods review and the new Innovative Medicines Fund (IMF). NICE has the incredibly important job of deciding whether new medicines should be made available to patients in England, but the ‘methods’ by which it does this need updating. It is important that the review enables NICE to introduce more flexibilities into its approach for assessing rare disease medicines. The Innovative Medicines Fund is aimed at ensuring doctors can use the most advanced treatments, including for rare diseases that affect children. We need the Fund to deliver on that promise.
How to tackle uncertainty Developers of treatments aim to think creatively about how best to reduce the risk of uncertainty at the time of decisions being made. The most robust, patient-relevant data possible should be collected, with the novel HERCULES collaboration in Duchenne muscular dystrophy paving the way for how to achieve this. In the absence of data, experts – patients, caregivers or doctors – often advise on what are reasonable assumptions. This feedback can be collected and analysed in different ways to account for potential bias. Through innovative strategies and working collaboratively with authorities, developers strive to bring the right treatments to patients as early as possible.
WRITTEN BY
©GAN CHAONAN
Dr Annabel Griffiths Head of Rare Diseases, Costello Medical
Paid for by Costello Medical
n January, the four UK Governments published the Rare Disease Framework with four important priorities: help patients get a final diagnosis faster; increase awareness among healthcare professionals; better coordinate care; and crucially, improve access to specialist care, treatments and medicines. The pandemic has shown us how quickly industry, academia, health services and regulators can move to research, develop and approve new medicines and vaccines. We need to build on that energy if we are to truly realise the goals set out in the Framework.
The pandemic has shown us how quickly industry, academia, health services and regulators can move to research, develop and approve new medicines and vaccines. Commitment from industry to support The creation of the IMF, together with the NICE Methods Review, could not come at a more important time. Furthermore, as new medicines are developed, the industry has committed to ensure their introduction is affordable to the NHS. Through the ‘Voluntary Scheme for Branded Medicines Pricing and Access,’ NHS spend on branded medicines is capped, with the industry reimbursing all expenditure above agreed growth levels. Since 2019 companies have paid back over £1billion, giving financial certainty to the NHS. The pharmaceutical industry stands ready to play our part in securing the changes required to ensure those with rare diseases and their families across the UK can benefit from quicker diagnosis, better care and better treatments in years to come. The Rare Disease Framework sets that challenge - together we must deliver it. We owe people with rare diseases nothing less. Read more at healthawareness.co.uk
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Why we must improve rare disease patient care
WRITTEN BY
Sean Richardson General Manager, Alexion Pharmaceuticals UK & Ireland
Paid for by Alexion Pharmaceuticals UK & Ireland
Date of Preparation: January 2021 Job code: UK/ALL/0044
Major gaps in care for patients However, findings from a 2020 survey of the rare disease patient and caregiver community – run by Genetic Alliance UK and supported by Alexion – show that there is still a major gap in the care of rare disease patients across the entire patient pathway. Half of patients believe there has been no change in their quality of care, with over a third rating their overall experience of care as poor or very poor, and half believe their care is not effectively coordinated.1 The COVID-19 pandemic has worsened the longstanding issues
which are facing patients living with a rare disease in the UK, such as receiving a definitive diagnosis, access to specialist care and treatment, and coordination of services. These findings and others from the survey were published in the Reforming Rare Diseases report.1 Identifying key areas to improve patient care Overall, the survey findings highlight the importance of listening and learning from patients and their experiences. Improvements moving forward must focus on four key areas: quality of care, diagnosis, care coordination, and access to treatment and care, which will help to make a real difference in peoples’ lives and alleviate some of the current burdens being faced. With the recent DHSC publication of the updated Rare Disease Framework in 20212, now is the time to listen to the rare disease community, urgently address the current challenges in patient care, and take action to ensure positive change. As a company, we are committed to transforming the lives of people affected by rare and devastating conditions. Our key focus is to ensure the patient voice remains central to the implementation of this policy and build on the close collaboration we already see across the rare disease community. Together, we can work to improve the lives of people with a rare disease and their families.
©Image provided by Alexion
P
eople with a rare disease often go on a diagnostic odyssey – a long and challenging journey involving repeated referrals alongside multiple unnecessary tests and misdiagnoses. A new survey highlights key areas that need to be improved for patients. Rare diseases collectively affect around 3.5 million people in the UK and the impact they have on patients, families and society is profound. Of the estimated 6,000 rare diseases, many are severe, chronic and progressive.1 The UK Department of Health and Social Care (DHSC) published the UK’s first Strategy for Rare Diseases in 2013 to help improve the lives of those impacted by a rare disease.1 The aim is to ensure no one gets left behind just because they have a rare disease.
Read more at alexion.com
References 1.Reforming Rare Diseases. 2020. Alexion and Genetic Alliance. [online] Available at: https://rareexperience2020. geneticalliance.org.uk/wp-content/uploads/2020/12/Reforming-Rare-Diseases.pdf 2.The UK Rare Disease Framework. January 2021/ [online] Available at: https://www.gov.uk/government/ publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework
Rare disease clinical trials continue, thanks to new technology Despite the ongoing COVID-19 pandemic, clinical trials continue, including those that feature patients with rare diseases which can often be the hardest to establish.
W INTERVIEW WITH
Dr. Carlos Camozzi Chair of the Rare and Orphan Advisory Board, Simbec-Orion
Written by: Gina Clarke
hen it comes to clinical trials, an incredible amount of work has to be done behind the scenes before any patient analysis can take place. It is particularly challenging however, when conducting trials for rare disease treatments. Dr Carlos Camozzi, Chair of the Rare and Orphan Advisory Board, Simbec-Orion, explains. “Clinical trials are certainly a challenge when it comes to rare diseases, because of the small number of patients, the rapid, progressive deterioration puts patients’ lives at risk and demands a sustainable commitment from all stakeholders.” Setting up clinical trials There are several steps that need to be taken before the start of a clinical trial in rare diseases. The first is to create reliable and validated biological, clinical and imaging markers that are needed to support the final application to regulators. Global recruitment of patients can also take a long time.
“Patient groups are there not just to support people with rare diseases, but also to provide a reality of what the patient experiences. Obviously when patients are enrolled in a trial, we listen to their needs and tailor their treatment but before a trial starts, a patient group can help not only spread the word about the trial, but also direct the main concerns and queries from the community.” The impact of COVID-19 on trials Clinical trials for rare diseases come with other challenges, such as little treatment data and often no possibility to compare the safety and efficacy of the new treatment. Neither can any of the patients involved be given a placebo, so it is incredibly important to listen to their concerns. With the onset of COVID-19, trials have had to face drastic changes. Dr Camozzi explains, “Many trials had to stop, as hospital settings were diverted for other uses and new protocols had to be created.
Despite the pandemic, the application of digital technology has helped develop trials when medical settings have not been available. That’s why it is so vital to create a link between clinical research organisations and the patients who can advocate for them. Health authorities who have been very considerate of those with rare diseases and their stakeholders have also been working hard to speed up the process.” Despite the pandemic, the application of digital technology has helped develop trials when medical settings have not been available. From healthcare at home to mobile devices, home delivery of the medication and apps, both clinical trials and the search for innovative treatments are once again able to continue.
Paid for by Simbec-Orion
Find out more at simbecorion.com
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Generating insights into the rare disease patient experience is challenging - success comes from tapping into the insights of the community, patients and families, volunteer groups and charities and working in partnership. ~Jayne Spink, Chief Executive Officer, Genetic Alliance UK and EURORDIS Board Member
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ed by Same but
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©Artwork provided by Eurordis