Rare Diseases - Q3 2021

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Rare Diseases

The advantage of newborn screening is that it shortcuts the diagnosis process. ~Nick Meade, Joint Interim Chief Executive, Genetic Alliance UK > P4

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“Rare diseases have become pioneers in tomorrow’s transformations and creative solutions for research and healthcare.” ~Yann Le Cam Chief Executive Officer, EURORDIS-Rare Diseases Europe

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“Better organisation is needed to improve care and the longer term health of ANCA-associated vasculitis patients.” ~Professor David Jayne Professor of Clinical Autoimmunity, University of Cambridge

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Why we need a rare disease policy for everyone Everyone living with a rare condition needs to have a say in action plans to deliver the UK Rare Disease Framework.

T WRITTEN BY

Lauren Roberts Joint Interim Chief Executive, Genetic Alliance UK

he UK Rare Diseases Framework (January 2021) The design of the action plans is an opportunity replaces the UK Strategy for Rare Diseases, which to add detail to the four priorities, to be specific about ended in 2020. We need to get the action plans outcomes, how we will measure them and to fit the for the four nations to implement the Framework priorities to the four NHS’ of the UK and their individual published as quickly as possible to maintain momentum needs. It is also a crucial opportunity to reassess these from the Strategy. priorities to check that they capture the needs Despite the seven years of the Strategy, there is still of everyone living with rare conditions. an enormous amount of progress that needs to be made for people living Opening new dialogues with rare conditions to have as good an To do this, all of the usual suspects experience as possible.

– not least Genetic Alliance UK and Our 2020 survey of more than 1,000 its membership – need to start new We need to start new people living with rare conditions found dialogues, review how we connect with dialogues, review how a complex picture of slow diagnoses, people, make connections and check multiple misdiagnoses, barriers in referral we connect with people, we are as open as we think we are. and lack of awareness of rare conditions Credit to Breaking Down Barriers, the make connections and among healthcare professionals. There #WhoseVoiceIsItAnyway campaign from were pockets of excellent experience, check we are as open as RareQoL and Medics4RD for leading the showing that the NHS can be great for way on this. we think we are. people living with rare conditions, but We might not feel as if we are part of the many respondents faced dispiriting establishment, but if we have the privilege challenges in accessing excellent care. of expecting to be invited to the working groups that deliver new policy, then we surely are. Our platform must Meeting everyone’s needs not act as a barrier to others. We need to share it and, when A 2019 survey by the Government – the National we are not the right voice for a particular topic, we must Conversation on Rare Diseases - gives the basis for the hand it over to those who are. priorities of the Framework. Though the response rate was high, above 6,000, the breadth of diversity of response was narrow, with a majority of the individual responses coming from white females over the age of 45.

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Rare Inspiration.

Changing Lives.

At Alexion, our mission is to transform the lives of people affected by rare diseases and devastating conditions through the development and delivery of innovative medicines, as well as through supportive technologies and healthcare services. alexion.com

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We need to cut time to diagnosis and treatment and make sure that people have access to innovative medicines.

Working to deliver better outcomes for rare disease patients Everyone with a rare disease has the right to early diagnosis and access to specialist care and treatment, according to Ben Whitehouse and Carla Starita, Sanofi UK leaders in rare diseases.

INTERVIEW WITH Ben Whitehouse Head of Rare Diseases, Sanofi Genzyme UK&IE

INTERVIEW WITH Carla Starita Medical Franchise Lead, Rare Diseases and Rare Blood Disorders, Sanofi Genzyme UK&IE WRITTEN BY Tony Greenway

What’s happening in rare diseases today?

Ben: The short answer is ‘a lot’. Work is being done by the life science sector that will hopefully offer the prospect of life-altering and perhaps even curative treatments. The Government has an increased focus on life sciences and acknowledges the opportunity that it presents for the UK to be a science superpower. This year we have had the publication of the Rare Disease Framework, the NICE Methods and Process Review and the unveiling of NHS England’s Innovative Medicines Fund.

However, rare disease treatments can struggle when assessed for treatment as part of the current NICE methodology due to small patient numbers and limited data, and so there is no question that we need to build on this momentum to bring about further changes that will benefit patients.

How did your organisation come to lead the way in rare disease research and development?

Ben: We’ve been working in this space for more than 30 years and now have scientists in areas such as genomic medicine, synthetic biology and multiple types of biologics. Alongside research and development we’ve invested in multinational disease registries, which allow physicians to access clinical real-world evidence and information to identify unmet medical needs and make better decisions.

What drives you forward?

Ben: Two things. First, working with passionate people; and second, working in an area where you can make a real impact on people’s lives. The fact is that every person with a rare disease — 75% of whom are children — should have the right to access treatment.1 At the end of the day, the strength and courage of these patients and their families is a huge source of inspiration.

Find out more at sanofi.co.uk

What needs to change to improve outcomes in rare diseases?

Ben: We need to cut time to diagnosis and treatment and make sure that people have access to innovative medicines. Stakeholders — industry, academia, researchers, governments and patient groups —

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must work better together to build a sustainable model to deliver that outcome. It’s important to place patients at the centre of everything we do, act with urgency, collaborate, listen and be open to new ideas.

Paid for by Sanofi

What changes will make the biggest difference to patients?

Carla: There’s a big role for technology to play.

For example, video offers possibilities for home consultations, while apps can offer tracking and monitoring opportunities. This will make a big difference to patients’ lives because it will reduce the amount of time they need to spend travelling to specialist centres.

Innovative new treatments are essential, too, which is why our researchers are working together across geographies and specialties to accelerate discovery. As a result, we have several new potential treatments in clinical development.

How do you think data and technology will evolve in this space?

Carla: It’s a really exciting time. Technology will continue to boost diagnostic screening, provide patient support and facilitate communication and collaboration between patients, healthcare providers and researchers.

Because reducing time to diagnosis and treatment is so important, we’re hoping to use big data to try to predict who may have a rare disease but who has not yet been diagnosed. AI machine learning can generate algorithms which will facilitate early diagnosis in clinical practice. What’s more, use of this type of tech and data is widespread and growing.

What does the future hold for rare diseases?

Ben: Rare disease is a highly dynamic area and we are approaching a period of change that has the potential to create real benefits for patients.

As a business, we will continue to build on our leadership position to discover, develop and launch new diagnostic approaches, treatments and support to help people living with rare disease.

References 1.Rare Disease UK: Understanding Children and Young People’s Experiences . Available from: https://www.raredisease.org.uk/our-work/research/ understanding-children-and-young-peoplesexperiences/

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Newborn screening – the missing piece of the puzzle?

Diagnosis is the first priority of the new UK Rare Diseases Framework which matches the perspective of people living with rare conditions.

A WRITTEN BY Nick Meade Joint Interim Chief Executive, Genetic Alliance UK

quick and accurate diagnosis unlocks so many aspects of care and wider support, the positives should be clear to anyone who is familiar with anyone living with a rare condition. The earlier you diagnose someone, the better the clinical outcomes.

A diagnosis can also answer questions as to why someone might be affected by a condition and whether it might happen again, what might be next and how the condition might develop. It provides families with the opportunity to plan and make reproductive choices.

With the UK’s progress in genomics for diagnosis, the NHS Genomic Medicine Service in England and wider progress with Genome UK give a reason to be optimistic for continued progress in the diagnosis of genetic conditions which make up 72% of rare conditions. The UK Rare Diseases Framework’s acknowledgement of non-genetic conditions is an important lever for improvements necessary to ensure progress is made for all.

Newborn screening lags behind diagnosis As we heard at a recent meeting of the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions, newborn screening using the heel-prick test is currently only used in the UK

to spot nine rare conditions in newborn babies. The advantage of newborn screening is that it shortcuts the diagnosis process and allows treatment to arrest the progression of a rare condition before it affects the child.

The SMA Screening Alliance joined Genetic Alliance UK members Niemann-Pick UK, Batten Disease Family Association, Alex TLC, Max Appeal and ArchAngel MLD Trust to describe the value screening would bring to the families they support.

Many of these screening programmes already exist in other countries. The meeting endorsed recommendations from Georgina Morton of ArchAngel MLD Trust for the screening gatekeeper UK NSC to form a dedicated team to focus on this specialist method of screening. As well as a more streamlined evidence review process and clear timelines to ensure efficiency and accountability. It is crucial that the whole community now supports these clear aims.

With NICE approving gene therapies that are best delivered pre-symptomatically, but no screening programme for these conditions in sight, we urgently need improvement in the UK NSC’s processes. The incoming UK Rare Diseases Framework Action Plans can set out a pathway to make progress on this.

Hansa Biopharma is proud to support

Rare Disease Day 2021 HANS-MA.EEA-UK.21.001 Date of preparation: July 2021

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We’re shaping a better tomorrow

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More help is needed for patients with genetic vision loss More information is needed about Leber hereditary optic neuropathy (LHON), an inherited and devastating form of vision loss.

He also believes that more understanding of LHON — which he estimates affects between 1,500 and 3,000 people in the UK — is vital.

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O

ne morning in 2013, Matthew Leverington woke up to find that he had lost some of the sight in one eye.

Alarmingly, over the next eight weeks, he began losing sight in his other eye. “I went from having 20/20 vision to being registered as severely sight impaired, with no central vision in either eye,” he reveals.

Ultimately, Matthew was diagnosed with Leber hereditary optic neuropathy (LHON), a rare inherited form of vision loss that predominantly affects young adult men (typically between the ages of 15 to 35), caused by a gene mutation passed down the maternal line. At the time, he was 22 years old with a job in the City and his whole life ahead of him. It was devastating.

“I thought I’d have been aware of a condition that ran in my family,” says Matthew. “But it came out of the blue, so my initial reaction was shock and disbelief, which turned to grief because I was dealing with a loss.” Like many patients with LHON, Matthew retains his peripheral vision and can live an independent life; but he stresses that any restoration of his sight, no matter how slight, would make a huge impact on his quality of life.

Impact on other family members “Without central vision, sight is severely impaired,” explains Dr. Patrick Yu-Wai-Man, Associate Professor and Honorary Consultant Ophthalmologist, Moorfields Eye Hospital, Addenbrooke’s Hospital and the University of Cambridge. “You

can’t recognise people’s faces clearly even from a close distance and it affects reading. You can’t drive and it has an impact on the kind of jobs you can do. It can be socially disabling.”

Yet LHON has wider implications.

“The mother of a patient will have also transmitted the mutation to other siblings,” notes Dr Yu-Wai-Man. “So there may be other family members living with the knowledge that they too carry this genetic change and are at risk of losing vision.” Down the line, it might even influence a couple’s decision to have children.

“The whole family becomes a victim,” agrees Russell Wheeler, a patient advocate for the LHON Society, whose son lost his vision to the condition 10 years ago. “I know of twin brothers who were diagnosed with LHON and lost their vision within a year of each other.

The brother who was waiting to go blind said it was so devastating that it was almost a relief when it finally happened — which is not to downplay its terrible impact.”

Better understanding needed Treatment options in LHON are limited. There is a licensed treatment that is available which may give benefit to some LHON patients, but it is not funded currently by NHS England.

The good news is that research is taking place into understanding the genetic basis of this disease which will shed more light onto the disease itself and the hope is that it may yield other treatment approaches.

Russell says that better psychological support must be made available to LHON patients. He also believes that more understanding of LHON — which he estimates affects between 1,500 and 3,000 people in the UK — is vital.

It’s why he’s so excited about the funding Dr Yu-Wai-Man has received from the National Institute for Health Research (NIHR) to conduct a new data collection study. “It’s scandalous that there are still so many unanswered questions about LHON, so this study is a promising development,” says Russell. “Hopefully its outcome will ensure that research is focused on the right areas, and that regulators and reimbursement authorities will consider the right criteria when deciding whether to approve funding.”

Those impacted by LHON deserve nothing less.

INTERVIEW WITH Matthew Leverington Patient

INTERVIEW WITH Dr Patrick Yu-Wai-Man Associate Professor and Honorary Consultant Ophthalmologist, Moorfields Eye Hospital, Addenbrooke’s Hospital and the University of Cambridge

INTERVIEW WITH Russell Wheeler Patient advocate, The LHON Society

WRITTEN BY Tony Greenway

Paid for by Gensight Biologics

This article was commissioned and paid for by GenSight Biologics.

GEN 0001 Date of Preparation: September 2021

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Rare Headline disease found to affect one in a million Headline

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WRITTEN BY

Michelle Davis Executive Director, International FOP Association (IFOPA)

Paid for by International FOP Association Find out more at coulditbefop.org

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Leave no one behind UN resolution for families living with a rare disease The global community of persons living with a rare disease (PLWRD) is making an urgent and direct appeal to the United Nations (UN) in 2021.

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e are calling on all 193 states of the UN General Assembly to adopt a resolution that addresses the complex challenges faced by families living with a rare disease. Collectively rare diseases are not rare. Their impact is felt by over 300 million people worldwide, as well as their families and society at large.

Calling for equity There are over 6,000 identified rare diseases. The diversity and rarity of each condition leads to limited knowledge and expertise in rare diseases. As a result, PLWRD are often neglected and remain invisible to many health and social systems.

A lack of public awareness also means that this vulnerable community faces a greater risk of discrimination, isolation and exclusion.

Children living with a rare disease face difficult inclusion and integration into education systems that are often ill-adapted to their needs.

Leave no one behind The United Nations is committed to leaving no one behind and promoting inclusive societies.

This mission is expressed through the Sustainable Development Goals (SDG) and has been brought to the forefront by the COVID-19 pandemic, which disproportionally affects vulnerable populations, including PLWRD and continues to widen existing inequalities.

The challenges of the rare disease community are closely linked to key pillars of the SDGs. Children living with a rare disease face difficult inclusion and

integration into education systems that are often illadapted to their needs. Families may struggle to access decent work and have to deal with additional expenses associated with care for rare diseases. This leads to increased impoverishment of the whole family.

Women and mothers are often primary caregivers and experience greater stigmatisation and discrimination. The whole rare disease community surmounts hurdles that limit participation and inclusion in society.

To keep the promise to ‘leave no one behind’, we are asking every country to adopt the UN Resolution on addressing the challenges of persons living with a rare disease and their families.

Rare Diseases International is the global alliance bringing together patient groups active in over 100 countries, including regional organisations for Europe, Latin America and Asia Pacific. We work to promote greater visibility, inclusion and equity for all PLWRD and their families.

Join the call RDI together with EURORDIS-Rare Diseases Europe and the NGO Committee for Rare Diseases have developed the #Resolution4Rare toolkit which provides letter templates, videos and social media posts. We encourage everyone to join the call for a UN resolution by posting on social media and reaching out to their local and national authorities.

For more information and materials, check out Rare Diseases International rarediseasesinternational.org

WRITTEN BY Flaminia Macchia Executive Director, Rare Diseases International

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The world of science is evolving and so must we There must be a renewed effort to evolve medicine access challenges for gene therapy in the UK in order to help those living with rare genetic conditions.

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he last 18 months have been challenging for so many people, and I imagine for the rare disease community it has been particularly tough. As we adjust to living a new type of normal, we must place a renewed focus on improving the outlook for people with rare diseases. Over the next couple of years through scientific breakthroughs, we have a great opportunity to do just that.

WRITTEN BY Owen Marks Head of Rare Disease, Pfizer UK

Find out more at pfizer.co.uk

Introduction of gene therapy Following decades of research and development, gene therapy, a treatment which fixes the ‘faulty’ genes that cause illnesses, could become a new standard of care for people with rare genetic conditions.

Unlike other treatments, gene therapy can offer long-term transformative benefits, either eliminating the need for ongoing therapies or reducing the burden of daily disease management and potentially extending the lives of those with rare genetic conditions. It could also help reduce strain on the healthcare system by limiting the need for ongoing interactions with the healthcare system.

Science has really delivered with gene therapy, but with any new advancement it will bring challenges that will change the status quo. In particular, the way in which new medicines are assessed and valued needs to evolve if we’re to embrace this new wave of innovation.

The rare disease gap For too many years the rare disease community has fallen victim to the rare disease gap, resulting in slow diagnosis and limited access to treatment.1 The National Institute of Health and Care Excellence (NICE) has typically been more geared to assessing medicines that treat tens of thousands of patients or those for ultra-rare conditions, which treat very small numbers of patients. Therefore, many rare disease medicines fall between the gap, not reaching people living with rare diseases.

Evolving assessment of medicines As we prepare for the introduction of gene therapy, that needs to change. In its Life Sciences Vision, the Government has committed to delivering a high ambition NICE Methods Review. Through the recently launched public consultation on NICE Methods, we have an opportunity to ensure the proposals go further to meet the Government ambition and deliver meaningful change for patients.

Now is the time for the pharmaceutical industry, Government, NHS England, NICE and patient groups to work together to deliver on that promise and ensure that the many years of hard earnt science, results in people with genetic rare diseases being able to access the treatment they so rightly deserve.

Tackling unmet need in care for patients with rare diseases Sean Richardson, General Manager UK & Ireland for Alexion, AstraZeneca Rare Disease, discusses development of innovative drugs and his optimism for an exciting future to improve the lives of patients with rare diseases.

Albie, living with LAL-D

INTERVIW WITH Sean Richardson General Manager UK & Ireland for Alexion, AstraZeneca Rare Disease

WRITTEN BY Mark Nicholls

What are the challenges facing patients with rare diseases?

Rare diseases are often severe, chronic, progressive and associated with high mortality. The impact rare diseases have on patients, their families and society is profound, and there remain high unmet needs for people living with a rare disease. This came through clearly in a 2020 survey of 1,000 patients and families conducted by Genetic Alliance UK, supported by Alexion. The survey showed that there are still major unmet needs in the care of patients living with a rare disease across the entire patient pathway.

What are the challenges for clinicians?

With over 7,000 rare diseases and the low prevalence of each disease, the ability for clinicians to have

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knowledge at any level of depth is almost impossible. This results in delays in diagnosis and often leads to misdiagnosis.

What does the new UK Rare Diseases Framework outline?

We are at a critical time in the UK, where we have the potential to change the landscape of rare diseases. The new Framework updates the 2013 Rare Disease Strategy and sets out four priority areas to ensure the lives of people living with rare diseases continue to improve – through faster diagnosis, increasing awareness of rare diseases among healthcare professionals, better coordination of care and improving access to specialist care, treatments and drugs.

What will the NICE Process and Methods Review and the Innovative Medicines Fund (IMF) do to advance this?

These two initiatives offer the opportunity to help improve access to orphan medicines, which has the potential to impact patient care, improve outcomes for people living with a rare disease and create an overall benefit to society.

At Alexion, we believe the NICE Methods review is a vital opportunity for the rare disease community to engage with NICE and seek improvements in the way rare disease medicines are appraised. Similarly, the IMF is an important opportunity to improve access to promising treatments for those with rare diseases, by enabling doctors to use the most advanced treatments.

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This content has been developed and paid for by Pfizer UK PP-PFE-GBR-3881 September 2021

Reference 1. Rare Disease UK (2019).

Illuminating the Rare Reality. [online] London: Genetic Alliance UK. Available at: https://www.raredisease. org.uk/wp-content/ uploads/sites/7/2019/02/ Illuminating-the-rarereality-2019.pdf [Accessed 17 August. 2021].

Paid for by Alexion

A 2020 survey of 1,000 patients and families conducted by Genetic Alliance UK, supported by Alexion.

What is Alexion’s expertise in this field?

Alexion has more than 25 years of experience developing and delivering innovative medicines to transform the lives of patients and their families affected by rare diseases and devastating conditions. We continuously innovate and evolve into new areas where there is great unmet need and opportunity to help patients and families fully live their best lives.

Find out more at alexion.com/ worldwide/UK

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The way to gain 100 million years of life for persons living with rare diseases

Anticipating a new era of rare disease innovation, driven by patients The events of the past couple of years have forced us all to think and act differently in many aspects of our lives. For those living with rare diseases this has long been the norm.

S

ince the start of the pandemic, we’ve come to appreciate the importance and urgency of innovation in facing critical health challenges. We’ve followed clinical trials and become educated in the underlying science in unprecedented ways. We’ve learned to recognise inequities in healthcare and have sought to become more inclusive.

The global crisis has also generated new opportunities and ways of connecting with potential positive implications for rare disease communities.

Adapting during the pandemic Rare disease families have understood and struggled with these realities long before COVID-19. The pandemic has amplified challenges, with many patients experiencing constraints in access to critical medical procedures, trials, testing or treatments, as well as severe financial, mental health and wellness challenges.

Yet rare disease communities, used to responding in real-time to crises, have adapted with resiliency and nimbleness, working together to address issues and help those struggling or left behind.

The global crisis has also generated new opportunities and ways of connecting with potential positive implications for rare disease communities.

Examples of pandemic-driven progress include broadened access to telemedicine, virtual and adaptive trials, an increased emphasis on comprehensive testing, accelerated 08

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development of treatments and more equitable, global access to critical medicines.

A new era for the rare disease community “Despite the challenges around us, there’s good reason for optimism,” says Craig Martin, CEO of Global Genes. “We’re entering a new era in which rare disease communities – connected by shared purpose, technology and data – are playing a central role in driving impact across rare diseases, on a more equitable and global scale.”

Global Genes has adjusted to anticipate changing dynamics and prepare patients, caregivers, and its Foundation Alliance of more than 800 rare disease groups, for what’s ahead.

This includes launching a RARE Community Portal, which allows distinct communities to connect, convene and share information virtually around critical topics or initiatives.

“As leaders, we have a responsibility to be informed, innovative and inclusive in how we work to enable progress across rare diseases,” states Martin. “We need tech to reach communities at scale, identify gaps, and find solutions. But we have to balance that with meaningful, personalised engagement, so we meet people where they are and ensure they’re equipped to take the best next steps forward.”

WRITTEN BY Craig Martin, CEO, Global Genes

A clear, uniform and proactive strategy across Europe, supported by every country in the region, is required to optimise the way that rare diseases are diagnosed, treated, cared for and researched.

WRITTEN BY Yann Le Cam Chief Executive Officer, EURORDIS-Rare Diseases Europe

D

ue to the nature of rarity, the challenges that face the 30 million people living with a rare disease in Europe can only be addressed through cooperation and solidarity. However, these cornerstones of success do not just happen. There is currently no overarching action for rare diseases at a European level and policies have not kept pace with new technologies.

This is why we are calling for the adoption of Europe’s action plan for Rare Diseases 2030 to address the unmet needs and inequalities. This would serve as a crosscutting strategy across geographic borders and sectors to consistently support national activities to ensure that no one living with a rare disease in Europe is left behind.

Rare diseases have become pioneers in tomorrow’s transformations and creative solutions for research and healthcare.

A goal-oriented approach Unlike other public health priorities, such as cancer and obesity, rare diseases currently have no overarching goals that, as a society, we can work towards. By setting such targets at a European level, we are presented with a roadmap for all European countries to ensure that inequalities in addressing the challenges faced by people living with a rare disease are not exacerbated by their country of residence. In turn this could see 100 million years of life gained across Europe.

This should include goals to: • Reduce diagnostic delays for 90% of people living with a rare disease from years or decades to within six months.

• Reduce premature death of children under five by 30%.

• Extend life expectancy by an average of three years across diseases thanks to better management and integration of medical and social care.

• Reduce psychological, social and economic vulnerability of people living with a rare disease and their families by a third.

• Ensure the approval of 1,000 innovative (symptomatic or transformative) treatments for people living with a rare disease.

Investing in a wider society Although our call is directed at the European Union institutions, we know that such a strategy would have benefits across Europe at large: rare diseases know no borders and require collaboration across sectors.

Rare diseases have become pioneers in tomorrow’s transformations and creative solutions for research and healthcare. During the COVID-19 pandemic, we have seen how techniques, such as the RNA vaccines, are based on gene editing techniques, refined over decades to find cures for rare diseases, 72% of which are genetic.

Europe can become a world leader in rare and precision medicines. It can and should defend a model of care that leaves no one behind.

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How novel companies are leading the way in orphan drug strategies Julie Matthews, CEO of TMC Pharma, outlines the importance of devising tailor-made orphan drug development strategies: seeking out rare patients, driving timely trials and regulatory marketing approval.

INTERVIEW WITH Julie Matthews CEO, TMC Pharma WRITTEN BY Mark Nicholls

What makes a company successful in orphan drug development?

When orphan drugs first came to notice in the late 1990s, pharma companies saw insufficient commercial potential.

Small inexperienced companies, on occasion born out of desperation of families afflicted by a rare disease, have led the way in orphan drug development. These small companies therefore require substantial, focussed support by a multi-skilled company such as ours.

After 20 years’ working with many small companies and a diverse range of rare diseases, we have the broad and highly specialised experience necessary to provide innovative approaches to orphan drug development.

How has the orphan drug landscape changed in the last 5-10 years?

Historically, orphan diseases have been neglected by drug developers. Most are serious and life-threatening diseases, patients and their families affected now want to see medicines developed as fast as possible.

Big pharma companies are now involved in the orphan drug arena, but do not generally develop the products themselves. Instead, they wait for small biotechs to develop the drugs and purchase them after marketing approval has been obtained.

Another big area of change has been the emergence of complex advanced medicinal therapeutic products ATMP’s such as cell and gene therapies. The range of medicinal products to treat rare diseases is now at an all-time high.

What are the key success factors for developing new treatments in rare/orphan disease areas?

In orphan drug development, it is important to have a team with not only in-depth but also wide experience. While a small biotech company may have only one or two products in development, our teams are working with around 60 clients, developing over 60 medicines at any given time.

Clearly defined, effective partnerships between the sponsor company, the clinical trials team and the investigational sites recruiting patients ensures highquality trials. Finding appropriate patients to recruit quickly is often helped by working with energetic patient support groups.

How are you accelerating development in this area?

We ensure that companies developing orphan drugs apply for incentives such as orphan drug designation (ODD) which gives expedited processing and less costly regulatory fees.

We help with early definition of the best product development plan, often advising how to run clinical studies in innovative ways to make them more efficient.

Our global team then seamlessly puts plans into action, supporting and driving all development activities through to marketing approval and beyond.

How to support those living with CDH

C WRITTEN BY Beverley Power Chairperson, CDH UK – The Congenital Diaphragmatic Hernia Charity

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Find out more at tmcpharma.com

Paid for by CDH UK

Congenital diaphragmatic hernia (CDH) is a complex rare condition and nobody knows this better than a team of parents on a mission to take on the challenge. ongenital diaphragmatic hernia (CDH) is the malformation of the diaphragm in an unborn baby that results in a hole, which allows abdominal contents to rise up into the chest area, compressing the lungs and the heart. Survival is around 60% and resulting health issues can vary in type and severity.

The work of CDH UK began with the birth of founder Brenda Lane’s daughter 27 years ago and a need for information and support. Brenda realised that talking to other families and finding access to good quality information were key to helping with a diagnosis of congenital diaphragmatic hernia (CDH).

I joined the charity in 2009 after my grandson was diagnosed with CDH before birth. Since then, I have worked

Paid for by TMC Pharma

to reach out to more families and make support more accessible.

Realising research and collaboration were also priorities, I wanted to create innovative and costeffective ways to attract support for the charity and increase voluntary income. By attending events where I could learn, network and promote our work, we were able to establish the first ever voluntary CDH research fund in the UK. Big impacts We support many families across the UK and beyond, providing much needed services and resources. So far, the charity has raised nearly a million pounds for research. Funding has been awarded to various projects including improving counselling for parents, developing core outcome sets,

investigating new therapies, studying outcomes in patients and supporting students in areas of research involving genetics.

Collaborating to help patients and families to enjoy improved outcomes and quality of life is a huge part of our work. Providing data and patient insight, helping with the development of registries and care pathways, data and safety monitoring and reviewing care and services are all in a day’s work.

In 2019, CDH UK published its first research paper ‘Long-term feeding issue and its impact on the daily life of congenital diaphragmatic hernia survivors: results of the first patientled survey’.

We also have an official CDH Awareness Day (28th June) to help raise awareness on a local and global level.

Future goals But there are still many unanswered questions for families and we are determined to continue to try to help answer them and to be a voice for patients everywhere.

We believe the future is bright and have already seen an improvement in survival rates and quality of life, we expect this theme to continue with our help.

To find out more, to collaborate or to donate please visit cdhuk.org.uk/

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Helping to improve treatment and care for ANCA-associated vasculitis patients Although rare, vasculitis affects around 40,000 people in the UK with 18 different forms of the disease, it is estimated a quarter of these individuals are affected by ANCA-associated vasculitis. But the widely varying clinical features, which can mimic other diseases, frustrate prompt diagnosis.

W

hen first given a diagnosis of vasculitis a patient’s first thoughts often are, ‘What is that?’ followed by relief that a reason for their months of ill health has been discovered and there is a way forward.

Understanding the symptoms Vasculitis means inflammation of blood vessels and the different vasculitis syndromes are defined by which blood vessels are involved.

ANCA-associated vasculitis (AAV) is a group of diseases that affects the small blood vessels. Small and medium blood vessels can be found in various parts of the body which can be affected including kidney, lungs and ears.

AAV is divided into three subgroups depending on clinical features which are GPA, MPA and EGPA.

tissue the vasculitis attacks such as arthritis, rash, breathlessness or loss of vision.

The disease occurs spontaneously as a result of an autoimmune process.

Several genes have been identified that predispose to different vasculitis syndromes, although familial cases are rare and one of the more common syndromes.

ANCA-associated vasculitis is characterised by an auto (anti-self) antibody that attacks white blood cells. Occasional cases are linked to an environmental trigger such as silica exposure, infection, drugs and cancer, but in most cases the cause is unknown.

WRITTEN BY Professor David Jayne Professor of Clinical Autoimmunity, University of Cambridge

Finding effective treatment options Steroids, introduced over 70 years ago, remain a widely used treatment because they work fast and are reliable.

However, their psychologic and physical side-effects remain a major problem and a challenge to develop alternatives.

More recently, immune suppressant drugs borrowed from cancer or transplantation are combined with steroids with monoclonal antibody therapies joining treatment regimens.

Small and medium blood vessels can be found in various parts of the body which can be affected including kidney, lungs and ears.

ANCA-associated vasculitis (AAV) is a group of diseases that affects the small blood vessels.

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When a vessel becomes inflamed the wall is damaged and the lumen blocks, denying the tissue it supplies enough blood. In the skin this results in a ‘purpuric’ or spotty rash which can recover completely, while in the kidney this can harm the filters ultimately causing kidney failure, requiring dialysis or a transplant.

Patients experience non-specific symptoms related to activation of the immune system, including fevers, sweats, weight loss and muscle pain, as if they had flu. Then there are symptoms related to the particular

Challenges in diagnosis Treatment controls the disease but delays in diagnosis are common and can result in irreversible damage.

As treatment is reduced the disease can return indicating the need for prolonged treatment.

The multifaceted nature of ANCA-associated vasculitis is a challenge for health care, with many medical specialties involved and ‘ad- hoc’ vasculitis clinics have been developed to try and coordinate care around the patient.

While there have been efforts by the NHS through specialist commissioning, better organisation is needed to improve care and the longerterm health of ANCA-associated vasculitis patients.

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For people living with rare autoimmune diseases such as ANCA-associated vasculitis, patient associations are providing invaluable support Creating a better understanding of rare auto-immune diseases

Finding new ways to manage a life-changing diagnosis

Vasculitis is a collective term for a group of 18 rare auto-immune diseases, all of which involve inflammation of the lining of the blood vessels.

There is no replacement for the relief we feel in being able to talk freely to others who live with the same issues and understand what we are going through.

A

s every part of the body has a blood supply, vasculitis has the potential to affect every organ and every bodily system and function.

Each type of vasculitis is rare, but collectively, vasculitis is classified as “uncommon”. Some types of vasculitis involving the kidneys and/or lungs, such as ANCA-associated vasculitis (AAV), can be rapidly fatal if not diagnosed promptly and treated appropriately.

Different types of vasculitis affect mainly specific age groups. Thus, Kawasaki disease affects infants and very young people; whereas giant cell arteritis (GCA) affects predominantly those aged 70 and over.

Whilst AAV appears to affect the older generation more it can also present in younger patients.

Finding treatment options There is no cure for vasculitis, but with prompt and appropriate care the disease can be controlled.

The general approach of treatment is to suppress the over-active immune response using a combination of steroids and immune-suppressing drugs. The recent introduction of “targeted” monoclonal antibodies (biologics) has transformed treatment outcomes in many instances.

The cause of vasculitis remains obscure but is generally considered to be due to an individual’s genetic predisposition combined with some sort of environmental trigger, such as an infection or exposure to a chemical or drug. Recent advances in genomics might support this theory.

For more information visit vasculitis.org.uk

WRITTEN BY

John Mills Founder & Director of Operations, Vasculitis UK

G

etting a diagnosis of ANCAassociated vasculitis can be life changing as we and our loved ones learn to adjust to treatments, the flare and remission aspect of our conditions, as well as the physical, psychological and social impacts which affect our daily lives.

There are many symptoms, not all of which are visible, and your future plans may need adjusting due to employment changes, medical appointments and managing daily life.

These meetings allow a chance for those involved in research or service development to come along and hear directly from the vasculitis community.

Providing education and support At Vasculitis Ireland Awareness, we hold monthly Zoom meetings to allow people a chance to link and learn from others. They are informed about current vasculitis issues, treatments and research. They also hear from other patient groups, clinicians, researchers and academics.

These meetings allow a chance for those involved in research or service development to come along and hear directly from the vasculitis community about what is important to them.

Vasculitis Ireland Awareness was set up in 2010 in response to the need to connect with others living with vasculitis. We are an all-Ireland support group and are registered as a charity in both jurisdictions.

For more information visit vasculitis-ia.org

WRITTEN BY

Julie Power Patient Contact and Policy Officer, Vasculitis Ireland Awareness

This page has been funded

by Vifor Pharma, but editorial control lies with the contributors.

Vifor only performed a medical accuracy review but was not otherwise involved in the content.

UK-NP-2100225

Support is just a click away, you’re never alone For many people with vasculitis, or other chronic conditions, things don’t suddenly get better with diagnosis, long term support is vital to manage the condition.

S

o finally, after what felt like a lifetime of chronic pain, anxiety, hospital appointments, tests, more tests, bewilderment, fear, exhaustion and worsening symptoms, you’ve been diagnosed with a type of vasculitis, such as ANCA associated vasculitis.

Powerful immunosuppressants, a treatment plan and regular monitoring mean that this potentially life-threatening disease has been brought under control and you’re now on the path to remission.

So why do you still feel so fearful?

The road beyond remission can be fraught with a combination of invisible symptoms such as sleepless nights, depression, anxiety and an inability to work leading to financial worries, exhaustion, mood disorders and a strain on relationships.

For conditions like this, where stress can cause flare ups, intervention and support are essential.

Providing practical and holistic support Surveys, clinical studies and patient stories have all highlighted the need for charities to provide practical and holistic support for vasculitis patients. That support is readily available.

Vasculitis charity websites point to patient led support groups and helplines. This vital contact reduces feelings of isolation and can improve coping skills and self-care.

Emotional wellbeing is equally important and the provision of mindfulness therapies, exercise, sleep and pain management, 24/7 counselling, diet and nutrition support are all available online and through residential well-being courses at LCTF. Such crucial support empowers patients to regain control of their lives.

For more information visit thelaurencurrietwilightfoundation.org

WRITTEN BY Adrienne Currie Co-founder and Trustee, The Lauren Currie Twilight Foundation

Paid for by Vifor Pharma

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Why collaboration is important to accelerate change Few rare diseases have a treatment, small market size, lack of information and low awareness can hinder progress. Can we build the right networks to contribute to developing new treatments?

O

f the thousands of rare diseases currently identified, around 10% have an approved treatment. It is a significant health issue when orphan conditions affect approximately 30 million patients or around one in 17 people in Europe alone. Lives continue to be impacted by illness and unacceptable, untimely death.

WRITTEN BY Jo Balfour, Managing Director, Cambridge Rare Disease Network

The complexity of developing treatments There are a myriad of challenges in developing treatments for orphan diseases. Low awareness of rare conditions is common amongst the public and health professionals. Additionally, there is an inherent economic conundrum where the market size is small. A company developing a treatment may find it hard to cover its costs unless the drug carries a very high price tag. Low geographically scattered patient numbers can blight clinical trials and regulators still favour endpoints compared to placebo groups.

Collaborating for improved outcomes As an organistion, we recognised the potential for our networks to collaborate, to drive improved outcomes for rare disease drug development and through this our Companies Forum evolved. This is a progressive group of industry leaders from pharma, biotech and healthcare who meet to exchange ideas and develop a joined-up approach for supporting and influencing drug development strategy with patient groups, for patients.

In rare diseases, there is a wealth of unmet therapeutic needs and limited resources available.

We realised the need to avoid duplication, minimise

Agenda & tickets: www.camraredisease.org /raresummit21

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We believe that the whole drug value chain, from scientific discovery to development to access, should be considered as a whole to ensure that the right treatment gets to the right patient at the right time for the right price.

Capturing the patient perspective We are great believers in the power of patient voices to help the industry overcome the above challenges – and by this, help make treatments possible for their conditions. We have welcomed advocacy groups to share their unmet needs with our Companies Forum members, recognising that they have become essential in creating transformational therapeutic advances and increasingly they want to be involved in the drug development process earlier and more often.

Together, we can tackle the challenges of developing treatments for the 90% of patients living with rare conditions head on.

A powerful movement for change gathering 300 great minds in rare diseases make connections exchange ideas debate possibilities build a better a future together

7 th OCTOBER

created by

inefficiencies and look beyond the few rare diseases currently receiving the most attention. We believe that the whole drug value chain, from scientific discovery to development and access, should be considered as a whole to ensure that the right treatment gets to the right patient at the right time for the right price.

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Advertorial

Offering turnkey solutions for rare disease patients Gareth Williams, President of Sciensus Rare, discusses his organisation’s role in providing turnkey solutions for rare disease pharma and biotech companies.

We can safely provide product across the life cycle, from early access to commercial launch, delivering vital medication and clinical services for families that need it most.

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What can Sciensus Rare help a pharma/ biotech company within rare disease with?

We have been supporting rare disease patients since 1992, treating on average over 200,000 patients a year - we understand the challenges for the patient, clinician and pharma.

Sciensus Rare supports our pharma clients wherever a patient lives, or the regulatory governance of that country.

We can safely provide product across the life cycle, from early access to commercial launch, delivering vital medication and clinical services for families that need it most. To date this has covered over 70 rare diseases for 20 clients.

What is your turnkey solution for rare disease pharma and biotech companies launching products in the EU and MENA (Middle East/North Africa)?

Many of our pharma clients are launching their first product and have little or no existing infrastructure.

Sciensus Rare offers a turnkey solution, tailored to each individual client’s requirements, allowing them to focus on their sales and marketing efforts while we handle the challenging country to country regulatory and distribution requirements. They can tap into an existing proven network in 28 countries, with trading relationships already established with over 4,000 hospitals, retail pharmacy and wholesalers. We have in country General Managers and business development within Europe, and MENA who have local expertise, and a multilingual international customer service team expert in individual country regulations and tendering.

What is your capability from early access to warehousing, logistics, patient support and outcome monitoring?

Within early access we conduct a full regulatory assessment, make recommendations on options for access, support clinicians with funding requests and facilitate ordering via our online portal Sciensus Axcess. If your patients need any further support, we can advise on a range of service through our nurse led support programs.

Within logistics we offer a fully managed and regulatory EMA GDP compliant service, taking control of the entire supply process around warehousing, distribution and cash collection. Last year we took 1.1 million orders and made 1.2 million deliveries.

We can also handle country specific contract and tendering requirements.

With over half of our staff clinically trained, our approach to patient care is flexible and designed around the requirements of the drug and the needs of the patient, clinician and pharma company. With 500 in house and a further 450 flexible contract nurses, we have clinical trial nurses trained in specific therapy areas, nursing homecare with drug delivery and nurse interaction options, in country patient support and training.

We have European coverage in the home or in clinical setting for outcome monitoring and controlled data collation. That includes pharmacovigilance reporting, patient safety follow ups, and realworld evidence for extensions, reimbursement approval, and contribution to registries.

What elements do your customers value?

A constant theme coming back from our customers is that we understand rare diseases, whether it be unlicensed or licensed products and make the process simple for them. Working across multiple countries with a single specialist is just easier, giving them full transparency on activities carried out on their behalf, they can rely on us to achieve KPIs particularly around order processing and cash collection, and resolving any issues in a timely, ethical and regulatory compliant manner.

We have customers with products focussing on thousands to tens of thousands of patients, clients who have grown with us, starting with an initial product, to us now supporting their entire portfolio. We see ourselves as a healthcare partner rather than a standard service provider. We help pharma and patients get the most out of their products. This has all grown our business to more than £350 million across 28 markets.

INTERVIEW WITH Gareth Williams President, Sciensus Rare WRITTEN BY Mark Nicholls

Advertorial by Sciensus

Find out more at sciensusrare.com

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Doctors cannot know everything about every disease, but they can be taught to understand the signs of a rare disease and know how to support patients who present with one.

Patient groups are a vital support to rare disease patients Patient groups can play a large role in supporting patients living with rare diseases, but why do they not yet play a formal role within the NHS?

W WRITTEN BY Dr Rick Thompson CEO, Findacure

hen we attend the GP with a problem, we expect our doctor to have the knowledge needed to identify the cause and treat it.

However, if you have a rare disease, the doctor-patient dynamic can rapidly fall apart.

Patients often exhibit complex symptoms across multiple systems. These can seem unrelated, making a diagnosis harder and a referral pathway unclear.

This kind of disheartening experience is hugely damaging to the patients involved. Doctors cannot know everything about every disease, but they can be taught to understand the signs of a rare disease and know how to support patients who present with one.

Whatever their mission, patient groups act as a hub of knowledge and, more importantly, help patients live with their rare disease.

Patient groups fill the void Currently, the best sources of support, knowledge and guidance for rare patients are patient groups. These are communities affected by a rare condition. Many share personal experiences of life with a disease.

Others drive research or collaborate with clinicians to form dedicated medical guidelines for their condition. Whatever their mission, patient groups act

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as a hub of knowledge and, more importantly, help patients live with their rare disease.

In some much rarer cases, these patient groups gain recognition within the NHS. Patient groups can provide direct support to clinicians and influence services designed to support their rare disease. They coordinate clinics, accept referrals of newly diagnosed patients and support clinical trial recruitment.

A more formal role for patient groups needed Over the last year, the rare disease community has been actively discussing the Government’s new UK Rare Disease Framework, which is the UK’s latest policy designed to help improve the care received by rare disease patients.

Its major themes – diagnosis, education of health care professionals, care coordination and access to medicines – are all areas that patient groups are already engaged in and can help to drive change further. What they lack is formal recognition from the UK health system and the resources to deliver work at scale.

By fostering more collaborations with these experts in rare disease and finding efficient ways to fund them, patient groups can have a more formal role in delivering the services and support to rare patients around the UK, that they need and deserve. This simple collaborative approach would help the NHS’ mission to deliver equitable care for all.

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Seb Peters ©Cambridge Rare Disease Network

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The difficulty in developing a treatment for these rare diseases is that the detailed physiopathology is not well known.

The role of the CRO in developing rare disease treatments Creating new treatments for rare conditions is one of the most complex areas facing physicians, patients and drug manufacturers.

D INTERVIEW WITH Dr Carlos Camozzi CRC - Management Consulting GmbH

WRITTEN BY Mark Nicholls

eveloping drugs for rare diseases remains one of the most challenging areas of pharmacology. With some conditions having very few cases globally, finding enough candidates to particate in clinical trials is difficult. And then there are the challenges of acquiring funding and identifying the academics and researchers to conduct the studies.

While the landscape in this area is changing with an increasing number of contract research organisations (CROs) leading the way, Dr Carlos Camozzi - who has almost three decades of experience in the field of rare diseases – says there are still major challenges.

Rare diseases As chairman of the scientific advisory group (Rare and Orphan Advisory Board) for CRO SimbecOrion, he also runs CRC Consulting, which supports development of orphan drugs – pharmaceutical agents for diseases that are so rare that under normal market conditions would not be profitable to produce.

The 7,000 rare diseases, affecting 400 million people globally, fall into three main categories: anatomical disorders mainly corrected with surgery; inherited metabolic disorders and neurodegenerative diseases; and rare oncological disease.

He says: “The difficulty in developing a treatment for these rare diseases is that the detailed physiopathology is not well known or not fully understood, and there are no biomarkers to evaluate response to the treatment or evaluate progression of disease.”

Orphan drugs The complexity of the scenario means companies trying to develop orphan drugs must work closely with academics and research groups. Further challenges lie in attracting investment, and for physicians to translate the research into clinical application, whilst ensuring efficacy and safety.

However, once a potential therapy has orphan drug designation, different regulatory and market conditions apply to encourage its development, acknowledging that there are so few patients to participate in clinical trials.

He says this is where CROs can make an impact in supporting smaller companies developing orphan drugs because they are efficient at identifying suitable patients and the best centres for research. Their years of experience also means they can respond quickly and navigate the regulatory landscape.

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Niemann-Pick Dr Camozzi says technology is proving invaluable in reaching out to patients with rare conditions and helping them participate in and remain in trials, often remotely. This has proved invaluable during the COVID-19 pandemic, with social distancing and shielding for vulnerable patients.

“Artificial intelligence can be applied to help to analyse data collected, so technology has given tremendous advantages for development of orphan drugs,” he adds.

Diseases where there has been success in helping develop therapies include Niemann-Pick, which is a rare inherited disease that affects the body’s ability to metabolise fat (cholesterol and lipids) within cells, and Niemann–Pick type C. As an example, NAGS (N-acetylglutamate synthetase) deficiency is a genetic disorder characterised by a lack of the enzyme N-acetylglutamate synthetase, had only 27 known patients in Europe making it impossible to run a clinical trial. However, when asked to do so, Simbec-Orion was able to respond quickly and lead a process which collected data from clinical records of patients treated with “carglumic acid”, cleared documentation, supported regulatory inspection, and saw a therapy approved for patients.

Patient support Patient groups are important contributors in developing drugs for rare diseases. They play an important role in helping small companies and CROs understand patient priorities, challenges, and desired study outcomes as well as help find patients to participate in research.

Simbec-Orion’s Senior Medical Director, Dr Romillie Cruz, commented that the ability for CROs to respond quickly to changing scenarios within rare disease drug development is also crucial, as patients can deteriorate rapidly without new therapy options.

This underlines the value of a CRO that understands patient centricity, values sponsor’s goals and milestones as their own, with an experienced clinical trial team that is dedicated to deliver and quality.

“An experienced clinical trial team that will be able to guide the sponsor at every step of the clinical trial is a key consideration in making the right choice for a CRO partner.”

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