Rare Diseases - Q1 2022

Q1 2022 | A promotional supplement distributed on behalf of Mediaplanet, which takes sole responsibility for its content

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Rare Diseases A Mediaplanet campaign focused on

Iggy and his mother Sarah enjoying life in Amsterdam

Image from Journey of Hope exhibition | © Same but Different / Ceridwen Hughes

Iggy has been diagnosed with TRIP12, however, his parents tend to say he has a genetic condition as it is so rare the name would not have any significance.

They place importance on not using labels because to them he is just, Iggy, and not a condition.

For the first time, I didn’t feel alone in this crazy journey and that things are just as they should be. To be heard, and for Iggy to be seen, was empowering and therapeutic, scary and absolutely our raw truth out there.

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“Rare Disease Day helps individuals and families affected by a rare condition to find a community.”

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

Online

“Rare diseases represent one of the most complex, vexing and important global health challenges we face.”

Craig Martin CEO, Global Genes

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Why utilising remote healthcare in 2022 will benefit patients Remote healthcare has an exciting place in the future of rare disease care. But first, we must listen to patients and learn from their experiences during the pandemic.

O WRITTEN BY Dr Amy Simpson Senior Researcher, Genetic Alliance UK

ver the past two years, in an effort to reduce transmission of COVID-19, many parts of the NHS pivoted to deliver services remotely. Phone triage, helplines, appointments and family meetings via video conferencing were used in an effort to provide continuity of care to those living with rare conditions.

Providing care virtually has implications for the way individuals experience and manage their conditions. It is important now to pause and reflect in order to harness and sustain the successes from the pandemic.

Understanding the risks The limitations of remote healthcare must be realised. Face to face contact is still important in many cases, for example, for those receiving a new diagnosis when sensitivity and support is key. We need more evidence about the use and impact of remote healthcare for those with the most complex conditions and for those still seeking a diagnosis.

Furthermore, we must be careful not to leave anyone behind, including those without the resources and/or digital literacy to engage - the diversity of the We need more evidence community should be acknowledged. about the use and impact Patients with rare conditions are already often underserved compared to those with of remote healthcare for those with the most complex common conditions. It is paramount that by using remote healthcare, we do not conditions and for those increase this gap.

Remote healthcare provides opportunities Published and anecdotal evidence point to benefits of remote healthcare for patients with rare conditions. It can offset the costs and challenges of travelling long distances to frequent appointments. This is especially still seeking a diagnosis. true for those with disabilities who find What is next for remote healthcare? travelling tiring. It can allow access to specialist advice Remote options have an exciting role to play in the future in a timely way, which can be vital during acute illness of rare condition care. Collaboration is key - patient choice and emergencies. needs to be the deciding factor in how care is delivered, Embedding virtual practices into healthcare also offers along with service users having an involvement in the an opportunity to address priorities of the UK Rare Diseases design and evaluation from the outset.

Framework by connecting professionals with one another more readily, improving coordination of care.

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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/worldwide/UK

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Highlighting disparity in rare disease journey and care

journey to diagnosis and care.

In the report, one patient mentions “As I am undiagnosed, I get sent off to various hospital departments with no coordinated approach… so frustrating, I feel like a hamster on a wheel, going nowhere.”1 Patients with rare conditions continue to experience a high level of misdiagnosis, with 52% of those diagnosed within the last five years waiting over two years for their diagnosis.1

One in two patients living with a rare disease believe the quality of their care has not improved in the past five years and 41% have waited more than five years for an accurate diagnosis.1

C WRITTEN BY Sean Richardson General Manager UK & Ireland, Alexion, AstraZeneca Rare Disease

reating more awareness of the journey that patients living with rare conditions encounter, highlight the current realities of care. The current shortcomings in care for patients living with a rare disease are telling, as outlined in the Reforming Rare Disease report led by Genetic Alliance UK and supported by Alexion UK using findings of a patient/caregiver survey.1 Equity for people living with a rare disease Using key findings from the report, a video was produced in consultation with Genetic Alliance UK, Beacon,

Medics 4 Rare Diseases and Rare Revolution. It focuses on championing equity for people living with a rare disease by highlighting the urgent reforms needed to improve patient care. It follows one individual on two very different pathways put in parallel, illustrating the long and frustrating journey that so many people with a rare disease experience to reach a diagnosis and receive the care they need.

It was important to launch this video for Rare Disease Day 2022 to mark this key milestone and depict the issues that are faced by some 3.5 million people in the UK2 on their

Paid for by Alexion, AstraZeneca Rare Disease

Raising awareness for faster diagnosis Our goal for the video is to create another reminder of the importance of implementing the new Rare Disease Framework (launched by the government in January this year) to enable faster diagnosis and better coordination of treatment and care.

As a company, accelerating diagnosis and referral for specialist treatment is a priority, as well as implementing metrics and standards to ensure the decision-making process is shared with patients.

References

1. Alexion, Reforming Rare Diseases Report, December 2020. Available at: https://rareexperience2020. geneticalliance.org.uk/wp-content/uploads/2020/12/ Reforming-Rare-Diseases.pdf. Accessed January 2022.

2. UK Department of Health and Social Care. Policy Paper: The UK Rare Diseases Framework. 9th January 2021.

Available at: https://www.gov.uk/government/publications/ uk-rare-diseases-framework/the-uk-rare-diseasesframework. Accessed January 2022.

Date of preparation: February 2022 Document number: UK/NP/0067

Find out more at alexion.com/ worldwide/UK

How a collaborative approach will help tackle rare diseases We have come so far in rare disease research and treatment, but there is still so much more to do. Only by working collaboratively can we transform the lives of children living with rare diseases.

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rom its beginnings as a townhouse with two physicians in 1852 to today’s life-saving advances in gene therapy, Great Ormond Street Hospital (GOSH) has transformed the lives of millions of seriously ill children. Without charitable funding and the help of research partners and supporters, this would not have been possible.

WRITTEN BY Dr Kiki Syrad Director of Impact and Charitable Programmes, GOSH Charity

recent awardees who have benefitted from the partnership.

Professor Sowden and her team are developing a cutting-edge stem cell therapy for children with inherited eye diseases. By replacing the damaged light-sensing cells in the retina at the back of the eye, this therapy has the potential of restoring sight and offering hope of a treatment.

Dr Counsell’s pioneering study seeks to develop a novel gene therapy for children with maple syrup urine disease (MSUD), a serious inherited condition caused by a harmful build-up of substances in their blood and urine, which We have come so far, but can severely impact brain development if with as many as five children untreated. Dr Counsell and his team hope that gene therapy could lead to the first a day losing their lives to ever cure for children affected by MSUD rare diseases, there’s much and pave the way for the development of more we can do. treatments for similar conditions.

Innovations in rare disease research With partnerships forming a vital part of our charity’s five-year strategy, it’s important we work collaboratively to fund pioneering paediatric research for children.

This Rare Disease Day we celebrate our work with one of our key research partners, LifeArc – an independent medical research charity dedicated to transforming promising life science ideas into life-changing medical breakthroughs for patients. Together we fund projects to accelerate progress of new discoveries, so they can be developed into the next generation of diagnostics, treatments and cures for rare and complex diseases. By harnessing the expertise and resources of both organisations, we have helped fund seven studies over the last two years.

Professor Jane Sowden and Dr John Counsell of UCL Great Ormond Street Institute of Child Health are just two

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Brighter future for children with rare diseases We have come so far, but with as many as five children a day losing their lives to rare diseases, there’s much more we can do. We know we can achieve more for children when we work with others and thanks to valued partners, alongside the generosity of our supporters, we can continue to invest in the latest medical research and change children’s lives for the better.

Paid for by Great Ormond Street Hospital Children’s Charity

Find out more at gosh.org

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New medicine has potential to improve symptoms of fragile X syndrome Clinical trial set to test a potential new medicine to treat fragile X syndrome, a genetic condition that often leads to behavioural and learning challenges.

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ragile X syndrome is the most common inherited cause of autism and intellectual disability. It is caused when the FMR1 gene stops making a protein important for brain development. This change leads to marked effects on brain function early in life.

Fragile X can be associated with many difficulties, such as problems with learning and information processing, high anxiety, irritability, aggression, sleep problems and seizures.

Managing symptoms At the moment, the main way of helping people with fragile X is through educational and behavioural interventions, as well as good care and support for the person and their family. Unfortunately, these are not always available and, even when they are, some people still require medicine to help manage their symptoms.

No medicines have been approved to treat fragile X symptoms, although certain medications are sometimes used to try and help the behavioural difficulties.

These include selective serotonin reuptake inhibitors, antipsychotics and stimulants.

While sometimes helpful, these medicines are not always effective and can have unpleasant side effects.

Clinical trials for new medicine Over the last few years, the scientific understanding of fragile X has increased considerably, which has led to clinical trials of new medicines. One interesting way forward may be through cannabidiol.

This is the focus of a new clinical trial using an experimental pharmaceutically produced gel, absorbed through the skin into the bloodstream. Importantly, cannabidiol does not cause the “high” seen with marijuana. The chemical pathways in the brain affected in fragile X can be targeted by cannabidiol, so giving it as a medicine may help to improve some of the behavioural difficulties. The new trial is to assess whether it is indeed helpful for people with fragile X. As research continues, scientific advances in fragile X are moving at a fast pace. It is hoped that these advances will soon be translated into meaningful benefits for people with fragile X and their families.

WRITTEN BY Dr Andrew Stanfield Senior Clinical Research Fellow, Patrick Wild Centre, The University of Edinburgh

Paid for by Zynerba Pharmaceuticals

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The power of rare: share your colours on Rare Disease Day WRITTEN BY Yann Le Cam Chief Executive Officer, EURORDIS - Rare Diseases Europe

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On 28 February, over 100 countries and regions around the world join their voices to raise awareness and generate change for the 300 million people with rare diseases, their families and carers.

he rare disease patient community remains a marginalised and largely invisible population, with little information about their diseases and rights, few treatments available and a high level of psychological, social and economic vulnerability.

Rare Disease Day helps individuals and families affected by a rare condition to find a community. It also improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

Participating in the Global Chain of Lights #LightUpForRare and the Share Your Colours storytelling initiative is one example. By sharing your colours and shining a beacon from your home, office or town, you are showing your solidarity with the 300 million people with rare diseases worldwide and the 30 million living in Europe.

A global collaboration Rare Disease Day is the globally coordinated movement on rare diseases, initiated in 2008 and led by EURORDIS and 67 national alliance patient organisation partners working Raising awareness towards equity in social and taking action opportunity, healthcare and Though the campaign is access to therapies for people Over the last 13 years, Rare community-led, everyone living with a rare disease. can get involved, including Over the last 13 years, Rare Disease Day has played a critical families, caregivers, Disease Day has played a critical part in building an international healthcare professionals, part in building an international researchers, clinicians, rare disease community that rare disease community that is policymakers, industry is multi-disease, multicultural multi-disease, multicultural and representatives and the and multi-lingual, but united multi-lingual, but united in purpose. in purpose. general public in raising awareness and taking action Every year the campaign has for this vulnerable population who require immediate grown in momentum with new countries getting and urgent attention. involved. New financial support from the Chan As the global pandemic continues to challenge Zuckerberg Initiative and Fondation Ipsen under the the world, this year’s Rare Disease Day continues aegis of Fondation de France, on top of contributions to be a bit different. However, just because we can’t from the European Commission as well as corporate come together physically, doesn’t mean we can’t and individual donors, has enabled us to expand the stay connected. campaign reach worldwide.

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Resources include its online education module, Rare Disease 101, the basics of rare disease. Further information on the challenges patients and their caregivers face is also available via Medscape’s Rare Disease Learning Centre, which M4RD Chief Executive, Dr Lucy McKay, describes as “a strong signal to the global medical community that rare disease is relevant and it needs their attention.”

Transforming the odyssey Dr McKay believes that all doctors have the potential to transform patients’ experience of rare diseases. Its social media hashtag #daretothinkrare aims to inspire doctors to improve their own skills and care offerings, Dr McKay feels that every doctor needs to understand the relevance of rare disease to their clinical practice, can work alongside their “expert patients” and develop a real sense of curiosity and compassion for what patients with rare and undiagnosed conditions are going through.

Rare disease education is key to enabling medics to achieve the best for their patients

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The rare disease revolution may have arrived, but medical education is still playing catch up.

INTERVIEW WITH Dr Lucy McKay Chief Executive Officer, Medics4RareDiseases

INTERVIEW WITH Hansa Bhargava, M.D Chief Medical Officer, Medscape Education

WRITTEN BY Ailsa Colquhoun

n an ideal world, a patient with a rare disease would have a timely diagnosis, mental health support, care in a specialist centre, excellent communication from their local hospital and GP, and receive support from a patient advocacy group in the hope of research providing a cure.

The reality is that most people with a rare disease wait longer than five years for a diagnosis, spending a lot of that time in the revolving door of GP and hospital appointments, endlessly repeating their health story. For many this “diagnostic odyssey” leads to social isolation, loss of income or education and worsening mental health.

Improving patient advocacy Around 3.5 million people in the UK live with a rare disease, which is defined as a disease affecting no more than five in every 10,000 people. Most rare diseases have a genetic origin and will present in children, three in 10 of whom will die before age five.

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One in 17 people will be affected by a rare disease in their lifetime.

Yet in Europe, fewer than one in five clinicians say they feel confident in their ability to correctly diagnose a rare disease. Hansa Bhargava, M.D, Chief Medical Officer at Medscape Education points out: “It may take many years before a patient receives their diagnosis. This delay can often be attributed to the lack of familiarity among clinicians about the signs and symptoms associated with rare diseases.”

Disease heterogeneity, patchy infrastructural support and lack of local clinical expertise underlines the need for better diagnosis of rare disease, which is why M4RD, a charity registered in England and Wales, was set up. Its founders are doctors with a personal interest as well as first-hand experience of the limitations of rare disease medical training.

The charity aims to reduce the diagnostic odyssey and improve patient experience through advocacy aimed at medical professionals.

Paid for by Medscape

M4RD is sponsored

by Alexion, Biomarin and SOBI. Company sponsorship does not equate to endorsement of it or its products.

Even if there is no treatment, a diagnosis can at least help the patient and family understand what they are facing. They can start to focus on how to manage the condition and their ‘new normal’.

Effective symptom management The charity believes that advances in genomics, diagnostics and therapeutics have transformed rare diseases into an exciting area of medicine for doctors, with a great potential for their development. For patients, better care coordination and more effective symptom management can offer quality of life improvements even for an incurable disease.

Dr McKay says: “Even if there is no treatment, a diagnosis can at least help the patient and family understand what they are facing. They can start to focus on how to manage the condition and their ‘new normal’. A management plan including symptom control and peer-support is vital, just as for other long-term conditions. There is no reason why people with rare diseases should be denied the chance to live life to the fullest. The hope is that in 10 years’ time, that fullest will be even fuller still.”

Find out more at medscape.org/ sites/advances/ rare-diseases m4rd.org

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©Ceridwen Hughes/ Same but Different

The Journey of Hope exhibition

by Same but Different

Support groups go beyond borders to connect rare disease patients WRITTEN BY Dr Rick Thompson CEO, Beacon: for rare diseases

Banding together with those who share a similar life experience allows us to receive the help needed in challenging situations. But what do you do when your life is an ultra-rare one?

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inding others who are affected by your condition around the world is a way to widen your support network and identify common challenges you share with other rare conditions.

These approaches are increasingly used in rare disease patient advocacy, as we saw first-hand during Beacon’s International Rare Disease Showcase.

International patient organisations are becoming more common and impactful. Whether formed as social media communities due to the extreme rarity of the condition (like Acrodysostosis Support and Research) or through the coalition of national disease-specific organisations (like SMA Europe), they all help to connect people globally.

Collaborations drive change SMA Europe’s European Alliance for Newborn Screening highlights what these groups can achieve. By uniting academics, patient organisations and pharmaceutical companies, they are implementing a systematic screening approach for spinal muscular atrophy across Europe by 2025. This will ensure that treatment is started early enough

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to prevent a life of severe disability for hundreds of children.

These collaborative projects are key to success in rare diseases.

Whether it is a conference for rare disease patient organisations across Africa or a single patient-researcher moving internationally to collaborate on treatments for their own rare condition, global interactions drive change. Borders and sectors become obsolete. All that rare disease patients and their families care about is that someone, somewhere, is trying to improve their quality of life.

Patient groups to the fore Patient organisations fill this role. They use their personal understanding of rare conditions to push for change. In the US, the Chan Zuckerberg Initiative has recognised this vital niche, committing hundreds of thousands of dollars to support the growth and development of patient groups through their Rare As One program. We in the UK must do more to support these groups to deliver crucial work and collaborate with others worldwide.

Adoption of UN resolution is huge triumph for rare disease community A ground-breaking resolution from the United Nations finally gives visibility to 300 million persons living with a rare disease (PLWRD) and their loved ones worldwide.

WRITTEN BY Flaminia Macchia Executive Director, Rare Diseases International (RDI)

WRITTEN BY Durhane Wong-Rieger RDI Council Chair, Asia Pacific Organization for Rare Diseases (APARDO), President, Canadian Organization for Rare Diseases, CEO

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o mark Rare Disease Day, the global community celebrates the adoption of the first-ever UN resolution on “Addressing the Challenges of Persons Living with a Rare Disease and their Families.” The resolution commits the UN to tackle the challenges of this vulnerable community as it strives for social justice, human rights and greater health equity.

Advocating action and change The adoption of a resolution by all 193 UN Member States is a triumph of grassroots action and coordinated advocacy on a global scale. The civil society partners - Rare Diseases International (RDI), the NGO Committee for Rare Diseases and EURORDIS – progressively expanded support from the UN Member States and agencies while activating a global network of organisations to lead advocacy targeting national authorities and representatives.

Leaving no one behind Partners worked together to help every country understand that while rare diseases certainly represent a health concern and demand a commitment in terms of universal health coverage, the challenges of PLWRD go far beyond health.

We needed to demonstrate to the UN that the challenges of this population are social development concerns and should be addressed by the UN within the Agenda for Sustainable Development, which promises to leave no one behind.

The strength of this collaboration is reflected in the final text, which affirms the need for international partnerships and action related to health, education, gender equality, employment, poverty and reduced inequalities. The text also emphasises the responsibility of governments and national policymakers to develop and adopt measures at a national level.

Impact on the rare disease community The impact of the resolution is in its application for the benefit of persons living with a rare disease and their families. For the rare disease community, this global document represents both a recognition and an instrument for social change and advocacy at the regional, national and local levels. It is a game-changer. When advocating national policymakers and governments, rare disease civil society organisations are now supported by a powerful declaration from the United Nations.

For Rare Diseases International and its members, the next milestone is the development of specific international documents and strategies, as well as collaborations with UN agencies, such as the WHO, to strengthen health and social systems and make a real difference for persons living with a rare disease around the world.

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Easing the trauma for families affected by painful sickle cell disease It was the traumatic experience Hayley King faced when she took her young daughter to hospital with her first major sickle cell crisis that prompted her to take action.

C INTERVIEW WITH Hayley King Founder, Cianna’s Smile PAGE WRITTEN BY Mark Nicholls

ianna was diagnosed with the genetic condition when she was three days old but had her first major ‘crisis’, the excruciating pain that comes with the restricted blood flow sickle cell disease (SCD) causes, when she was five and was taken to hospital. For Hayley, the events of that day were a dramatic illustration of the lack of support for those living with the disease and their families and how poorly informed healthcare professionals (HCPs) were about SCD. Cianna’s Smile Despite Cianna displaying the tell-tale signs of a sickle cell crisis, they were told there was nothing wrong with her.

“It was at that moment that I decided to do something to change this,” says Hayley.

Cianna’s Smile was subsequently established as a registered charity to raise awareness of SCD and offer support to parents and families. A main focus is on reducing the isolation families experience by running activity days, virtual coffee mornings, focus groups and carers lunches, with hopes to gain funding for a weekend away for families. Hayley emphasises: “We support the whole family because having a child or parent with SCD is one thing, but the effects are experienced by the whole family.”

Social challenges The charity also raises funds, including a gala dinner, and “blood drives” advocating the importance of blood donation as people with SCD may need blood transfusions to prevent anaemia.

With SCD, red blood cells become sickle shaped and rigid, blocking blood flow and causing excruciating pain known as a sickle cell crisis. Some 15,000 people in the UK have SCD, which mainly affects people of African, Caribbean, Mediterranean and South Asian descent. The debilitating illness can lead to social challenges including anxiety, depression and isolation.

Inherited condition The charity is developing a training programme for medical students about day-to-day life with SCD and educating people on how SCD is inherited. Hayley says: “It is traumatic seeing your child in pain and there is also the guilt I experience because it is an inherited condition.”

For Cianna, 14, and her family, SCD impacts daily life. “Every day as a parent I have to be hyper-vigilant, making sure that we are doing everything to prevent a crisis,” says Hayley.

The charity is also developing literature and online resources, supported by Global Blood Therapeutics (GBT), a company working to develop treatments for people living with blood-based disorders including SCD.

Page paid for by Global Blood Therapeutics

Shining a light on those living with sickle cell disease Charity groups and campaigners are raising awareness of sickle cell disease as those living with the most common genetic condition in the UK continue to face barriers to healthcare access.

S INTERVIEW WITH Nigel Nicholls General Manager UK, Global Blood Therapeutics

INTERVIEW WITH John James OBE Chief Executive, Sickle Cell Society

ickle cell disease (SCD) is the most common genetic condition in the UK, but people living with SCD still face barriers accessing care and treatment. Campaigners also fear there is a lack of awareness among the public and healthcare professionals (HCPs).

In the UK, 15,000 people have SCD and one in seven adults of African and Caribbean descent carry the sickle cell gene.

Lack of investment John James OBE, Chief Executive of the Sickle Cell Society, which GBT supports, says the lack of SCD research and funding has been “appalling.”

While that is changing, as companies such as Global Blood Therapeutics (GBT) focus on disease-modifying treatments for SCD, it remains a condition affected by inequity. As well as lack of investment in specialist services and poor recruitment to ‘red cell’ clinical posts compared to other blood-related positions, James adds:

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“I think there has been an element of racism and discrimination which has impacted on decision-making and investment.”

Life-threatening disease SCD is an inherited health condition with a life expectancy of approximately 30 years less than the general public. The condition affects haemoglobin, causing round red blood cells to become crescent-shaped, in turn reducing blood flow and resulting in progressive and life-threatening complications, including damage to major organs and pain crises.

Barriers to accessing healthcare for SCD patients were highlighted in the all-party parliamentary group for sickle cell report “No One’s Listening.” It found patients received sub-standard care, particularly in accident and emergency; low awareness and training among HCPs; lack of understanding of the pain experienced and negative attitudes to people who live with SCD.

“We believe SCD training, particularly for nurses, should be mandatory and have recommended NHS England revisit workforce and investment in SCD services,” adds James.

Raise awareness Treatments are limited and are primarily pain relief, but can also involve bone marrow transplant, blood transfusions, hydroxyurea, gene therapy, diet and hydration.

GBT is working to develop lifechanging treatments for people with blood disorders, but General Manager Nigel Nicholls warns that patients must have a choice of treatments as “not every drug suits every patient.”

“While there has been a woeful lack of innovation and investment, I am proud GBT is focused on bringing more innovations in SCD and is working to develop a pipeline of molecules which we hope will address some of the needs,” he says.

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