Rare Diseases
“To truly acheive ‘health for all,’ rare diseases must be a global health priority.”
Debra Bellon, Strategic Engagement Manager, Rare Diseases International Page 02
“Expanded screening for rare diseases is essential for healthier futures and social equity.”
Gulcin Gumus, Research & Policy Senior Manager, EURORDIS-Rare Diseases Europe Page 04
Momentum grows towards a WHA Resolution on rare diseases
A World Health Assembly (WHA) Resolution on rare diseases is crucial to make rare diseases a global health priority and improve the lives of the 300 million persons living with a rare disease worldwide.
Today, thanks to the mobilisation of this community of patients, families, researchers and clinicians, science is advancing, healthcare is improving; and policies are emerging in more countries, leading to improved outcomes for persons living with a rare disease (PLWRD).
Global action needed for rare diseases
However, this progress has not been consistent across all communities. PLWRD across the globe continue to face delays in diagnosis, limited access to treatment and high costs. To improve the rare disease ecosystem, collective action through a collaborative and multisectoral approach is crucial. To truly achieve ‘health for all,’ rare diseases must be a global health priority.
That is why Egypt, Qatar, Spain, Malaysia and France are co-sponsoring a resolution entitled ‘Rare Diseases: A Priority for Global Health Equity and Inclusion’ at the World Health Assembly (WHA) 78 in May 2025 and calling on other Member States to cosponsor the initiative.
What will the Resolution address?
A WHA Resolution will provide Member States with a tangible framework for action and a clear and detailed roadmap. It will establish global targets and strategic goals, along with specific actions to achieve them. The guiding principles of this plan will include a common reference point for identifying rare diseases and a commitment to people-centred primary healthcare and universal health coverage. It will advocate for an integrated approach to care throughout an individual’s life and ensure that policies and practices are informed by the best available evidence.
To ensure effectiveness, a robust process for accountability and monitoring will be established, allowing for the tracking of implementation progress. Additionally, a dedicated budget for the WHO will be allocated to support member states in executing the plan, ensuring that resources are available to facilitate these critical actions.
An opportunity for leadership
This WHA Resolution is an opportunity for Member States to strengthen their positions as leaders in healthcare innovation, cement their commitment to health equity and inclusion and contribute their respective expertise and resources to improve the lives of PLWRD not only nationally, but globally.
It will be the catalyst that urges Member States to work together towards enhancing policy processes, advancing research, accelerating innovation and improving access to care for PLWRD worldwide.
Uncommon multiple sclerosis journey and the valuable impact of patient groups
I was diagnosed with multiple sclerosis (MS) at 26. I’ve come to see patient groups as David in the bible story ‘David and Goliath.’
Who recalls growing up playing ‘Spot The Difference’? You are given four images and told to locate the one that wasn’t like the rest — the one that didn’t belong. What happens when that image is you?
Challenges of tackling rare disease
Being born with anaphylactic food allergies, my childhood was constantly plagued by a sense of not belonging — being ‘other.’ Sure, I looked like the other children, but I was navigating an adult world with adult consequences at an age when my peers were simply worried about making friends. I was clearly different. I didn’t fit the mould. I couldn’t even be ‘box standard’ when it came to my allergies: anaphylactic allergies to watermelon — when watermelon is 90% water; it’s laughable.
A rare understanding
that a parent won’t do for his or her child. I’ve seen this relentless fire in my own parents’ eyes when they had to advocate for me when I was young. I know what it’s like to face a future shrouded in mystery — never knowing what’s next.
I know what it’s like to face a future shrouded in mystery — never knowing what’s next.
I know the feelings of isolation and fear that come with a chronic illness. When I began my career at the UK rare disease charity, Beacon, I quickly developed a kindred spirit with the rare community. There is nothing
Why patient groups are essential Patient groups are vital. These compassionate and knowledgeable groups are who my family and I turned to after each shocking diagnosis. I’ve come to see patient groups as David in the Bible story ‘David and Goliath.’ Patient groups (David) are the brave souls who face institutions and systems that are far bigger than themselves (Goliath) to fight for a better future for their rare disease community. Patient groups arrive with one or two tools (David’s slingshot and stones) and are aided by umbrella organisations, such as Beacon, who upskill them in key areas for success. Patient groups already have the belief, determination and passion necessary. It is our duty to arm them. Spoiler alert: David wins.
Navigating rare liver diseases: how informed patients can drive better care
Patient empowerment, which ensures people have access to information and the ability to participate in making decisions about their care, is critical given the challenges and debilitating symptoms that can be caused by rare liver diseases.
PALLSC-UK-001496 September 2024
WRITTEN BY David Montgomery
Director,
eople living with rare liver diseases share many challenges, including delayed diagnoses, misdiagnoses, limited treatment options and a lack of available clinical specialists and appropriate care plans. It’s therefore critical for them to be empowered with information so they can be involved in decisions about their care.1
How to empower rare liver disease patients
The question of patient empowerment for those living with rare liver diseases is particularly relevant in September when we recognise Primary Biliary Cholangitis (PBC) Awareness Month. This milestone brings to life the experiences of those living with PBC, a rare and progressive autoimmune liver disease that is on the rise worldwide.2 This condition, which primarily affects women, can lead to chronic inflammation and scarring of the liver and even liver failure if left untreated.
How empowerment could unlock better outcomes for those living with PBC
1. Diagnostic delays: Due to low awareness and the non-specific nature of the most common symptoms including fatigue and chronic itch, people often live with the condition, and worsening symptoms, for prolonged periods before finally receiving a diagnosis – often which they may be forced to advocate for.
2. Misdiagnosis: There is a misconception that most liver diseases are caused by alcohol consumption or other lifestyle factors. This is not the case with PBC, but the fear of stigma can often haunt patients. It can even lead to misdiagnosis and mean people living with PBC can feel ashamed to speak about their condition.
3. Psychosocial impact: The chronic nature of PBC, coupled with its often debilitating symptoms, can impact mental wellbeing.3 People living with PBC can also feel unheard due to suggestions that symptoms may be self-inflicted, meaning they need to engage with psychological services or community support, which can be all too often difficult to access in the current UK healthcare system.
How to find information and support
Everyone is different and may have very individual questions, but you are your best advocate. Look to reliable sources, such as patient organisations and healthcare professionals — it can be useful to prepare for any appointments by keeping a list of questions and knowing what you would like to get out of the appointment. It’s also important to keep track of any changes in your condition or symptoms including how you may feel mentally. However, the biggest factors you can directly control are lifestyle choices like your diet and exercise — maintaining a healthy lifestyle plays a large role in managing PBC.
Everyone is different and may have very individual questions, but you are your best advocate.
Mo Christie, Head of Patient Services at the PBC Foundation, recently commented: “Living with PBC myself, I understand how debilitating the symptoms can be and the full breadth of unmet needs and challenges. It can be confusing and worrying to receive a diagnosis of PBC, but there is such a strong community of support out there. At the PBC Foundation, we provide information, tools and resources to give people a voice and ensure they are listened to and understood.”
Community role in patient empowerment
At Ipsen, we understand that receiving a diagnosis of a rare liver disease can be one of the most emotionally turbulent moments in a person’s life. That’s why we closely listen to and work with those living with rare liver conditions through advisory boards, focus groups and individual conversations to understand how we can help address their needs, and how we can partner with the community to do so.
Our ambition is to help people living with these rare conditions to live life to the full every day — by doing everything in our power to deliver advances in treatments for rare liver diseases that both manage progression of disease and address the effects of symptoms.
Empowered patients achieve better health
Patient empowerment has a host of benefits, including more effective self-management, greater participation in research and clinical trials and improvements in the care patients receive. Ultimately, empowered patients can achieve better health outcomes and mental wellbeing.4 Working together, we can ensure that people living with rare liver diseases are increasingly able to access the treatments and innovation they urgently need.
References
1. Hirschfield GM, et al. Expert Rev Gastroenterol Hepatol 2021;15(8):929–939.
2. Younossi ZM, et al. 2019. Diagnosis and Management of Primary Biliary Cholangitis. Am J Gastroenterol. 114(1):48–63.
3. Sivakumar, T., & Kowdley, K. V. (2021). Anxiety and Depression in Patients with Primary Biliary Cholangitis: Current Insights and Impact on Quality of Life. Hepat Med, Volume 13, 83–92.
4. The PBC Foundation. Living with PBC – self-care. Advocate for yourself. Available from: https://www.pbcfoundation.org.uk/living-with-pbc/self-care/. Last accessed: September 2024.
Medical
Ipsen UK and Ireland
This article has been commissioned by Ipsen. Ipsen also provided editorial content for this article.
How to prove orphan drug cost-effectiveness and safety to secure market access
Pharmaceutical market access — getting a drug paid for (or ‘reimbursed’) by a country’s healthcare system so it can be used by clinicians — is a complex process, especially in rare diseases.
Securing market access requires showing a drug to be safe, efficacious and costeffective when compared to existing drugs for the disease in question.
Orphan drug access challenges
For orphan drugs, small patient populations mean there may not be sufficient clinical trial data to reach standard definitions of statistical significance, resulting in high levels of uncertainty regarding how effective a drug actually is. This, along with high prices, means that proving an orphan drug to be cost-effective is a difficult task.
Of course, lower quality clinical evidence does not equate to lower patient need; for many rare diseases, there are no approved treatment options despite high clinical burden. Some countries have recognised the unique challenges orphan drugs face by introducing specialised processes, such as the NICE highly specialised technology process in England or adapting their existing processes. Typically, these result in increased rates of positive recommendations for orphan drugs.
Orphan drug value demonstration strategies
Unfortunately, several markets still make no allowances for orphan status. Those that do vary significantly in the exact way they go about it. Pharmaceutical companies and the agencies that work with them are therefore forced to pursue novel ways of demonstrating an orphan drug’s value. In the absence of gold-standard randomised controlled trials, which compare a drug to existing (in rare disease, typically off-label) treatments, health economists can use statistical methods to conduct an indirect treatment comparison (ITC).
Alternatively, data from several trials or case studies can be pooled to increase sample sizes, which requires a systematic review of the existing literature on a disease. These reviews, as well as clinician engagement activities such as advisory boards, can provide a more well-rounded view of the existing treatment landscape.
Unified efforts for rare disease treatments
Regardless of the approach chosen, pharmaceutical companies, agencies and governments must continue to work towards improving access to orphan drugs so that patients with rare diseases can access the novel treatments they desperately need.
A closer look at newborn screening disparities and needs across Europe
Explore disparities in newborn screening across Europe and discover why expanded screening for rare diseases is essential for healthier futures and social equity.
In Europe, significant disparities exist in newborn screening programmes. For example, Italy screens for over 45 diseases, exceeding the efforts of other countries. In contrast, England’s National Health Service screens for only nine conditions, though this will soon increase to 10.
Newborn screening programme disparities
Programme disparities go beyond the number of diseases screened; the types of conditions included also vary significantly. Some countries have expanded their programmes to cover a wider range of conditions, but there is little consensus among European countries on which diseases should be included.
In May 2024, EURORDIS-Rare Diseases Europe released findings from its Rare Barometer survey on newborn screening. The survey revealed that 73% of over 5,000 respondents would have found it beneficial if the rare disease affecting them or a family member had been diagnosed at birth. Furthermore, 90% of respondents believed that all rare diseases should be screened for at birth, even without a dedicated treatment. This would lead to quicker diagnoses, better recognition of social support needs, improved healthcare follow-up and harm prevention.
Beyond healthcare, early diagnosis can lead to better recognition of disabilities, resulting in more appropriate social support and enhanced opportunities for independent living. Newborn screening can promote longer, healthier lives and enhance the wellbeing of affected families.
Newborn screening concerns
Despite overwhelming support for expanded newborn screening, a minority (11%) expressed concerns about potential anxiety, stigma and discrimination associated with early diagnosis. These concerns highlight the need for robust public policies to tackle discrimination, provide guidance on data safeguards and promote counselling and mental health support for families of newborns diagnosed through screening.
Furthermore, 90% of respondents believed that all rare diseases should be screened for at birth, even without a dedicated treatment.
Clear advantages of screening for more conditions It can significantly reduce the often years-long, traumatic diagnostic journeys that many families impacted by rare diseases endure, facilitating timely access to healthcare and crucial early interventions. Another EURORDIS survey of over 10,000 rare disease community members revealed an average diagnostic wait of 4.7 years, despite early detection being fundamental to ensuring healthier and longer lives for children.
Call for expanded screening
September marks Newborn Screening Awareness Month. The call for expanded screening is not just a healthcare issue but a matter of social justice and equity. The screening programme disparities across Europe necessitate comprehensive measures to ensure all children with rare diseases are identified, giving them the opportunity for healthier futures.
A special thanks to the Rare Barometer team for their invaluable work in conducting the survey and gathering these critical insights.
WRITTEN BY Gulcin Gumus Research & Policy Senior Manager, EURORDIS-Rare Diseases Europe
How light has become a constant threat to patients with a painful rare disease
No medication was available to treat the underlying cause.
last for hours and days,” he says.
“As a child, I remember periods of horrible, intense pain after exposure to sunlight. Now, I try to avoid it.”
Another patient, now 27, remembers her painful symptoms beginning when she was nine years old. She was 15 before a consultant dermatologist diagnosed her with EPP. She was prescribed high doses of antihistamines to reduce inflammation and sun lotions that reflect visible light — but no medication was available to treat the underlying cause.
“I’m mainly symptomatic in the summer,” she says. “Even so, when I was a teenager, I remember feeling embarrassed about EPP because no one had heard of it, and at that age, you don’t want to be different. Now that I’m older, I actively do things to prevent symptoms and make my condition more manageable. If I’m out with friends in sunny weather, I’m completely open about taking antihistamines or applying lotion.”
How a treatment has made a lifechanging difference
However, in March, she started receiving treatment as part of a patient access scheme with NHS Scotland, and life improved dramatically. “It’s made a massive difference, mentally and physically,” she admits. “I’ve been on holiday to Croatia and Italy and able to wear a bikini and sunbathe. Ordinarily, I’d have been anxious about symptoms developing — but not this time.”
Light is a source of agonising pain for patients with a rare condition called erythropoietic protoporphyria. As a result, they have been forced to cover up and live sheltered lives.
Imagine experiencing extreme, searing pain every time you are exposed to light — sunlight or, in some cases, fluorescent or LED. It would be agony — physically and emotionally. Yet, that’s what some patients with erythropoietic protoporphyria (EPP) deal with daily.
What is erythropoietic protoporphyria?
EPP is a rare, inherited, metabolic condition — caused by abnormally low levels of the ferrochelatase (FECH) enzyme — where light exposure triggers a severe phototoxic reaction. Damage is caused at a vascular level, deep within skin. Symptoms include intolerable pain and swelling, most commonly on the hands, arms and face, which typically last for several days and do not respond to pain medications. As
patients are at risk of second-degree burns and incapacitating ulcers, they are shielded from light sources and the outdoors. At school, affected children can be cruelly stigmatised as ‘vampires’ by their peers.
“EPP patients are handicapped for life, often have a depressive mood disorder and some have suicidal ideation since they are not able to participate in normal life,” explains Dr Philippe Wolgen, CEO of biopharmaceutical company, CLINUVEL.
Personal stories about how EPP affects patients’ lives
Dr Geoff Sloan, Consultant Anaesthetist at Salford Royal, knows its impact only too well as an EPP patient. “My parents told me that when I was a baby, they would take me out in the pram, and I would start intractable screaming that would
Dr Sloan also received treatment when he took part in the first CLINUVEL drug trial around a decade ago. “It was life-changing,” he says. While the drug is approved in the UK, it is not reimbursed by the NHS in England, Wales and Northern Ireland. Dr Wolgen finds this perplexing.
“According to prescribing physicians and EPP patients, with the treatment, they can now live a life they’d never imagined, providing them freedom from burns,” he says. “For the first time, patients go outdoors, enjoy life with their families and lose anxiety of ulcerations, scarring and untreatable pain.”
The company is now developing treatment for EPP’s ‘sister disease’, variegate porphyria (VP) — where patients experience blisters within hours of exposure to daylight — and xeroderma pigmentosum — or ‘children of the moon’ who are 10,000 times more at risk of skin cancer.
“Seeing the response from patients and their families is an unexpected gift each day,” says Dr Wolgen. “Words cannot describe the satisfaction of developing effective drugs with minimal side effects for thousands of patients.”
INTERVIEW WITH Dr Philippe Wolgen CEO, CLINUVEL
INTERVIEW WITH Dr Geoff Sloan Consultant Anaesthetist, Salford Royal and EPP patient
INTERVIEW WITH EPP Patient
WRITTEN BY Tony Greenway
Image provided by CLINUVEL
TCutting the rare disease diagnostic odyssey and customising treatments
Rare conditions are individually rare, but they are collectively common. This makes overcoming barriers to diagnosis and effective treatment especially vital.
hree and a half million people in the UK live with a rare condition. Many face a long and difficult diagnosis journey, with less than 10% of conditions having a treatment. This presents two priorities. We must first reduce the ‘diagnostic odyssey’ and the average of four to five years taken for an accurate diagnosis. Moreover, treatments must get to patients as quickly as possible.
Early diagnosis through genomic screening
For many with a rare condition, there are early signs that something isn’t quite right. This typically leads
Driving change for the rare disease community through research
Discover how UK charities and research drive progress in rare disease diagnosis and treatment. Learn about key investments and plans in the latest report.
WRITTEN BY
Nicola Perrin
Chief Executive, Association of Medical Research Charities
It can take over five years to get a proper diagnosis for rare diseases in the UK. Only 5% of these diseases have approved treatments, and the UK lags behind other countries in providing access to such treatments.
Research driven by patient needs
Rare diseases are a great burden on the lives of patients, their families and carers. With physical and psychological symptoms that reduce life expectancy and quality of life, they seriously impact dayto-day activities, independence and wellbeing.
So how do we tackle the unmet needs of the rare disease community?
Research — research shaped and driven by those with experience of the diseases. This is where our charities step in.
to many hospital visits and tests, often with no conclusive answer and frustration for families. Many conditions can be improved, and the effects lessened if it’s caught early.
The Generation Study — a worldleading research study led by Genomics England and the NHS — will investigate the use of whole genome sequencing to screen for more than 200 rare conditions in newborns that can be hard to diagnose and for which NHS treatment is available.
The study aims to identify children with these conditions sooner and provide faster access to treatment. It will also generate evidence to help inform future decisions on whether
genomic testing should be offered to all babies at birth and whether it could help to shorten the diagnostic odyssey.
Custom treatment development pathway
Treatments are always being developed. There has been interest in customised drugs based on someone’s genetics. It’s exciting, but there is a long and complex journey ahead to an approved pathway allowing oneoff drugs to be designed, made and administered quickly and safely.
A new approach is needed for rare genetic conditions where we will never be able to test the medicines on groups of hundreds or thousands of patients — as you would with a medicine for a common condition.
The UK Government recognises this, supporting the Rare Therapies Launch Pad, a new programme that will develop a pathway for children with rare conditions to access individualised therapies.
Tackling medicine customisation challenges
Customising medicines for people with rare conditions holds enormous promise. The technology exists, but we must solve challenges surrounding appropriate regulation, bespoke manufacturing processes and pathways for developing and administering rare medicines before attempting to widely make what was long thought impossible, possible.
Investments in rare disease research
Over the last 10 years, 143 medical research charities have funded more than £2.1 billion in rare disease research. They contribute half of public investment in UK rare disease research, funding across the pipeline from fundamental science to clinical trials.
Driven by patient priorities, they are building capacity in the workforce, developing research resources, improving diagnosis, transforming clinical trials, accelerating access to treatments and catalysing partnerships across the sector. You can find several compelling examples in the ‘Charities in action: tackling rare diseases’ report by the Association of Medical Research Charities (AMRC).
There have also been many significant investments beyond the charity sector. Since 2021, the National Institute for Health and Care Research
and the Medical Research Council have invested £14 million into the UK Rare Disease Research Platform. LifeArc provided £100 million for rare disease research including £40 million for a network of Translational Rare Disease Centres. The Government published the UK Rare Disease Framework and two Rare Diseases Action Plans. We look forward to seeing what further commitments 2024 will bring.
Collaboration boosts rare disease research
The charity, public and industry sectors must continue to work together to build, shape and strengthen the UK’s rare disease research landscape. It is only by combining resources and adopting innovative approaches that we can accelerate the delivery of the diagnostics, treatments and care that rare disease patients deserve.
(AMRC)
WRITTEN BY
Dr Ellen Thomas Chief Medical Officer, Genomics England
Equality in rare: building a better future for people with rare diseases
We all deserve an equal opportunity to live a full life, yet people living with rare diseases encounter significant health inequalities including years of delayed diagnosis, misunderstanding of symptoms and limited treatment access.
The new Labour government has said it will focus on tackling health inequalities and factors driving variation in access to NHS services.
Addressing health inequality
Deborah Richards, Interim General Manager and Head of Commercial at Alexion, AstraZeneca Rare Disease, welcomes this: “The UK has an opportunity here. If the new 10-year NHS plan draws on the work of the UK Rare Disease Framework, embedding practical actions to understand and address these drivers of inequality, then people living with rare conditions could routinely get access to the diagnosis and care they urgently need.”
In particular, the road to diagnosis is long and emotionally challenging, taking on average five years1 and involving consultations with multiple doctors and specialists. “Despite being burdened with symptoms that impact day-to-day life, people with rare diseases can feel unheard and excluded,” says Deborah. This period is often referred to as a ‘diagnostic odyssey.’
Disrupting the diagnostic odyssey
UK/NP/0166
Expanding their partnership with digital health company Mendelian on Project FIND, Alexion has focused on creating AI software that scans electronic health records to help doctors identify clusters of rare disease symptoms. “This innovative tool has huge potential to rapidly accelerate time to diagnosis; we are seeing these results in real time,” says Deborah.
Redefining value in rare
Only around 10% of rare diseases have approved treatments.
The UK has made progress in expanding the role of genomics in rare diseases to accelerate diagnosis, improve care and drive future research. For Deborah, the opportunity is clear: “We need to build on the success of the 100,000 Genomes Project, and creation of the NHS Genomic Medicine Service, by embedding testing within clinical pathways. Additionally, the world-leading Generation Study will improve our understanding of the potential benefits of genomics in newborn screening to aid diagnosis and treatment.”
For those 20% of rare diseases which do not have a known genetic basis2, new technology, including AI, provides potential solutions to rapidly accelerate diagnosis times.
The treatment landscape for rare conditions remains a challenge to ensure patients have access to the latest therapies — only 10% of rare diseases have an approved treatment.3 The level of evidence generated by clinical trials in small populations creates complexities when evaluated by the National Institute for Health and Care Excellence (NICE). Deborah notes: “Where treatment options do exist, they often have transformative, even life-saving, benefits for people but current assessment approaches for rare diseases need to evolve to truly capture and recognise the full value of a rare disease therapy.”
Putting patients first
Despite these challenges, Deborah is positive about the future. “There is change, hope and focus from many dedicated people across the UK,” she says. Working with the NHS, a new government, committed patient communities and industry partners, we have the building blocks to turn the UK into a country where people with rare diseases truly experience health equity in diagnosis and can access life-changing therapy and care.”
References
1. EURORDIS. Earlier, faster and more accurate diagnosis. Available at: https://www.eurordis.org/ our-priorities/diagnosis/. Accessed: September 2024.
2. GOV.UK. Policy paper England Rare Diseases Action Plan 2022. Available at: https://www. gov.uk/government/ publications/englandrare-diseasesaction-plan-2022/ england-rare-diseasesaction-plan-2022. Accessed: September 2024.
3. Kaufmann et al. From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. Orphanet Journal of Rare Diseases (2018) 13:196. Available at: https://doi. org/10.1186/s13023018-0936-x. Accessed: September 2024.
WE ARE PROUD TO SUPPORT RARE DISEASE DAY 2024
Alexion's 30 years of pioneering science has led to the development of transformational medicines for people like Anna living with a rare disease.
Celebrating 10 years in Ireland, with sites in Dublin and Athlone, we are proud supporters of Rare Disease Day 2024.
UK/NP/0167
Date of prep: Sep 2024
UK/NP/0152 Date of Prep Feb 2024
ANNA LIVING WITH A RARE DISEASE
INTERVIEW WITH Deborah Richards Interim General Manager & Head of Commercial, Alexion, AstraZeneca Rare Disease
Paid for by Alexion
WRITTEN BY Tony Greenway
Free genomic sequencing offers hope for children living with a rare disease
There are 350 million undiagnosed children worldwide, with most lacking access to genomic testing for proper diagnosis and care options.
In a world where medical advancements often seem reserved for the fortunate few, iHope Genetic Health (iGH) is striving to change the narrative for children living with rare diseases.
Call for equitable genetic testing in children
The World Health Organization has called for genetic testing to be as accessible in low to middle-income countries as it is in high-income countries. With an estimated 350 children worldwide still undiagnosed, the urgency for equitable access to state-of-theart genomic-based sequencing has never been more critical.
Many affected children reside in low to middleincome countries or under-resourced areas and face a bleak future without proper diagnosis and treatment. iGH, a groundbreaking programme of Genetic Alliance, provides hope for the future. Genetic Alliance, established in 1986, has been a strong advocate for giving individuals, families and communities a voice in genetics and their health. iGH advances this mission by offering free genome and exome sequencing to children from underresourced communities who are suspected to have genetic diseases. This initiative aims to provide accurate diagnoses to enable appropriate follow-up care, including medicines,
clinical trials and support where possible.
Collaborative genetic diagnostics initiative
The significance of this initiative cannot be overstated. iGH partners with Illumina, which generously donates the necessary materials for sequencing. iGH collaborates with prestigious laboratories that conduct the sequencing and interpretation pro bono, ensuring that financial barriers do not impede the path to a diagnosis.
The urgency for equitable access to state-of-the-art genomic-based sequencing has never been more critical.
The importance of this initiative is deeply meaningful to me on a personal level. Going through the process of finding a diagnosis for my own children 30 years ago was a time filled with fear and uncertainty. For parents, the distress of witnessing their children endure unexplained symptoms is indescribable. Genetic Alliance’s dedication to reducing this suffering through advanced genomic technologies is not just a professional commitment but a personal mission for many involved.
WRITTEN BY Colby Rogers Editor and Director of Social Strategy, Patient Worthy
Connect with others and share your authentic rare disease patient story
The rare disease community is vast and diverse, encompassing around 300 million people globally. Taken as a whole, rare disease is not as rare as it seems at first glance.
Regardless of the numbers, one defining quality of the rare disease community is that it is full of fierce advocates who stick together to lead their cause into the future. The mantra ‘nothing about us, without us’ has been a rallying cry for patient advocacy for decades.
Empowering patients through authentic voices
At Patient Worthy, we believe that the best way for patients to advocate for themselves is to do it with their own, authentic voices.
Since 2015, we have been helping rare disease patients around the world tell their stories. Whether it’s the latest in rare disease news, courageous patient profiles or heartfelt interviews on our award-winning podcast, Patient Worthy strives to bring the champions of the rare community together. We’re proud to say that we have helped many people reading this feel more connected with their rare communities.
of the body. These patients talked about the challenges in their lives, but also about how becoming part of an acromegaly mentorship programme has provided a way to support their patient communities.
One idea that we consistently hear from rare disease patients is how connecting and interacting with others like them has been a lifeline on their journey. We’re proud to say that this collaborative interview was read by more than 10,000 people around the world at PatientWorthy.com.
The mantra ‘nothing about us, without us’ has been a rallying cry for patient advocacy for decades.
WRITTEN BY Sharon F. Terry CEO, Genetic Alliance
Growing awareness of acromegaly
Recently, we shared a story that brought together the powerful voices of six people living with acromegaly, a rare hormone disorder characterised by abnormal growth in the extremities and other areas
Amplify your story and inspire change
Another way that Patient Worthy helps to connect rare disease patients is through patient ambassadorship. We help connect patients with opportunities around the world that need your authentic story, sharing that message with other patients, caregivers and medical professionals. Your journey can help raise awareness and inspire change. Your story could be just the thing that someone else like you needs to hear.
Paid for by Patient Worthy
European legislation must be revised to
boost
innovation in rare disease
Public healthcare budgets are being reduced, making access to new treatments difficult while stricter evidence requirements further limit availability across Europe. The lack of treatment availability, combined with the difficulties and delays in diagnosis of rare diseases, poses a societal challenge.1
Burden of rare diseases is unacceptably high
aimed to trigger action in Europe by encouraging a more refined approach to understanding rare diseases.
adequate support and loss of income and expenses associated with the condition.1,2
Complementing the economic focus of the PENDULUM EU project, these challenges are highlighted through Chiesi GRD’s It’s Rare for Me special edition, launched in the UK, which offers a platform for people with rare diseases to share their stories.
Accelerating treatment availability to alleviate burdens
UK-CHI-2400699 | September 2024
Chiesi Global Rare Diseases (GRD) is a business unit of the Chiesi Group established to deliver solutions for people living with rare diseases. Last year, Chiesi GRD published the report ‘Rare disease burden of care and the economic impact on citizens in Germany, France and Italy’ as part of the PENDULUM EU project,
Ways to champion people-powered communications in rare diseases
With over 6,000 unique rare diseases1 and limited patient populations, evidence to guide effective care is scarce. How can we create meaningful communications for people living with rare conditions and the wider community?
WRITTEN
Rare diseases pose unique challenges for traditional communication. Real-word insights, global collaboration and personalised engagement can help address these issues.
Listen to lived experiences
Tell the personal stories of those living with rare diseases. These narratives can provide unique insights that help identify patterns in rare diseases that may not be evident from the limited clinical data available. As real-world experiences become increasingly important in healthcare, patient stories are crucial for conveying a deeper understanding in our communications.
Enhancing connectivity
Facilitate opportunities to share
The report found that the cost burden for rare diseases is significantly higher than for high-prevalence diseases, with rare diseases averaging €107,000 per patient per year compared to €7,000 for highprevalence diseases. Indirect costs make up a substantial portion of this burden, averaging 29% when treatment is available, which rises to 45% when no treatment is available. These indirect costs are primarily shouldered by families and caregivers, creating broader economic impact.1
Living with a rare disease comes with challenges for families and caregivers, including delays to diagnosis, managing the physical and emotional burden, finding
To positively impact the future of the rare disease community, long-term changes need to be implemented at both the national and European levels. Technological advancements are enhancing the understanding and diagnosis of rare diseases as well as generating an increase in research funding.
To support this, European pharmaceutical legislation should be revised to boost competitiveness and innovation in Europe. On a national level, payers need to adopt flexible payment models to ensure timely access to therapies.1
“We urge all stakeholders to collaborate in finding solutions that enhance patient quality of life and outcomes. By improving funding, access and innovation for rare diseases, we can create positive value and reduce the significant economic burden.”
Personalised engagement
Provide tailored education. Rare diseases often necessitate care from various HCPs due to their complex and multifaceted nature. A onesize-fits-all approach to education fails because each speciality plays a unique role in the healthcare journey, supporting the need for specialityspecific information.
References
1. Chiesi. Global rare diseases report: Rare disease burden of care and the economic impact on citizens in Germany, France and Italy. https:// chiesirarediseases. com/assets/pdf/ rare-disease-burden-ofcare-and-the-economicimpact-on-citizens.pdf
[Accessed September 2024]
2. Mcmullan J, Lohfeld L, McKnight AJ. Needs of informal caregivers of people with a rare disease: a rapid review of the literature. BMJ Open. 2022;12(12):e063263
insights between stakeholders. Educational gaps and low awareness of rare diseases pose another significant challenge. The rarity of these conditions often leaves patients feeling isolated, with few opportunities to exchange experiences and gather support from others.
Locating healthcare professionals (HCPs) with expertise in a specific rare disease is also challenging, as reflected in the average time to a correct diagnosis (5–7 years).2 The digital age presents the perfect opportunity to connect patients to patients, HCPs to HCPs and patients to HCPs. We must leverage this connectivity in our communications and provide the right channels to support global collaboration.
For instance, it is unrealistic to expect a general practitioner (GP) to provide a definitive diagnosis during an initial visit. However, GPs do need practical guidance on recognising red flag symptoms that could raise suspicion of a rare disease, so they can successfully refer patients to specialists. Patients also require tailored education that can empower them to take control of their condition, presented in a clear, accessible manner without excessive jargon.
People, not statistics
By focusing on the people at the heart of this complex area of medicine, we can overcome its challenges.
At AMICULUM (a healthcare communications agency with specialist expertise in rare diseases), we are passionate about engaging with the rare disease community to deliver meaningful communications that drive real progress for those living with rare conditions.
References 1. Nguengang Wakap S et al. Eur J Hum Genet 2020;28:165–173.
2. Rare Disease Impact Report: Insights from patients and the medical community. Available at: https://globalgenes. org/wp-content/uploads/2013/04/ShireReport-1.pdf (accessed August 2024).
Inflation and rising public debt are creating barriers for the rare disease community to access the latest therapies.
WRITTEN BY Enrico Piccinini Head of Europe and International Rare Diseases, Chiesi Global Rare Diseases
This article has been written and funded by Chiesi Global Rare Diseases.
How the UK can address sickle cell disease care inequalities and funding shortages
September marks Sickle Cell Awareness Month, a critical time to reflect on the challenges faced by those living with sickle cell disease (SCD), a rare but devastating condition that predominantly affects Black communities.
WRITTEN BY
Jasmin Adebisi
Manager,
Despite being classified as a rare disease, SCD is relatively common within Black Afro-Caribbean populations, with approximately 15,000 people affected in the UK alone. The current policy landscape for SCD and other inherited disorders is fraught with challenges; and the existing parliamentary efforts, while commendable, have proved insufficient.
Action and policy reform on sickle cell disease
The recent ‘No One’s Listening’ report by the All-Party Parliamentary Group (APPG) on sickle cell and thalassaemia exposed significant shortcomings in the care provided to SCD patients; highlighting inadequate training
among healthcare professionals, a lack of investment in SCD services and low awareness of the disease. The NHS Race and Health Observatory’s Sickle Cell Digital Discovery report also identified the negative attitudes experienced by patients and the inconsistent quality of care during sickle cell crises.
Addressing blood donation shortages
The NHS recently announced a critical shortage of blood donations, particularly from Black donors, which has severe implications for SCD patients. Regular blood transfusions are often a lifeline for SCD patients, helping to prevent severe complications such as acute chest syndrome and organ damage.
Funding and investment disparity
The lack of funding and investment in SCD care and research has highlighted the broader health inequalities that exist in the UK’s healthcare system. The new Government’s pledge to reduce health disparities must translate into investment for treating illnesses such as SCD.
Policy recommendations for the Government
1. Comprehensive training for healthcare professionals: Mandatory training on SCD for all healthcare professionals is essential. This training should be integrated into medical and nursing education and be required for all practising clinicians.
2. Increased funding and investment: The Government must allocate additional resources to SCD research, treatment and care. This includes funding for specialist clinics, access to new and effective treatments and ongoing research into potential cures.
3. Standardised care across the NHS: The Government should ensure that all 42 Integrated Care Systems (ICS) across the UK commission SCD services, providing a uniformly high standard of care. This would eliminate the current postcode lottery, ensuring that all SCD patients receive the care they need, regardless of where they live.
Fighting for healthcare equity: rare disease medications in emerging markets
Despite ongoing advancements in medicine, many rare diseases remain under-researched and underserved, particularly in emerging markets where access to effective treatment options is not only challenging but often impossible.
Aglobal pharmaceutical company is partnering with innovative life-science companies to commercialise rare disease medicines in these challenging regions.
Improving access to essential medicine
Masters Speciality Pharma partners with innovative lifescience companies to commercialise life-saving medicines. Their mission is grounded in addressing the unmet needs of patients, by improving access to essential treatments.
Dr Zulf Masters, OBE, CEO and Founder, shares the origin of the company. “I spent many years working with healthcare professionals around Latin America. It became clear to me; patients had very little access to affordable treatments,” he says.
“There are over 7,000 rare diseases, but only around 750 available treatments despite ongoing research in rare diseases. We bridge the gap by ensuring these treatments reach those who need them, regardless of geographical or economic barriers.”
Overcoming rare disease challenges
make, there is a patient, either in hospital or at home, in pain, who needs to be treated. We need to be inclusive if we are to bridge the gap between medical advancements and the often-overlooked needs of those with rare diseases,” Masters continues.
“We have over 40 years of experience overcoming these challenges. Our team has the expertise needed to navigate these regulatory landscapes, negotiate health technology assessments and establish a reliable supply chain, ensuring continuous access to essential medicines in our end-to-end service.”
Empathy, perseverance and understanding the patient’s journey are key.
Facilitating access to medicines in emerging markets comes with a host of unique challenges; healthcare budgets for rare diseases are spent with caution, and these budgets can be very limited. The regulatory environment is constantly changing, and every country has its bureaucratic nuances.
“I always maintain that, at the end of every delivery we
Collaboration is key to success
The company’s success is rooted in its collaborative approach. Partnering with Masters gives you in-house regulatory, medical and pharmacovigilance, as well as sales, marketing and supply-chain expertise.
“Not just the patients, but their caregivers, doctors, nurses and relatives all have an appreciation for the value we provide in ensuring these patients have access to appropriate treatments,” explains Masters.
“Empathy, perseverance and understanding the patient’s journey are key. We are making strides in several disease areas including sickle cell disease and paroxysmal nocturnal haemoglobinuria (PNH). Our partners rely on our expertise to reach patients in the most challenging markets.”
Sharing the health decision lightens your load
Learn how physician and patient collaboration can ensure more positive healthcare outcomes.
WRITTEN BY
Luke Robinson VP, General Manager, UK, Ireland & Nordics & Head of Marketing, Europe, BioCryst Pharmaceuticals
Imagine having something as trivial as a haircut without agreeing what you want. Many of us jointly decide the outcome with our hairdresser and provide feedback as the cut progresses.
This form of shared decision-making (SDM) happens in many aspects of our lives across many different services. Yet, during important medical consultations about serious, potentially life-limiting conditions, two-way conversations may not even begin or could end with ‘See you in three months,’ as we feel unable to ask the ‘right’ questions or in some instances aren’t asked for our opinion.
Sharing health expectations
When it comes to our quality of life, conversation is even more important. Let’s look at hereditary angioedema (HAE), a rare genetic disease characterised by episodes of sudden and spontaneous severe swelling. Less than 33% of HAE patients discuss individual treatment plans during appointments,1 which suggests missed opportunities for their unique needs to be heard and met. This is despite international guidelines recommending all patients have, and regularly revisit,2 action plans with their healthcare providers.
Steps to sharing success
UK.BCX.00363 September 2024
support them in their goals.
This collaborative process leads patients to reframe the disease and think, ‘What do I want?’ It’s also a more rewarding dialogue for physicians and reminds them that, ultimately, it’s equally satisfying to help patients help themselves.
Social contracting
In this way, a social contract is established between the expert and recipient, whereby all expectations and processes are set. Medical professionals agree that the collaborative nature of this contract needs to be further emphasised. Dr Sorena Kiani, Consultant Immunologist at Royal Free London NHS Foundation Trust, says: “Shared decision making is a contract and agreement between me and my patient.”
As each patient is unique, so too are their treatment goals.
Dr Kiani expands on this in the HAE UK ‘Power of Partnership’ report, produced in collaboration with BioCryst. An in-depth look at what works and doesn’t, this report suggests practical resources to help start conversations. The HAE field is a dynamic, fast-changing space with increasing treatment options. Now is the time for more physicians and patients to begin exploring the shared possibilities together.
References
As each HAE patient is unique, so too are their treatment goals, ranging from a reduction in swellings to holding down a job or quite simply feeling they can step outside. The SDM process can enable patients to more confidently share personal aspirations, which in turn better enables physicians to use everything in their arsenal to advise and
How women are revolutionising rare disease
Women have played a crucial role in rare disease awareness and better care, overcoming gender biases and systemic challenges to drive progress in this often-overlooked field.
Historically, women have been marginalised with their needs often being unmet as compared with men — a situation mirrored to a greater degree in the rare disease sector as compared with common conditions. This field grapples both with gender disparities and the broader challenge of gaining recognition for rare diseases within healthcare systems.
Women leading rare disease advocacy
Women, who traditionally take on caregiving roles, have been at the forefront of rare disease advocacy.
Empathy and strong communication skills make them effective as both caregivers and advocates. These roles are often assumed out of necessity when they notice symptoms in their children — a common situation as 70% of rare diseases first present in childhood.1 Women utilise various
1. HAE UK. The Power of Partnership: Shared Decision Making in HAE. Available at: https:// www.haeuk.org/power-of-partnership/. Last accessed: September 2024
2. Maurer M, Magerl M, Betschel S, et al. The international WAO/EAACI guideline for the management of hereditary angioedema-The 2021 revision and update. Allergy. 2022;77(7):1961-1990.
approaches to raise awareness, from ‘kitchen table’ support groups to larger awareness campaigns to lobbying governments.
Female struggles in rare disease diagnosis
The diagnostic journey for rare diseases is notably lengthy, often taking four to eight years or more.2 Women face additional delays due to gender biases in the healthcare system, with symptoms often being unrecognised or misattributed to psychological issues. They frequently encounter dismissive attitudes from clinicians, longer diagnostic journeys compared to men and poor socioeconomic support, resulting in substantial psychological, social and financial burdens.
Industry challenges women encounter Women’s lived experiences and the challenges they face in caregiving
roles empower them to be empathetic and effective leaders in the rare disease space. Their advocacy has led to increased awareness and funding for rare disease coordination and drug development. However, across industries, including the pharmaceutical industry, leadership roles are predominantly occupied by men. Women in this field often struggle to advocate for themselves and achieve recognition. This is problematic since only with leadership diversity can we ensure comprehensive decision-making that reflects the population’s needs.
Empowerment through education
With the efforts of advocates, clinicians are increasingly aware of the rare diseases they may encounter. However, they continue to struggle with recognising when a patient may have a rare disease; which diagnostic tests to run; where to refer them; and how best to treat them.
Medscape, a global leader in medical news, references and education, is tackling this issue by providing the largest collection of accredited rare disease education — free for clinicians — in collaboration with rare disease societies, advocates and key opinion leaders. This educational resource centre, Pathways in Rare Disease, was designed based on feedback from almost 1,000 clinicians across 16 different specialities.3
Nguengang Wakap S, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165-173. 2. The Lancet Global Health. The landscape for rare diseases in 2024. Lancet Glob Health. 2024;12:e341. 3. Rohani-Montez SC, et al. Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey. Genetics in Medicine Open. 2023;1: 100808.
Simplifying development of next-generation rare disease therapies
Rare diseases are individually rare but collectively common. About 80% of rare diseases are genetic and hard to treat.
Rare diseases are hard to treat due to the human genome’s complexity. This complexity results in the development of diverse, disease-causing mutations. Consequently, traditional approaches to drug development become expensive and ineffective.
Exploiting new genomics advances
Genomics advances mean patients can be screened to determine whether they carry disease-causing variants in their genome.
In parallel, the biotechnology industry has developed new treatments using antibodies, such as Antibody-drug conjugates (ADCs), that can target specific diseased cells.
This has led to new classes of precision cancer treatments, some of which are now first-line treatments in metastatic breast cancer. It’s time to start exploiting these precision approaches to address rare diseases.
Creating targeted therapies for DM1
Myotonic Dystrophy Type 1 (DM1) is a type of muscular dystrophy that brings about progressive muscle loss and weakness and is caused by a mutation in the DMPK gene. Affecting 1 in 2,100, it is diagnosed through genetic testing, including at the prenatal stage. It has no cure and is managed through mobility aids and pain relief.
Today, researchers are developing new drugs that address the genetic basis of DM1, intending to halt and, hopefully, reverse progression. These therapies are based on short strands of DNA or RNA called oligonucleotides. They interact directly with the faulty machinery within a cell to enable it to operate correctly. The challenge is how to deliver these oligonucleotides into the affected cells in the body.
Power of antibody oligonucleotide conjugates
Researchers have found ways to tap into existing proven targeting technologies used in other successful antibody therapies. By tethering the targeting antibody to the active oligonucleotide, thus creating ‘Antibody Oligonucleotide Conjugates’ (AOCs). For DM1, these AOCs search out the diseased muscle cells, enter the cell nucleus (its brain) and neutralise the effect of the mutant DMPK gene.
Clinical trials have demonstrated that AOCs induce the required gene regulation, are safe and produce functional improvements in DM1 patients. Using an AOC approach, off-the-shelf components can be assembled to create complex precision medicines, offering potentially more cost-effective treatments for rare disease patients.
Customising medicines for people with rare conditions holds enormous promise.
~Dr Ellen Thomas Chief Medical Officer, Genomics England