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“Timely treatment can mean the difference between a healthy life and the irreversible progression of a condition, particularly where treatments are available.”

“The patient voice cannot be overlooked, and patients can’t be engaged on a transactional basis. To make real headway in rare disease treatment, we must work together.”

Nick Meade, Director of Policy, Genetic Alliance UK

Charlene Son Rigby, CEO, Global Genes

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Optimising patient experience: the power of patient concierge services Investing in patient concierge services improves recruitment and retention rates, leading to more efficient clinical trials.

ndividuals dealing with chronic diseases are often eager to participate in clinical trials to find an effective treatment for themselves and others affected. This is especially true in rare diseases, where such trials might represent the sole avenue for treatment. Issues prompt need for patient concierge While trial efficiency has steadily improved over the last decade, patient recruitment, engagement and retention continue to be pressing issues for pharmaceutical sponsors and contract research organisations (CROs) managing studies. Research shows that nearly 80% of clinical trials fail to finish on schedule, with 20% delayed six months or more. More than two-thirds of trial sites fail to meet targeted patient enrolment quotas while 85% of studies cannot retain enough patients through to completion. Challenges in patient experience Designing and managing a clinical trial is a highly complex process for all study stakeholders. While site staff and researchers concentrate on medical and scientific aspects, patients and caregivers are often burdened with handling the logistics of trial participation all on their own. These tasks include researching; booking flights, hotels and transportation; managing reimbursement procedures; and arranging temporary relocations near the clinical site. Handling these tasks, in addition to undergoing experimental treatment, can be stressful, emotionally overwhelming, and extremely costly.

Newborn genomes research study should answer important questions The Newborn Genomes Programme will detect rare conditions earlier and find helpful ways to move forward. The first UK baby to be screened using genome sequencing at birth will be born in 2024.

WRITTEN BY Nick Meade Director of Policy, Genetic Alliance UK

Boundaries of the newborn genomes study NHS care pathways for suspected conditions to be followed swiftly by confirmatory tests will be designed in collaboration with parents and healthcare professionals. Genomic data for each baby will be stored for research, with their parent’s consent. Privacy measures will be in place, ensuring responsible data use. The potential of lifelong genomic records will be explored, allowing reanalysis and access to cutting-edge developments throughout participants’ lives. The bottom line for rare condition support organisations is that around 1,000 babies are expected to be identified at birth with actionable conditions through the study — most of which might not have been identified so quickly without it.

How to reduce barriers to trial participation Many study sponsors and CROs turn to patient concierge service companies like Clincierge to combat the emotional, financial, and logistical barriers to participation. Much like a hotel concierge, a patient concierge manages all logistics of study participation. These services include itinerary planning, visa and passport assistance and quick reimbursements for incidental expenses incurred throughout a study. The patient establishes a personal rapport with their patient concierge, who speaks their language and understands the nuances of their experiences and the region where their trial occurs. By reducing the barriers that hinder patients’ willingness to participate and remain in a trial, study sponsors and CROs improve the overall patient experience and bring life-enhancing therapies to market faster, shaping the future of healthcare.

WRITTEN BY Scott Gray Chief Executive Officer, Clincierge

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enomics England’s Newborn Genomes Programme is a research study, which proposes to sequence and analyse the genes of 100,000 babies. It explores the possibility of providing early diagnosis for a range of rare genetic conditions that affect babies’ early years.

Potential benefits for rare conditions Timely treatment can mean the difference between a healthy life and the irreversible progression of a condition, particularly where treatments are available. The definition of ‘actionable’ can be broad;

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for example, parents of babies with fragile bones can be taught ways to handle their newborn baby as safely as possible. Parents of babies identified with a potential condition will be given the information they need to understand their baby’s future. Questions and risks of the study Genomics England found public support for this project following a rigorous engagement exercise, and only a comprehensive piece of work will maintain this. How should we handle unpredictable conditions? Do we understand the genomes of the diverse UK population enough to be equitable? Would genomic screening be a good use of NHS resources, or would it be better to invest in conventional newborn ‘bloodspot’ tests? These are fascinating and important questions — the best way to answer them is to push ahead and learn. Opportunity to treat rare conditions sooner Rare condition support organisations want progress in screening; UK adoption of the conventional screening approach is behind more than 20 European countries. This research study could be our opportunity to find more babies with rare conditions sooner to help them and their families.

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Partnering with patients on their rare disease journey

patients and represent their needs in the pharmaceutical sector more effectively.”

As more rare diseases are diagnosed, it’s becoming vital for patients and their families to receive guidance and advocacy in their search for effective treatments.

R INTERVIEW WITH Jonathan Whitton Senior Medical Director, Bionical Emas WRITTEN BY James Martin

are diseases are defined as affecting less than 1 in 2,000 people in the UK. Due to advances in diagnostics, there are more rare diseases being discovered every day. This presents a challenge for patients and their families, who are seeking the best medical care possible. Giving people living with rare diseases a voice As a former paediatric surgical registrar and Senior Medical Director at Bionical Emas, Dr Jonathan Whitton and his colleagues can understand the challenges facing people living with a rare disease and their families, and the need to partner with them on their journey, towards effective therapies.

“In many ways, a person living with a rare disease has the deck stacked against them,” he explains. “They are often diagnosed late, due to unfamiliarity of healthcare professionals with rare diseases and more common diseases being ruled out first, or their concerns being dismissed. The frequency of rare diseases leads to further isolation, meaning patients and their families can’t always reach others to discuss their conditions and learn about the latest therapies available.” “Our medical affairs team include rare disease patient advocacy specialists who have either worked with people living with rare diseases or have a family member diagnosed with a rare disease. This support framework and expertise allows us to partner with

From lab to clinic: what charities are doing to power rare disease progress Charities play a vital role in attracting investment towards rare diseases and supporting research that might not otherwise make it to the clinic.

T WRITTEN BY Dr Catriona Crombie Head of Rare Diseases, LifeArc

he rare disease community has long been underserved, with many people struggling to receive the diagnosis and treatment they desperately need. Finding collaboration, funding and the right support are all hurdles for researchers to overcome in bringing innovations from the lab to the clinic. This is where charities and not-forprofits have a vital role to play. How charities encourage investment in rare disease While exciting progress has been made in rare disease research, investing in rare conditions — especially ultra-rare conditions — can carry more risk for commercial companies than common conditions.

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However, charities have been stepping in and partnering with industry to help progress these innovations towards patients. They can fund early-stage work to help reduce the risk and provide resources and advice to get medicines or new ways to diagnose a rare disease through trickier parts of their journeys. This can make it easier and more appealing for investment from industry partners. Moving research from the lab into medical breakthroughs Access to new tests and treatments through clinical research is crucial for individuals living with rare diseases. Many times, though, research gets stuck between the lab and the next

Improving patient quality of life and drug development Bionical Emas combines clinical development, early access programmes and clinical trial supply to bring life-changing medicines to patients around the world. Their vision is to maximise access and evidence generation across the entire clinical development pathway, positively impacting current and future patients. As advocates for rare diseases, they liaise with pharmaceutical companies, regulatory bodies and clinical healthcare authorities. Dr Whitton explains: “Clinical development plans need to consider the whole patient journey, the overall burden faced by people living with the rare condition and how this impacts societal contribution to healthcare economics. For example, treating the patient may mean they are less likely to require hospitalisation as a child and can gain more from the education systems that they are a part of.” By partnering with the patient at the beginning of the clinical development process, Bionical Emas aims to provide the effective representation of the patient to both the healthcare professionals and the pharmaceutical companies to enable this and benefit both the speed and quality of drug development.

phase of development due to a lack of investment, resources or knowledge. This ‘translation’ of science from the lab into results that benefit patients is the key to unlocking innovations. Some medical charities are targeting their efforts in this space, despite its tricky and (at times) risky nature. They help provide funding, identify the commercial potential of research and assist with the things a commercial company might not: early-stage development; advice on licensing; collaboration; intellectual property protection; and more.

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Advocating for the bigger picture in rare disease Addressing the challenges faced by the rare disease community requires not just research but policy change, coordinated investment, collaboration and education. Charities and the UK Government are working to build a nationwide ecosystem of researchers and partners to do just that. They can also use their neutrality to bring different parties (with different interests and needs) together for a common aim. This can help influence business models and solutions that might not have been found otherwise. There is no such thing as a disease too rare for investment. By driving innovations from the lab to the clinic, charities are helping to ensure that no rare disease goes unnoticed or untreated.

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Network of support services for families faced with mitochondrial disease Mitochondrial disease is extremely rare and life-changing. Thanks to dedicated patient advocacy and growing research, patients have reason for hope.

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hen a person receives a shock diagnosis, it challenges not only their own coping mechanisms but their whole family’s resilience. When the disease is rare, and not yet properly understood by medical science, it is more traumatic still.

INTERVIEW WITH Katie Waller Science and Patient Engagement Officer, The Lily Foundation

WRITTEN BY James Martin

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Supporting people diagnosed with mitochondrial disease The Lily Foundation was founded in 2007 by Liz Curtis in memory of her daughter Lily, who died from mitochondrial disease at eight months old. Finding little in the way of specialist knowledge or support available to help her through her ordeal, Liz set out to provide answers for herself and others in her situation. What began as an informal network of family and friends quickly grew into a national charity, which today supports over 1,200 families.

Advantages of the patient community She adds that: “The Foundation’s role in bridging this gap has been huge. By building a patient community, we can give families the information they need to understand the disease.” Their specialised support services provide ongoing support to patients and families, including creating family and patient events. They are also set to appoint a care advisor to signpost people to medical services, a welfare and benefits advisor, plus psychological support services. They are the largest charitable funder of the disease in Europe with £3 million donated to research diagnostics and treatment.

Unmet clinical need in mitochondrial disease One of the biggest frustrations of families is the ‘We don’t know what this is’ aspect of the disease, explains Katie Waller, the Science and Patient Engagement Officer at The Lily Foundation. “Yet, 1 in 5,000 births will develop a life-threatening form of mitochondrial disease.” Expanding research channels Mitochondrial disease refers to a group of disorders With no known treatments and symptoms often that affect the mitochondria, which are tiny hard to pin down, international research is critical compartments present in almost to obtaining the best medical every cell of the body. There support for patients. “This are currently over 350 known allows us to pool our resources Specialised support genes that can be involved in with researchers across Europe services provide ongoing and further afield,” explains mitochondrial disease, with new variants continuing to Waller. The Foundation is part of support to patients be discovered. Some types a network of clinicians, industry and families, including of mitochondrial disease — partners and patient groups TK2d, for example — are well developing natural history data creating family and understood. However, types with so that laboratory testing for patient events. less straightforward and varied potential treatments for Leigh symptoms are still being studied, Syndrome can take place. leaving patients with undefined The Lily Foundation also sits clinical courses. on GENOMIT, which is a global network of national centres working closely with patient organisations Mitochondrial disease in children and adults to improve the care of patients with mitochondrial “It can affect anyone at any age, but often, there disease worldwide. Research such as this — as well as is an acute presentation in children, leading to dedicated centres of excellence in London, Oxford, them going into paediatric intensive care. This can Newcastle and Cambridge — give patients and mean a faster track to diagnosis,” explains Waller. families hope for the future. In contrast, an adult patient may wait several years Waller concludes: “The connection that patients for a diagnosis because they might present with have with researchers makes a huge difference. When other conditions like deafness or diabetes. “Often, we bring researchers to our annual family weekend, nobody puts the pieces together, which is down to they often say, ‘I’m no longer just working with blood a lack of awareness in community medicine. It’s samples but for the families to have better outcomes heartbreaking to hear of patients being bounced in the future.’” between different medical departments,” says Waller. READ MORE AT HEALTHAWARENESS.CO.UK

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How far are we from being able to treat mitochondrial disorders? Mitochondrial disorders are a group of rare diseases that affect 1 in 5,000 live births. They can present at any age and have a drastic impact on any organ and tissue.

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itochondria — which provide ‘the battery charge’ for practically every cell in our bodies — are vital for our survival. “They are the powerhouse responsible for converting nutrients into energy,” explains Dr Caterina Garone, Associate Professor Medical Genetics, Department of Medical and Surgical Sciences. “When mitochondria are not working properly, it’s as though a light in the affected organs and tissues has been turned off.”

diseases, mitochondrial disorders can be difficult to diagnose,” says Dr Garone. “Patients can present with weakness, delay in acquiring or loss of motor milestones, seizure, cardiomyopathy, liver dysfunctions, kidney failure, anaemia and gastrointestinal symptoms.” If a mitochondrial disorder is suspected, patients will undergo clinical observation, metabolic tests and an analysis of muscle biopsy. However, a definitive diagnosis is obtained by genetic testing.

Inherited and unpredictable mitochondrial disorders While mitochondrial disorders are extremely rare — affecting just 1 in 5,000 live births — they can be devastating and, in some cases, life-threatening. Caused by genetic mutations, they are either inherited from the mother when a defect is in the mitochondrial DNA or inherited from both parents when the defect is in the nuclear DNA. Onset occurs at any age and can be found in any part of the body — from the brain, nerves, pancreas and heart to kidneys, liver, muscles, eyes and ears. These disorders are also unpredictable and may affect just one tissue or organ, or multiple tissues and organs. They are currently incurable.

Studying mitochondrial depletion syndrome Several novel therapies for mitochondrial disorders are currently undergoing research studies, but very few are reaching patients with clinical trials. Nevertheless, Dr Garone believes that the treatment landscape is changing. For example, her clinical and research lab focuses on a subgroup of disorders called mitochondrial depletion syndrome, where cells lack multiple copies of mitochondrial DNA, causing severe dysfunction of the enzymes responsible for energy production. Dr Garone has specifically worked on a disease called thymidine kinase 2 (TK2) deficiency, which, in infants, can lead to early death. If onset begins in childhood, it can result in severe weakness and loss of acquired milestones while onset in adults can result in milder symptoms. “Thymidine kinase 2 is likely to be an underestimated condition because the spectrum of the disease is so varied

Getting a diagnosis of mitochondrial disorder Even diagnosis is a challenge. “Unfortunately, because symptoms are so varied and similar to other

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and clinical symptoms can mimic other neuromuscular disorders,” she explains. Cutting-edge research opens up opportunities for new treatments Still, there is hope. Through disease models and clinical trials, Dr Garone has demonstrated that a therapy known as nucleoside supplementation therapy can be effective in preventing TK2 disease progression during clinical trials. “When the treatment is started early in life, it can prevent the manifestations of symptoms,” she says. “An early diagnosis, even with a neonatal screening, is important to immediately start the treatment and cure patients.” There is a regulatory hurdle to clear: nucleoside treatment is waiting for FDA approval and is currently only available under controlled clinical trials or earlyaccess compassionate use. “The main barrier is moving treatment from bench to bedside,” agrees Dr Garone. “For example, gene therapy for mitochondrial disorders is an exciting research area, although, additional studies are needed before translation to humans. However, finding funding for a clinical trial in the rare disease space can be challenging because only a small number of patients are affected. Yet, these patients have devastating, lifethreatening conditions that need to be treated. I believe that, in the next five years, several new molecules will become available, and these will make a difference.”

INTERVIEW WITH Caterina Garone MD, PhD, Associate Professor Medical Genetics, Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna; Child Neurology Consultant, IRCCS Institute of Neurological Sciences, Child Neuropsychiatry Unit, Bologna, Italy

WRITTEN BY Tony Greenway

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Challenges in rare disease treatment approval — and how to solve them Securing funding approval for a rare disease treatment can pose unique challenges. Andrew Mumford, head of an agency supporting pharmaceutical companies throughout this process, discusses these issues and how to address them. What are the main challenges in gaining approval for rare disease treatments? Rare disease treatments often have an ‘evidence gap,’ where the small population of patients means there is scarce data or evidence regarding a drug’s safety and efficacy. This poses unique challenges to making informed decisions on whether or not to approve a drug and may force pharmaceutical companies and regulatory agencies to compromise on their preferred processes and outcomes. What consequences does this evidence gap pose for patients? Delays to drug approval greatly impact patients waiting for treatment access. This is a particularly acute issue in the rare disease space, as many of these diseases are life-limiting and have no approved therapeutic options. What specific evidence gaps are there in the rare disease space? Although the evidence gap is a problem for all aspects of the approval process, it is especially troublesome when it comes to economic data. Rare disease treatments are typically expensive due to research, development, and manufacturing costs. Additionally, data on their costs to the healthcare system and long-term impact on patient quality of life is often sparse. Consequently, demonstrating a drug’s cost-effectiveness can be difficult, and healthcare systems may be reluctant to ‘reimburse’ (pay for) them. How important is collaboration to gaining treatment approval? The perspectives of patients and their families shed light on unmet needs and can help to impress the urgency of a drug’s availability. As such, pharmaceutical companies’ collaboration with patient groups, as well as with healthcare providers, policymakers and specialist agencies, is crucial to the approval process. What does the future look like for rare disease treatments? The pharmaceutical community is investing more time and money into solving evidence-related issues. Advancements in precision medicine, gene therapies, AI and real-time data collection will help fill the evidence gap. However, it is only by collaborating with stakeholders and expert solution-finders that optimal outcomes can be achieved for rare disease patients. INTERVIEW WITH Andrew Mumford Chief Executive Officer, Initiate Consultancy Limited

How patients and communities can help in rare disease treatment development The patient voice cannot be overlooked, and patients can’t be engaged on a transactional basis. To make real headway in rare disease treatment, we must work together — patients and caregivers, advocacy groups, government, researchers and industry.

or rare disease treatment to progress, patients should be brought into the drug development process as early as possible. Patient-centricity is about patients and advocates being at the table as meaningful partners and being official stakeholders for the success of drug research. Patient role in rare disease treatment pathway Global Genes has divided its services into three pillars: support; education; research and development, which focuses on research and data enablement, with platform services to support these critical efforts. Within the research and development pillar, the RARE-X data collection programme enables rare patient communities to collect robust, secure, patient-reported data that is patient-owned and makes that data widely available for research. Patient-centricity is a key component of this programme, which now includes over 80 patient communities and greater than 4,000 participants collecting and sharing data through the platform. Collaborative roadmap for rare diseases Patients interested in being part of the research and innovation to help find treatments and therapies for their conditions may also see themselves traversing the RARE Disease Research Roadmap. The roadmap is a comprehensive resource to support advocates to drive research and to work effectively with researchers and industry partners. It was generated from work at last year’s RARE Drug Development Symposium. Patient participation in research There has never been more opportunity for patient advocates to get started with new therapies and treatments in the research readiness realm. To support this need, Global Genes introduced a research readiness framework earlier this year that will be one of the tracks at the RARE Advocacy Summit in September. In short, engagement with the patient communities has evolved, and the opportunity for patients to engage with industry and academic researchers in critical collaborations to create shared benefits has never been greater. Patients are now at the centre of the vital ecosystem that includes shared responsibilities with all stakeholders, including advocates, researchers and industry.

Tackling rare diseases: Wilson disease patient and millions more like her need help Rare diseases individually don’t affect large numbers. For example, Wilson disease affects 1 in 30,000 people worldwide — but, together, rare diseases impact millions.

ver the years, I’ve been deeply moved by the stories of many patients, but one particularly stands out. A woman talked about her teenage daughter’s Wilson disease — a rare genetic disorder characterised by over-accumulation of copper. Progression of Wilson disease Initially misdiagnosed as a mental health disorder, her condition worsened year by year. By the time her disease was correctly identified, she was wheelchair-bound. Her story is a stark reminder of the challenges faced by too many individuals with rare diseases. Challenges for patients and families The healthcare industry’s focus has historically been on prevalent diseases. The US National Institutes of Health (NIH) reports that there are over 7,000 rare diseases globally, with many lacking effective treatments. Many rare diseases are still neglected, under-diagnosed and poorly understood. They pose significant challenges to affected individuals and their families. They can profoundly affect various aspects of family dynamics, emotional wellbeing, financial stability and social interactions. Research challenges and progress Fortunately, progress is being made. Collaborations are emerging between researchers, pharmaceutical companies and patient advocacy groups. Biogen’s recent acquisition of rare disease company Reata is one example of this new focus, and it is encouraging to see major players in biotech and pharma recognise the value of rare disease research. Challenges include limited funding, smaller patient cohorts and the complexity of the disorders. Yet, with collective expertise and determination, we are beginning to see breakthroughs. Innovation in genomics and sophisticated diagnostic techniques are beginning to offer more precise diagnoses, paving the way for personalised treatments. Advances in gene and cell therapies are increasingly directed towards the unmet need of rare diseases. Driven by human centricity Above all, raising awareness of these illnesses and their small patient populations is helping to galvanise the research, medical and pharma communities into action. Behind every statistic is a person; a family; a story. This drives the passion of all who work in rare disease, including the Orphalan team. Rare disease research matters because every patient matters, irrespective of the prevalence of their illness.

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Naseem Amin CEO, Orphalan

WRITTEN BY James Martin WRITTEN BY

Charlene Son Rigby CEO, Global Genes

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Ways to apply digital and technological solutions to benefit people with rare diseases Pursuing solutions and not settling for the status quo is the manuscript being written, and wielding the pen is a pharmaceutical company inspired by innovation.

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anofi’s ambition to become the first artificial intelligence (AI) driven global pharmaceutical company marks the next chapter in its commitment to healthcare professionals and patients.

WRITTEN BY Michael Damiano Head of Rare Diseases UK and Ireland, Sanofi

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MAT-XU-2303875 (v2.0) September 2023

Their platform, MendelScan, uses AI to identify patterns of symptoms that could suggest a rare disease. “By learning from the specific expertise of different stakeholder groups, innovation across the industry can flourish. To put it succinctly, a rising tide lifts all boats,” Damiano shares.

AI and digital solutions in rare diseases With an aim to ensure technological ambition is matched Enhancing care by tangible output, Silvia Cerolini, Head of Innovation in The intersection between life sciences and innovation is Specialty Care at Sanofi UK, explains: “In the UK, we’re increasingly recognised as a catalyst for improving the building a blueprint to enable a life sciences ecosystem patient experience. Further progress, Damiano identifies, that best supports those impacted by a rare disease. By “requires observing the patient journey with a holistic leveraging ever-evolving technologies, we can overcome mindset, as efforts to improve early diagnosis will prove hurdles currently presenting in the futile if the subsequent access to treatment diagnostic journey and unlock benefits for is ineffective.” By learning from the all patients.” In fact, for every 100 patients that get a new medicine in its first year of launch specific expertise of Accelerating diagnosis with data and AI in EU countries, just 21 patients in the different stakeholder UK will.4 Helping to develop a more As it stands, there are no commonplace methods for measuring the diagnostic harmonious pathway for patients requires groups, innovation odyssey, defined as ‘the time between the collaboration of industry partners and across the industry symptoms first presenting and people patients, with a focus on monitoring and receiving a definitive diagnosis.’1 However, data collection. can flourish. research has found that more than a third of people living with a rare condition will Commitment to the rare disease journey wait over five years to receive a diagnosis.2 “Our journey is steeped in steadfast commitment, helping Cerolini raises the importance of supporting healthcare to facilitate early diagnosis and improved access to professionals (HCPs) by lightening their diagnostic burden treatment. This legacy is an accomplishment we are deeply through proactive programmes. Cerolini welcomes proud to hold,” explains Damiano. “But, as with most great collaborative efforts to accelerate diagnosis for patients with legacies, it continues to be written.” rare diseases by using data as a conduit to help identify those References at risk. “By using expert input, this technology can be refined Department of Health & Social Care. England Rare Diseases to help more people receive a timely diagnosis which, in turn, 1. Action Plan 2023: main report; February 2023. Available at: https://www.gov.uk/government/ publications/england-rare-diseases-action-plan-2023/england-rare-diseases-action-plancan prompt early intervention and better patient outcomes,” 2023-main-report. she explains. 2. Genetic Alliance. Good Diagnosis: Improving the experiences of diagnosis for people Collaboration and partnerships “Working alongside like-minded organisations is important for enacting a culture of curiosity,” Michael Damiano, Head of Rare Diseases UK and Ireland at Sanofi, outlines. Mendelian is a pioneer within the AI sector, recently being awarded an NHS ‘AI in Health and Care Award.’3

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with rare conditions; February 2022. Available at: https://geneticalliance.org.uk/wp-content/ uploads/2022/02/Rare-Disease-UK-Good-Diagnosis-Report-2022-Final.pdf. 3. NHS England. AI in Health and Care Award winners; March 2023. Available at: https:// transform.england.nhs.uk/ai-lab/ai-lab-programmes/ai-health-and-care-award/ai-healthand-care-award-winners/. 4.Association of British Pharmaceutical Industry. Improving Access to Medicines in the UK; November 2021. Available at: https://www.abpi.org.uk/value-and-access/uk-medicinepricing/improving-access-to-medicines-in-the-uk/.

WRITTEN BY Silvia Cerolini Head of Innovation in Specialty Care UK and Ireland, Sanofi

Find out more at sanofi.co.uk

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Individualised medicines offer hope for children with a rare disease A commercially viable pathway for individualised medicines could make treatments accessible to rare disease patients.

hat started as a race against time for my daughter Mila, diagnosed at six with a rare, fatal condition, has turned into a movement to make individualised medicines a routine way of treating genetic diseases. Instead of one drug for tens of thousands, Mila’s story points to a future of tens of thousands of drugs for just one or a few. This offers an impactful solution for millions of children with rare and life-threatening genetic diseases and no effective treatments. Science is no longer the barrier to individualised medicine Today, we have the technology to find the underlying genetic cause of a patient’s disease and design a medicine to target it. Recent advancements in genomics are enabling earlier diagnosis and allowing maturing modalities like antisense oligonucleotides (ASOs), siRNA and other RNA therapeutics to precisely correct distinct mutations. A recent publication in the scientific journal ‘Nature’ by Dr Timothy Yu, pioneering designer of Mila’s medicine, indicates that individualised ASOs could potentially correct mutations in approximately 15% of children with ataxia-telangiectasia. If a similar statistic applies across genetic diseases and other programmable modalities come online, millions could benefit from this approach. Despite these promising advancements, a clear, rapid and affordable pathway for this new paradigm is missing. Current regulatory requirements are disproportionately cumbersome and solely academic-focused, disincentivising companies from entering this field. It takes highly motivated families, clinicians and organisations with the ability to raise substantial philanthropic funds to develop these treatments — neither scalable nor sustainable. Building a commercially viable pathway To bring effective individualised medicines to rare disease patients at scale, we need investment. This was the motivation behind starting the US-based biotech, EveryONE Medicines. Like Novartis, which spearheaded the CAR-T industry, it will take one company to prove this model commercially viable to open up the field. With aligned regulators, health officials, clinicians and payers, we can build the infrastructure to ensure all children like Mila have rapid access to transformative medicines. The question is: will we?

WRITTEN BY

Julia Vitarello Mila’s Mum and Co-Founder, EveryONE Medicines

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Newborn screening: how can it improve our population’s health outcomes?

With around 72% of rare diseases being of genetic origin and 70% exclusively affecting children, newborn screening offers invaluable benefits. It can revolutionise healthcare outcomes for newborns and families continent-wide.

ewborn screening comprises physical exams, hearing tests and drawing a few drops of blood to detect conditions at birth. It allows for the early identification and treatment of severe and rare diseases, promoting better health outcomes. Despite this, health systems across Europe vary in their embrace of newborn screening, with many diagnostic opportunities missed. Countries screen for differing numbers of conditions, often limited to treatable conditions with established medical treatments.

traditional sequencing methods. The use of this technology in newborn screening is currently being explored and shows potential to massively expand the number of diseases for which we can screen. To support these advances and shorten protracted diagnostic journeys for rare disease patients, EURORDIS is backing the Screen4Care project, which is aiming to speed up diagnoses through digital solutions like predictive algorithms.

How policymakers can enable newborn screening access National health systems However, enabling widespread UK and Europe in newborn access to the transformative should extend their screening potential of newborn screening focus beyond treatable The UK, although a global leader — within and beyond the in genomics research, screens EU — requires structured conditions and start for only nine rare conditions.1 collaboration among nations. appreciating the need This figure may be higher Last October, over 20 EU than for Romania and Cyprus, countries pledged support for for swift diagnoses of which screen for as few as two initiatives promoting equitable ‘actionable’ ones. conditions,2 but the UK is far access to newborn screening behind most countries, such as programmes, following a call Italy, which screens for over 40.3 to action by the Czech Republic during their EU Diagnosing conditions as early as possible optimises Council Presidency. We now need policymakers one’s lifelong healthcare, irrespective of whether that across Europe to turn their commitments into condition is treatable. National health systems should action. extend their focus beyond treatable conditions and References start appreciating the need for swift diagnoses of 1. https://www.nhs.uk/conditions/baby/newborn-screening/overview/ 2. https://www.technologynetworks.com/diagnostics/blog/a-landscape‘actionable’ ones. assessment-of-newborn-screening-in-europe-359964 These conditions may lack a cure but can be 3. https://www.technologynetworks.com/diagnostics/news/what-happenedmanaged effectively through available interventions. when-a-whole-state-was-offered-genetic-screening-for-free-376865 Earlier detection thanks to newborn screening can prevent emergencies, aid family planning and facilitate access to support networks. Health technologies that can speed up diagnosis It’s time for health policy to catch up with health technology. Next-generation sequencing, for example, is a technology allowing scientists to analyse DNA more quickly and cost-effectively than

WRITTEN BY Gulcin Gumus Research and Policy Senior Manager, EURORDIS - Rare Diseases Europe

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Earlier detection thanks to newborn screening can prevent emergencies, aid family planning and facilitate access to support networks.

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Partnering with the rare community to co-create training opportunities Often, the routes to access support for people in the rare disease community are patient advocacy groups, charities and patient organisations. However, these organisations may lack knowledge of healthcare, industry and medicines access.

aving delivered frontline healthcare for patients in the NHS, I’ve experienced, firsthand, the difficulties faced by the rare disease community as people try to navigate access to diagnosis, medicines, early access programmes and clinical trials. Patients missing out on treatment and information To effectively navigate potential access to treatment routes, patient organisations require up-to-date knowledge on various areas of medicine access. Traditionally, this navigation and signposting of information would be led by the doctors and nurses when consulting with a patient. Without a national health service medical speciality that exists to provide expertise in rare diseases, people can embark on a medical speciality ping pong for years, resulting in an uncertain diagnostic odyssey and potentially missing out on accessing medicines through early access programmes and clinical trials. Training programme for patient groups Clinigen is dedicated to serving patient communities through early access programmes, clinical trial medicine supply and sourcing of hard-to-reach medicines. However, it became apparent that in order to gain a comprehensive understanding of the challenges faced by the rare community and to deliver effective programmes to our pharmaceutical and biotech clients, we would need to establish a commitment to partnership with the rare community. This partnership would provide a training programme to upskill patient groups in areas where educational needs remain unmet. That is why Clinigen is launching Navigate, a patient organisation education programme, which will start with a research questionnaire to better understand what people in the rare community and patient groups need to know to be able to navigate towards early access, medicines development and government authorities assessing the cost-effectiveness of medicines. The training programme will be co-designed with RARE Revolution, Flutters and Strutters and CRD Consulting Ltd, which represent the voice of the rare community. With this education programme, the rare disease community can better access the solutions they need. If you are part of the rare community, please take part in our research at navigateresearch.co.uk

WRITTEN BY Dr Lorna Pender Global Patient Engagement Lead, Clinigen

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Rare disease patient organisations: how to help them drive change Patient organisations are formed by, and for, people whose lives are directly affected by a specific condition. However, with rare diseases, progress may be more challenging.

hange happens when those affected by a common challenge come together to make a difference. Shared experience unites people, driving them to solve complex problems. But, when it is hard to find another person affected by your rare disease, how do you change your future?

to collect data and to represent the views of their community. Right now, pharma is one of the few sources of funding for this work. Although, as highlighted in a recent Observer article, such funding can raise concerns about independence. I feel that such complexities are, generally, well-managed by industry and patient groups alike. However, there is a need to fundamentally rethink the resourcing of rare disease patient organisations.

Challenges in rare disease patient groups Patient organisations are the only real answer — groups that aim to connect people with shared experience and to drive change. Despite the lack of Of course, rarity makes it a huge Solutions to help patient organisations time, knowledge challenge to start these groups. Finding Either we invest in such patient a person with the time, knowledge and organisations through the Government and money, energy required is the first hurdle. or pool pharma funding to be they completely From there, a whole range of complex, distributed, independent of drug transform their competing demands fall upon them: development interest. Both approaches rare condition . How do they help those affected? How would give small, rare disease patient do they change NHS services? How groups access to long-term, sustainable do they ensure a new drug reaches funding — independent of industry patients? And, of course, how do they get the work interest. Such a funding change needs coordinated done? Rare disease patient groups are fundamentally action across the sector. We hope that you can help resource-poor. Most are voluntary, running on the us drive this change. spare time of a few committed people and whatever donations and small grants they can find. Support that patient groups need Despite the lack of time, knowledge and money, they completely transform their rare condition — driving the development of new care pathways, better diagnoses and even new treatments. What patient groups need is more resources to build their operation and knowledge base. They need staff

WRITTEN BY Dr Rick Thompson CEO, Beacon

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Very rare but treatable: how to reach people with paroxysmal nocturnal haemoglobinuria Paroxysmal nocturnal haemoglobinuria (PNH) is an extremely rare blood disease. However, thanks to a dedicated service, patients can receive expert care, support and a near-normal life expectancy in the UK.

s a disease affecting 16 per million people and with around 1,000 confirmed patients in the UK, a diagnosis of PNH can be a huge shock. It presents clinically with a variety of symptoms, such as haemoglobinuria (red or black urine); fatigue and shortness of breath.

INTERVIEW WITH Dr Morag Griffin Joint PNH Service Lead, Leeds Teaching Hospitals NHS Trust

INTERVIEW WITH Dr Austin Kulasekararaj Service Lead for the King’s National PNH Service, King’s College Hospital NHS Foundation Trust Hospitals NHS Trust WRITTEN BY James Martin

Find out more at pnhserviceuk.co.uk

What is paroxysmal nocturnal haemoglobinuria? In PNH, red blood cells in circulation break apart prematurely. This ‘breaking apart’ is also called haemolysis. It can give rise to abdominal pain, erectile dysfunction and difficulty swallowing, as well as red or black urine. There’s also a much higher risk of blood clots. It can affect people of any age. PNH requires regular observation and treatment. Network of support for PNH patients Patients in the UK are fortunate to receive support they find it, they will refer them to either Leeds or and treatment from a dedicated network of medical London,” says Dr Griffin. professionals and patient support groups under There’s a 24-hour clinical emergency service in The National PNH Service, formed in 2009. One her hospital in Leeds. In less critical cases, there are of the experts, Dr Morag Griffin is a haematology video call options for patients if they’ve missed one consultant and joint service lead for PNH at St of the outreach clinic slots. “We’ll do a full clinical James’s University Hospital, Leeds — and one of the assessment and explain the condition to the patient,” few specialist PNH consultants in she adds. the UK. As it is such a rare “The national service was set up Worldwide network coverage to be a patient-facing service. So, As it is such a rare disease, there disease, there is a patients would be able to see our is a concentration of experience concentration of team at a particular clinic nearest within the service that cannot be to them, rather than having to matched elsewhere in the world. experience within the come into Leeds or London,” she UK specialists provide education explains. With colleagues from her worldwide to further PNH service that cannot be Leeds team and consultants from knowledge — both in terms of matched elsewhere in King’s College Hospital London, diagnosis and management, and their clinic travels to eight areas in this has improved patient care the world. the UK regularly. globally. Dr Austin Kulasekararaj, Consultant Haematologist and Lead for PNH services Advancing treatment for more patients from King’s College Hospital London, further Treatments focus on binding proteins in the blood explains: “The ability to offer novel treatments, with to prevent destruction of red blood cells and the possibility of leading a normal life and preventing significantly reduce the risk of blood clots — known undue complications of PNH, is the ultimate goal of as complement inhibitor treatments. “Treatments in the National PNH service. It is through these clinics the UK and other countries with advanced medicine that this aim becomes possible.” in this area are 20 years old; but it’s shocking that, in over 80% of the world, there are no complement Process of getting a diagnosis inhibitor treatments available,” says Dr Griffin. Patients can present with symptoms in any number International conferences and research projects of hospital specialities, so circulating knowledge could enable treatment access globally and improve about the disease is a key part of the network. “We side effect management for all ages and types of do a lot of raising disease awareness because it patients. “We currently have 64 patients in clinical is a very rare disorder. But if you find it, it’s very trials in the UK, which is a testament to the work that manageable. Patients will quite quickly be referred doctors, nurses and allied staff — alongside patients to a haematologist, depending on their pathway. The — are doing to ensure quality of life is the highest it local haematologist will screen for PNH first and, if can be,” concludes Dr Griffin.

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Future of medical education: how to ensure rare disease is part of learning Training to equip healthcare professionals to diagnose and treat people with rare conditions with confidence and compassion is an important part of the patient journey.

ollectively, rare diseases form a discipline of medicine with unique challenges and unmet patient needs. A fundamental understanding of rare disease is therefore essential for healthcare professionals. Medics4RareDiseases (or M4RD) is a charity dedicated to providing and promoting rare disease education for medical students and doctors, to help improve the lives of those living with rare conditions. Healthcare professionals’ knowledge of rare disease MedScape’s study of clinicians has highlighted large knowledge gaps when it comes to rare disease and the need to increase basic understanding. This information supports initial results from a new study by M4RD, assessing the objective and subjective knowledge of rare disease in UK medical students. Half of the medical students surveyed could not define a rare disease, and less than 10% correctly identified that over 3 million in the UK are affected by one. These initial results, along with those from Medscape’s study, illustrate how imperative it is to educate healthcare professionals on the basics of rare diseases from the very beginning of training.

WRITTEN BY Dr Emma Huskinson Communications Lead, Medics4Rare Diseases Ltd

The way forward in medical education Advances, such as those in genomic medicine, hold vast potential to improve the lives of people living with rare diseases. However, many will not benefit from these innovations in science if medical education doesn’t also evolve. Doctors need to be trained to suspect rare disease to help address the ‘diagnostic odyssey’ faced by those with rare conditions (which means it can take years to reach a diagnosis). They need to be educated on the common challenges associated with rare conditions, the painful issues of coordination of care and the fundamental role of advocacy. Collaboration and mandatory rare disease training M4RD is making headway into its mission to advocate and provide rare disease training. The charity is proud to be working with Barts and the London School of Medicine and Dentistry, Queen Mary University of London. Together, they are evaluating the undergraduate medical curriculum content and integrating rare disease education into it. The charity will also be providing rare disease training to newly qualified doctors through mandatory training with Sheffield Foundation Teaching Hospitals NHS Foundation Trust. The hope is that, eventually, all medical schools and foundation programmes will include mandatory training on rare disease. Only through innovative training can we better recognise, diagnose and holistically manage rare conditions for people affected.

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Rare disease education reaches over 1 million learners

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S WRITTEN BY Christy RohaniMontez, Ph.D. Director of Clinical Strategy, Medscape Education Global

Gaps in rare disease care Many patients face a long road to diagnosis, often receiving inappropriate management for years before their condition is correctly identified. These delays can have a detrimental effect on their quality of life and lifespan. They can result in many patients undergoing

inappropriate, and sometimes painful, tests and interventions in their search for answers. A need for rare disease education In June 2023, Medscape Education published the results of a multispecialty, multinational survey of 978 clinicians across 16 specialties.1 The key findings were: • Two-thirds of clinicians considered rare diseases to be between 50 to 500 times rarer as compared with standard US or EU definitions. • Despite an estimated point prevalence for rare diseases of 3.5% to 5.9% of the world population, 59% reported never, or rarely (one to two times per year), seeing a patient with a rare disease in their practice. • Although 87% reported having been

A reliable resource dedicated to easing rare disease research for all Participant screening for complex research studies can be lengthy and costly, especially in rare diseases in which there are smaller patient groups geographically dispersed.

E WRITTEN BY Dr Nathalie Kingston Director, NIHR BioResource

stablished in 2007 at the University of Cambridge, the National Institute for Health and Care Research (NIHR) BioResource brings people and health research together, recruiting over 250,000 recallable volunteers with and without health conditions who have consented to participate in research studies to investigate the links between genes, the environment, health and disease. Notably, it has recruited over 20,000 volunteers across more than 50 rare disease areas.

research is overwhelmingly focused on adults. To address this challenge, the BioResource has launched the worldfirst national children’s health research programme called the DNA, Children + Young People’s Health Resource. With support from children and their guardians across the UK, D-CYPHR will change this, helping researchers understand how DNA affects health and development in childhood, and ultimately finding clues and new treatments for major health conditions and rare diseases.

Key contributions to rare disease By screening participants for genes and/ or phenotypes of interest, research that would have otherwise proven too costly or time-consuming is made possible. Even more challenging is health research on rare disease in children. Most health problems start in the first two decades of life, but despite this,

Streamlined research and logistics The screening process to identify suitable individuals for research studies when complex genetic and phenotypic criteria are involved can be lengthy and costly, even more so in rare diseases with small, dispersed sample sizes. BioResource coordinates the samples, data and

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The survey showed that preferences for rare disease education included a comprehensive learning platform with current education and resources and case and text-based formats shorter than 15 minutes — taught by world-renowned experts.

Education on rare diseases is crucial. Estimates suggest there are approximately 10,000 rare diseases, with 263–446 million people affected worldwide.

ince its launch in September 2022, the Medscape Pathways in Rare Disease Learning Centre has reached over 1 million learners, with education spanning 25 therapeutic areas. Considering the volume of monthly learners engaging with the education, an average of over 900,000 patient lives are potentially being positively impacted every month.

involved in a rare disease diagnosis, only 19% were mostly or very confident in making the diagnosis. • Clinicians experience diagnostic barriers, including knowledge of signs and symptoms, time to investigate, guideline availability, test access and referrals.

Access to education and training On the Pathways in Rare Disease Learning Centre, clinicians can access the largest collection of accredited rare disease activities, rare disease factsheets, patient journey videos and more. Medscape is proud to be collaborating with Medics4RareDiseases (M4RD), which passionately advocates for rare disease patients and provides both online and in-person rare disease training, with a focus on the patient experience and practical guidance for the clinician. By expanding the Pathways in Rare Disease Learning Centre, and examining learning gaps and needs, the key objective is to shorten the diagnostic gap and enable patients around the world to receive the care they need.

analysis that drive growing knowledge to take research from the bench to the bedside — all while collaborating with more than 100 NHS Trusts. Specifically, it supports researchers from industry and academia with: participant recall by genotype or phenotype; provision of genetic and/ or clinical data; stored DNA samples (blood/saliva), plasma and serum; and recruitment of volunteers for research studies and early-phase clinical trials. Collaborative rare disease community This is all made possible by its dedicated community of health research volunteers. Those living with rare diseases and researchers are all too aware that this critical research area may be overlooked as it benefits a relatively smaller group of patients and because information about such diseases is less widely known. Nevertheless, more research is needed and, indeed, ‘Pioneering Research’ is an underpinning theme of the UK Rare Diseases Framework. The NIHR BioResource’s infrastructure and partnerships with the NHS and industry leaders present a unique opportunity for patients to be readily and easily involved in research. It has been developed by researchers, for researchers, all while keeping volunteers at the centre.

References 1. Rohani-Montez SC, et al. Educational needs in diagnosing rare diseases: A multinational, multispecialty clinician survey. Genetics in Medicine Open. Volume 1, Issue 1, 2023, 100808.

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Faster treatment access: why putting patients first leads to better outcomes Collaboration with regulators, physicians and pharmaceutical firms can improve access to medication for those living with a rare disease.

mbracing the rare disease community, as well as an effective reimbursement and healthcare system can help speed up access to care. BioCryst Pharmaceuticals explains how committed relationships with patient groups, health care professionals and regulators can result in improved outcomes for those living with rare disease in the UK.

INTERVIEW WITH Luke Robinson Vice President & General Manager, UK, Ireland, Nordics, BioCryst Pharmaceuticals, Inc.

WRITTEN BY Mark Nicholls

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Prompt response to patient needs Vice President and General Manager, Luke Robinson explains what ‘patient first’ means at BioCryst. “As a company, we look at ways we can enable patients to access new treatments more speedily, particularly in rare diseases where there can be limited options and a significant impact on quality of life and often life expectancy. In this space, we have a closeness to patients and physician groups, and because of that, we can see a direct positive impact on outcomes.” Standing with the rare disease community The focus at BioCryst is rare diseases — from hereditary angioedema, a disorder characterised by recurrent episodes of severe swelling to the limbs, face and intestinal tract to research focused on complement deficiency disorders and many other rare diseases. “We chose to invest in the UK because it has a developed

healthcare system, a world-class regulator in the MHRA, a well-respected reimbursement body in NICE and active patient groups,” explains Robinson. “It is a good test bed for how you can bring a product to market and address unmet needs in the context of limited treatment options.” He particularly points to the Early Access to Medicines Scheme (EAMS), which complements the company’s ethos of keeping no patient waiting. “This enables us to gather ‘real-world’ experience and data outside a clinical trial,” Robinson adds. “While it is a learning experience for physicians and us, in terms of how to use products in the best way, it also supports our collaborative approach, which focuses on working with groups that can support efficient delivery of treatments to those in need.” Supporting better outcomes for all “Putting patients first and caring for people with a rare disease requires a holistic approach,” advises Robinson. An increased number of options is essential as living with a rare disease can have a significant psychological and physical impact. While the UK has shown that it is a place where patient-centric companies can work collaboratively with regulators and others, it is important, as we progress, that this engagement continues while always keeping patient need and choice at the centre.

Ensuring universal health coverage (UHC) for persons living with a rare disease (PLWRD) means that this often-neglected community has access to the healthcare services they need, with less or no out-of-pocket expenses.

Three dimensions of UHC in rare disease UHC ensures everyone can access the quality essential health services they need without being exposed to financial hardship. United Nations (UN) Member States need to consider the three dimensions of UHC when improving health service coverage for PLWRD: 1. Population: Population coverage lags far behind in most countries. 14

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burden leads to the impoverishment of the rare disease population. National authorities need to consider those dimensions as well.

Ensuring universal health coverage works for every person living with a rare disease

or the more than 300 million PLWRD worldwide, the time to act on the commitment expressed in the Political Declaration on Universal Health Coverage is now.

Find out more at biocryst.co.uk

Remedying this starts by collecting data to understand the barriers that are impacting equitable coverage. 2. Services: PLWRD have complex needs, which national authorities must accommodate when developing their UHC essential health service package to include the services that are indispensable to this vulnerable population. 3. Direct costs: PLWRD often experience financial difficulties caused by out-of-pocket care expenses. They may also have significant additional costs, including transport and rehabilitation. This greater financial

Blueprint for leaving no one behind Rare Diseases International (RDI) held a ‘Formal Side-Event to the High-Level Meetings on UHC’ on 21 September at the UN Headquarters, organised with the Spanish and Swedish Permanent Missions to the UN; NGO Committee for Rare Diseases; EURORDIS-Rare Diseases Europe; Agrenska Foundation; and Federación Española de Enfermedades Raras (FEDER). The global community of PLWRD encouraged Member States to implement the Political Declaration on Universal Health Coverage and the UN Resolution on ‘Addressing the challenges of persons living with a rare disease and their families.’ Policymakers can start by supporting the identification of rare diseases, and their better classification and codification, by strengthening healthcare systems, integrating rare diseases into their UHC plan and facilitating access to affordable treatments for rare diseases. This way, the 2030 Agenda — particularly Sustainable Development Goal 3 on good health and wellbeing and its mission ‘to leave no one behind’ — can be catalysed and achieved.

WRITTEN BY Alexandra Heumber Perry Chief Executive Officer, Rare Disease International (RDI)

WRITTEN BY Dolores Cviticanin, Public Affairs Manager, Rare Disease International (RDI)

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Rare disease registries enhance our knowledge and help patients get better outcomes Rare disease registries have become an increasingly important resource to help guide physicians and patients to select the most appropriate treatment(s) to get the best outcomes.

are diseases have a significant impact on the lives of both patients and their families. Historically, there has been a paucity of information available on most rare conditions. As our understanding and management of rare diseases improve, and as new treatments emerge, there is an increasingly urgent requirement to track these patients. Reveal, interpret, improve Rare disease registries are designed to monitor a defined patient population and gather data on the natural history of specific diseases. By collecting data on treatment patterns and using real-world evidence clinical endpoints, rare disease registries can provide valuable insights into the demographic patterns of disease presentations, as well as responses to available and emerging treatments — specifically both immediate and long-term outcomes. Rare disease treatment regularly includes the use of both well-recognised licenced drugs and off-label drug use. Crucially, registries can track their usage and effectiveness, allowing physicians and patients to tailor an individualised approach aiming to get the right treatment to the right patient.

UHC ensures everyone can access the quality essential health services they need without being exposed to financial hardship.

Patient-focused registries The rare disease knowledge gap means patient-focused registries are fundamental to advancing our understanding of these diseases. By facilitating remote data collection of Patient Reported Outcomes Measures (PROMs), using ‘smartphone technology,’ these registries can automatically and continuously monitor and measure a patient’s response to their treatment. Crucially, the patient’s quality of life (QoL) can be continually assessed and recorded. Rare disease registries are individually designed to support all stakeholders, especially patients themselves, their clinicians, patient advocacy groups, charities, commissioning groups and the pharmaceutical industry. Dendrite Clinical Systems has a long track record of setting up hundreds of registries for common diseases and conditions. Over the last decade, Dendrite has been commissioned to build a series of important rare disease registries for a diverse range of conditions. These registries are already providing very valuable insights and are now playing an important role in monitoring the benefits of new therapies, including drug repurposing to guide the best evidence-based management for a multitude of rare diseases. WRITTEN BY Dr Peter K. H. Walton Managing Director, Dendrite Clinical Systems Ltd

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Uncovering rarity in heart failure The Government recently launched a call for evidence to inform its major conditions strategy and pointed to cardiovascular disease as one of the key major conditions that it will aim to make improvements in.1

n the UK, over a million people are currently living with heart failure2 – where the heart is unable to pump blood around the body properly and gradually becomes too weak or stiff to function properly.3

WRITTEN BY Owen Marks Head of Rare Diseases, Pfizer UK

PP-UNP-GBR-6305 September 2023

Rare causes of heart failure While heart failure tends to be caused by conditions such as coronary heart disease, high blood pressure and disease in the heart valves, it’s important we look at tackling some of the rarer causes of heart failure such as lung disease, heart rhythm disorders and cardiomyopathies.3 I want to focus in on one of those areas, cardiomyopathy, which is a disease of the heart muscle. ‘Cardio’ means heart, ‘myo’ means muscle and ‘pathy’ means disease.4 It isn’t a single condition but a group of conditions that affect the structure of the heart and reduce its ability to pump blood around the body and can ultimately lead to heart failure.4 Addressing gaps in rare and ultra-rare conditions The current challenge is that like many rare diseases, cardiomyopathies can often take a long time to detect, diagnose and treat5 – it’s another example of the rare disease gap, which exists for people living with rare conditions. Even once diagnosed, there is often a lack of reimbursed treatment options as rare disease treatments can fall through the gaps of NICE’s current appraisal routes,

which tend to only cater for ultra-rare conditions or more common conditions.6 It’s important that we remain hopeful on the progress that can be made for people living with cardiomyopathies and rare diseases more generally. The first rare disease action plan for England was published in 2022 and set out a vision for delivering improvements in diagnosis, awareness, treatment and care. 7 At Pfizer, we will continue to advocate for progress. We will continue to push ahead with our science expertise, to expedite the time taken to develop these medicines and to push for reform of how these medicines are assessed so that, ultimately, they reach the patients who need them. References 1. Department of Health and Social Care (DHSC). Major conditions strategy: call for evidence - GOV.UK (www.gov.uk) Last accessed: August 2023 2. British Heart Foundation (BHF) Facts and figures - Information for journalists - BHF Last accessed: August 2023 3. NHS. Heart failure - NHS (www.nhs.uk) Last accessed: August 2023 4. Cardiomyopathy UK. What is Cardiomyopathy? What is cardiomyopathy? | Cardiomyopathy UK Last accessed: August 2023 5. Cardiomyopathy UK. Public Change Agenda. Public Change Agenda_FINAL.pdf (cardiomyopathy.org) Last accessed: August 2023 6. Trim J, Nair M & Large S. HTA238 Uncovering the Hidden Rare Disease Gap Within NICE Appraisals. Value in Health 2002;25:12(Suppl): S343. HTA238 Uncovering the Hidden Rare Disease Gap Within NICE Appraisals - Value in Health (valueinhealthjournal.com) Last accessed: August 2023 7. Department for Health and Social Care. Rare Disease Action Plan. England Rare Diseases Action Plan 2023: main report - GOV.UK (www.gov.uk) Last accessed: August 2023

Clinical trial search: how to match patients and help them with unmet needs

pushing patients towards,” he adds. Patient support is top of the priority list, with a team of dedicated patient navigators to help families through every step.

An online platform is making the clinical trial search easier for patients seeking treatments and pharmaceutical companies that need the right patients to conduct them.

M INTERVIEW WITH Michel van Harten CEO, myTomorrows WRITTEN BY James Martin

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ichel van Harten is trained both in economics and as a physician, giving him a sharp perspective on both the patient and business side of healthcare provision. As CEO of myTomorrows, he is at the helm of a healthtech enterprise that matches patients with unmet medical needs to treatments in development. Developing a clinical trial search platform Van Harten explains: “The business was launched 10 years ago with a belief that every person living with a serious disease deserves easy access to treatment. To do this, we built a powerful treatment search platform, which connects patients, physicians and BioPharma.” In the past six months, myTomorrows have further

invested in their search functionality, launching a physician-focused AI search tool, aiming to transform the search for clinical trials. Unbiased AI matching patients with trials Newly released TrialSearch AI can reduce pre-screening checking time for physicians by 90%. Van Harten says: “Our tool matches a patient’s profile to an option within minutes. With the help of large language models, we reduce physician searching time by quickly identifying a suitable and actionable list of options.” Possible treatments for patients may include clinical trials or, when necessary, expanded access programmes. “Our process is unbiased, so we have no particular trial we are

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Unique omni-stakeholder approach All services for patients and physicians are free, however, there are fees for BioPharma services. Van Harten explains: “We provide patient screening for clinical trials, end-toend expanded access management and real-world data collection, analysis and consultancy. Our teams are experts in assisting companies with regulatory, compliance and supply chain processes as well as supporting with data analysis, which can help at the drug approval stage.” Community outreach to drive awareness With 80% of clinical trials failing to reach enrolment targets globally, van Harten says that greater awareness is needed. “That’s why our medical community team proactively supports physician and patient communities within specific disease areas; for example, there is a significant brain cancer medical community in the UK, and we’re helping to link treating physicians with our platform, to drive awareness about relevant treatment options for patients with this challenging disease.” With the imperative to leverage tech to help patients discover and access treatments, myTomorrows continues to be ahead of the industry curve.

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