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JAYNE SPINK, GENETIC ALLIANCE UK “At no previous point in history has research promised so much to the rare disease community.” » p2

DR SHEULI PORKESS, ABPI “Genomics leads us to better insights into the causes and treatments of rare conditions.” » p4

DR ANA RATH, ORPHANET The number of people living with a rare disease is estimated at 300 million worldwide. » p8

Rare Diseases


“Barry has Hypophosphatasia (HPP). HPP is a rare genetic disorder characterised by the abnormal development of bones and teeth. These abnormalities occur due to defective mineralisation, which results in bones that are soft and prone to fracture and deformity. (Source: NORD) “Emotionally, it has been hard to cope with Barry’s condition. You just can’t think about it... We try to fight together, doing everything day by day and we will overcome it all and try to become stronger.” © CERIDWEN HUGHES

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“Aidan is 14 years old. He has cerebral palsy, he is epileptic and also has a syndrome called worsterdrought syndrome. I have seen Aidan go varying colours from blue to purple where his oxygen saturation went down to the point that he needed to be resuscitated. He stopped breathing many, many times and has been in intensive care too many times to count,” says his mother, Natasha.

Clarity of approach is essential to realise opportunities for all As we mark Rare Disease Day 2020, we stand on the brink of a golden age; at no previous point in history has research promised so much to this community.


i g n i f ic a nt te c h nolo g ic a l advances mean that individuals affected by rare diseases now have hope of access to speedy diagnosis, information, support, care, research or treatment. Early access to effective care and treatment is realistically within our grasp, for the many rather than the few. However, when looking to the future, it is easy to overlook the value of technologies we already have. Because of this, we habitually erect needless barriers between those affected by rare diseases and the best possible outcomes. But while the barriers to providing optimal healthcare for all rare disease patients are significant, they are not insurmountable.


Patient experience is key to future developments S even yea rs i nto t he f i rst U K strategy for rare disease, there have undeniably been huge changes in terms of policy, str uctures, processes, technolog y and innovation. Yet, we lack any way to measure the impact of these changes, or the strategy itself, on the experience of rare disease patients. With the UK strategy ending in 2020, the opportunity to rectify this for the years ahead is upon us. The future policy framework needs to learn lessons from the past and build in patient experience as a key metric right from the start.

Integrated thinking – the missing discipline The he a lt hc a re e c o s y s tem i s fiendishly complex and tends to work in silos. In the context of rare diseases, fragmentation is the enemy of progress. In accessing a diagnosis and the right care, support and treatment, patients and advocates face a series of hurdles. To improve outcomes for our community, rare disease advocates must focus on disparate bodies whose collective decisions will ultimately determine the length and quality of patients’ lives. This fragmentation and diversity of approach to decision-making and funding is the cause of so many problems. It is why children born

WRITTEN BY: JAYNE SPINK Chief Executive, Genetic Alliance UK and EURORDIS Board Member

with rare diseases (which would be best treated prior to symptoms show i n g, u s i n g te c h nolo g ie s available within our NHS), are not picked up through screening at birth. It results in an NHS that is slow to provide funding for rare disease medicines or, in half of cases, declines to fund access at all. It is the reason why, despite notable and very welcome initiatives relating to the collection and use of patient data, we still know surprisingly little about the prevalence and natural history of most rare diseases. Be bold but be inclusive The diversity of need is so great and varied that rare disease patients should not be asked to collectively

prioritise one element of their journey over any other. A holistic approach is critical; c o n s i d e r, fo r e x a m p l e , w h at happens dow nstream from genom ic me d ic i ne d ra s t ic a l ly shortening the diagnostic odyssey. Delivering improved outcomes needs a whole-system approach. The g ove r n me nt i s d r iv i n g forward a bold vision for genomics; we need an equally bold vision for care and services for people affected by rare diseases.

Find out more at www.healthawareness.co.uk



Sabah was diagnosed with cancer of the kidneys when she was just a year old. “It really helps a lot to have people who know how I feel. You don’t feel left out. You know that someone can actually understand you instead of a person just saying ‘yes I get it’. Quite often people will say that they understand but, unless they have been through it, how can they?”




April has a genetic metabolic disorder known as Hurler Syndrome (MPS1). MPS1 (mucopolysaccharidosis) is a genetic metabolic disorder. It causes a build-up of sugars in the body that would usually be broken down and removed by the body. These sugars affect every part of the body and result in general deterioration. If untreated, Hurler patients cannot grow or develop past age three or four and rarely survive to ten years old.

Delivering cell and gene therapy engaging patients and the public

WRITTEN BY: NICK MEADE Director of Policy, Genetic Alliance UK

Cell and gene therapy are innovative treatment paradigms that are expected to revolutionise the treatment of patients with unmet need this decade.


ell t herapy is treatment using living cells - modified versions of the patient’s own cells or modified versions of a donor’s cells. Gene therapy is treatment using human genetic material, adding to or changing the genetic material of the patient. Though both concepts have been around for a long time, with the recent use in the NHS of CAR-T cell therapies and multiple gene therapies for rare diseases being assessed by NICE, we are clearly on the cusp of a new era of treatment. Patient and public dialogue the twin track approach The arrival of innovative approaches to treatment usually heralds the arrival of calls for national exercises to educate and engage the public on the technology and its implications. We have seen this happen twice in recent years in the rare disease field with mitochondrial replacement therapy (more commonly, but less accurately known as three-parent IVF) and with genome editing. Genetic Alliance UK has long


stressed the impor tance of differentiating between ‘patients’ and ‘the public’ - they are not the same, and are not two distinct groups either. There is a complex popu lat ion w it h spectr ums of opinion and attitude. The group of people affected by rare, genetic and undiagnosed conditions have a distinct attitude to issues such as data-sharing for research (strongly positive, even in the face of loss of privacy), adoption of innovative techniques (strongly positive, even with moderate risks), and many other issues. Some of the motives for these perspectives are unmet health needs - most of these conditions have little or no treatments, and severity of condition - many conditions are serious and chronic or severely life-limiting. Engage first with the patient, then roll out for public support So of course, engagement needs to involve patients as well as the public. We would go further than this and say that engagement with patients is

The group of people affected by rare, genetic and undiagnosed conditions have a distinct attitude to issues such as data-sharing for research (strongly positive, even in the face of loss of privacy) best done first, not least to improve the quality of public engagement. The public can clearly engage with new technology independently of the patient experience, but public judgement is soundest when informed by an understanding of the value of technologies to patients. Starting with the treated individual, this value spreads out to siblings, parents, children, carers, the wider community, and saved opportunity and economic costs. Genetic Alliance UK’s project, launching in May 2020, Talking about Cell and Gene Therapy, will educate and engage patients, parents and carers in cell and gene therapies. Following the model we pioneered with Progress Educational Trust in 2017, when we worked on genome

editing, we will have a series of workshops and a site visit to deliver two products from this work. First, a group of people living with rare, genetic and undiagnosed c o n d it io n s w h o a r e e n g a g e d and educated in this emerging technology. They will be able to engage in decision-making and in public discourse. We will also produce an analysis of the learning experience of our participants, examining which issues are most important to them, and where comprehension of the topics can be most challenging and which solutions are most effective. Contributing to the future management of therapies The national element of engagement

is important. Engagement work in silos can become counterproductive and contradictory. This is why we are pleased that our work will feed into the activities of the National Institute for Health Research’s UK-w ide Advanced Therapies Coordinating Group, which aims to provide the framework for developing the UK’s ability to undertake clinical trials efficiently in this area. Priority areas of work for the group include providing patients i n for m at ion ab out t he se new t h e r ap ie s , t r a i n i n g t h e N H S workforce to understand and use advanced therapies, ensuring the relevant facilities are in place and helping pharmacists to develop the new processes and skills to administer these exciting new therapies safely.

Find out more at www.healthawareness.co.uk



The unique challenges in bringing rare disease therapies to market The extensive research and development needed to produce new treatments targeting rare diseases is only half the battle. Before marketing, some unique challenges have to be navigated.


ioneering biotechnolog y, focused on antibody engineering technology, is being used to develop treatments for some of the many rare diseases lacking effective therapies. To date, this has delivered a number of innovative therapies, spanning conditions in disease areas including oncology, immunology/allergy and the central nervous system. All have the potential to deliver diseasemodifying and life-changing results. Richard Johnson, Country General Manager for the UK & Ireland at Kyowa Kirin, explains how the success of research and development presents a set of challenges that need to be overcome in order to bring the products to market. “In many rare diseases, there has never been an effective treatment. This means any company that has developed a drug will nearly always be new to the therapeutic area and so facing a steep learning curve. In marketing treatments for rare diseases, not only is the prescribing physician important, the entire multidisciplinary healthcare professional team must be fully engaged. “The challenge is defining exactly who is managing patients with a rare disease. The nature of rare diseases means that there are often few healthcare professionals with


specialist experience and sometimes even the medical discipline involved in treatment varies from one Trust to another.” This lack of familiarity with the relevant therapy area means it’s important that the learning process begins very early on in the development of a new medicine. Gathering patient and carer insights is critical in drug development for rare diseases Keeping the needs of the patient in focus is critical to the success of any treatment in rare diseases. Patients and their caregivers can provide valuable insight into the challenges of living with a condition. Their experiences help to define the various referral pathways through the health system and provide an understanding of the inadequacies of current treatments. Developing appropriate partnerships with patient groups can be helpful in reaching patients, a lt houg h t he low nu mbers of affected individuals can mean that no such groups exist. Market access The primary challenge is generating a robust evidence package that demonstrates t he value of t he technology to payers and other stakeholders.

WRITTEN BY: RICHARD JOHNSON Country General Manager, UK & Ireland, Kyowa Kirin

Gathering and disseminating real world evidence is key in preparing reimbursement dossiers for medicines targeting rare diseases. There are a number of drivers of uncertainty in rare disease, including the low number of patients in clinical trials and the lack of data on existing disease burden. A robust value story requires good understanding of the disease burden for patients and carers, an area where patient groups can give invaluable insight. Gathering and disseminating real world evidence is key in preparing rei mbu rsement dossiers for medicines targeting rare diseases. Challenges include the fact that there are usually no disease-specific registries in place, meaning these have to be set up by working in collaboration with all stakeholders. It can also be the case that, even if an early access programme exists, data extraction is understandably restricted and controlled for ethical reasons. Engaging with payers Bu i ld i ng pa r t nersh ips res u lt s in the development of working relationships with regulatory and hea lt h tech nolog y assessment

bodies. Experience has shown that the best way to tackle the challenge of securing reimbursement for medicines in the UK is to align closely with health authorities and engage with the existing framework as early as possible. “The primary objectives of these bodies are to support patient care and improve outcomes,” says Richard. “We market our therapies with the same objectives and so it’s to our mutual benefit to work together to achieve these. Our pipeline includes therapies for a diverse range of conditions; it follows that we are going to touch on lots of different funding routes within the NHS, so we must work in partnership to understand how patients can access our medicines. It is in the best interests of all parties to understand each other’s needs to make sure that patients get the benefits of lifechanging treatment.”

About Kyowa Kirin Kyowa Kirin Limited is a Japanese-owned researchbased life sciences company. We use a strong evidence base to contribute to the health and wellbeing of people, with a portfolio in rare diseases and specialty care. Our values are focused on integrity, innovation and teamwork and putting patients at the centre of what we do. Find out more at: www.international. kyowa-kirin.com/uk/

KKI/UKIRE/NPR/0014 Date of Preparation: February 2020

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Non-communicable diseases: a dietary approach with fruit extracts WRITTEN BY: DRA REBECA QUIRÓS-FERNÁNDEZ La Paz University Hospital, Spain

WRITTEN BY: PROF EMAD AL-DUJAILI Queen’s Medical Research Institute, University of Edinburgh, Scotland, UK

Non-communicable diseases such as cardiovascular diseases are major causes of worldwide mortality. Scientists comment recent findings with standardised extracts from pomegranate and olive fruits. Mediterranean fruit extracts Plant-derived ingredients, typical of a Mediterranean-style diet, contribute to its documented cardiometabolic effects, mostly through polyphenols as from olives and pomegranates. Euromed proposes patented standardized extracts from these superfruits, obtained with water-only extraction technology. Research suggests their potential role in primary prevention. Dra QuirósFernández and Prof Al-Dujaili discuss their findings. Cardiovascular health prevention: Spanish study Dra. Quirós: we investigated the combined oral administration of two extracts rich in hydroxytyrosol (9,9 mg) and punicalagin (195 mg) from olives and pomegranates (Pomanox and Mediteanox), to apparently healthy middleaged people. After 8 weeks of daily intake, compared to a placebo, participants showed significantly improved test results of crucial early warnings of the initial phase and in general, all phases of atherosclerosis. These warnings or markers, are for example a reduced efficiency of blood circulatory system (endothelial dysfunction), elevated circulating levels of harmful oxidised lowdensity lipoprotein (LDL) cholesterol, and pre-hypertension. The significant improvement was greater in subjects who initially showed alterations in such markers. Endothelial dysfunction and oxidised LDL cholesterol are key early atherosclerotic markers, even predicting future cardiovascular incidents both in apparently healthy and symptomatic subjects. Therefore, regular intake of these extracts could contribute to primary cardiovascular prevention1. Investigating health-promoting pomegranate extract Prof Al-Dujaili: our group completed several randomised controlled studies in healthy volunteers with a specific pomegranate extract (Pomanox), focusing on the prevention of important risk factors for non-communicable diseases. Based on promising results, we are conducting further investigations. In line with literature, we found a consistent lowering of systolic and diastolic blood pressure. We detected other interesting properties. For instance, a four weeks study with the extract identified a significant decrease in insulin resistance, and glucose, insulin and uric acid all decreased from baseline. We also found a significant drop in salivary cortisol levels; additionally, Pomanox daily administration (210 mg punicalagin) improved Quality of Life questionnaires scores2. In summary, we have a reasonable proof of concept for further researching this extract on the prevention of diabetes, cardiovascular diseases and high blood pressure, as it appears to reduce cardiovascular and diabetic risk factors, stress hormones, and improve health related quality of life. Integrative dietary approach While we can’t change risk factors as age, gender or genetics, we can make diet and lifestyle changes; however, obesity and poor lifestyle habits are major contributors to early mortality, mostly related to cardiovascular disease. Pomanox and Mediteanox are evidence-based, safe and well-characterised extracts that may provide valuable integrative options. Sources: Euromed (Dermapharm group) is a phytopharmaceutical ingredients global supplier established in Spain in 1971. 1: Nutrients. 2019 Mar 16;11(3); 2: EC Nutrition 2.4. (2015): 396-411

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“Rory is 18 months old and was diagnosed with congenital nephrotic syndrome at one month old. He spent the first year of his life in Birmingham Children’s Hospital (BCH) and was discharged on his first birthday. He is a strong little boy and he is doing very well now, growing and developing, which is what we want,” says his mother, Victoria.

It’s not actually that rare to have a rare disease

Rare diseases currently affect at least 3.5%, but maybe as much as 5.9%, of the worldwide population. That’s equivalent to around 300 million people worldwide.


or the first time, the number of people living with a rare disease in the world can be estimated. According to a paper published in September 2019 by the European Journal of Human Genetics, based on publicly-available epidemiological data in the Orphanet database, the number of people living with a rare disease is estimated at 300 million worldwide. The Orphanet database collects and curates data on rare diseases and orphan drugs, and is coordinated at the French Institute of Health and Medical Research (INSERM) by Dr. Ana Rath. Rare diseases are defined in the Orphanet database according to the European Union definition of not more than one in 2,000 persons in the European population. The study was conducted with EURORDIS, Rare Diseases Europe, and Orphanet-Ireland. According to t he research presented, rare diseases affect, at any point in time, 3.5% - 5.9% of the worldwide population. This is equivalent to a conservative estimate of a rou nd 3 0 0 m i l l ion pe ople worldwide, or 4% of the world’s population. The analysis shows that there are over 6,000 clinically defined rare diseases, 72% are genetic, and 70% of rare diseases start in childhood. The figures presented in the paper are derived from data from 67.6% of the prevalent rare diseases. As this analysis does not take into account rare cancers, nor rare diseases caused by rare infectious diseases and

WRITTEN BY: DR ANA RATH Director, Orphanet - INSERM US14 poisonings, the number of people affected by rare diseases is likely to be considerably higher. Robust data for policy development The study shows that 149 of the rare diseases analysed affect around 80% of the rare disease population. These most prevalent diseases each affect 100 – 500 people per one million. The next most prevalent 241 rare diseases analysed affect 10 – 100 people per one million people. Collectively, these nearly 400 diseases affect at least 98% of the rare disease population with a prevalence of 10 – 500 people per one million people. The remaining diseases analysed are the less prevalent diseases as they affect less than 10 people per one million people. This data can help inform health, social care and research planning to best serve patients and assure a maximal coverage of rare diseases. Better data ahead “Even if these are the best figures we can obtain today, they likely underestimate the number of rare disease patients still not visible in healthcare and social care systems,” stated Ana Rath (Orphanet). “Having

a specific codification system for them in national systems, such as the Orphanet nomenclature of rare diseases (ORPHA codes), will help obtain definitive figures and, more importantly, produce data needed to adapt healthcare systems for the most vulnerable people.” A public health priority The resea rch presented u si ng Orphanet data show that collectively, rare diseases are not rare, and supports over two decades of efforts from the rare disease community to advocate for rare diseases as a public health priority that affects millions of people around the world, and not the few. Th i s publ ic hea lt h pr ior it y, supported for many years at the European level, has been championed at the global level at the United Nations and has recently been integrated as a priority within the drive for Universal Health Coverage. The 300 million rare disease patients worldwide are sure to benefit from this new political dynamic that seeks to assure that no-one, no matter their rarity, is left behind.



Knowledge is power The key to ensuring faster PAH diagnoses Affecting just over 3,000 people in the UK, pulmonary arterial hypertension (PAH) is a rare and incurable disease that’s tough to spot. PAH symptoms are somewhat non-specific, so it can be misdiagnosed and mistreated as a result.


are diseases pose all sorts of problems for patients and clinicians. Those charged w it h re cog n i si ng t hem of ten lack knowledge of the conditions. Those with the disease may face an agonising and often painful wait to get the answers they need. Dr Luke Howard, an expert in PAH, shares his views on how those in primary care can be better equipped to spot the condition. Being diagnosed with a potentially life changing, and indeed lifethreatening, disease is a daunting prospect for anyone. Should that disease be a par ticularly rare condition, such as pulmonary arterial hypertension (PAH), the likelihood is that many GPs or primary care professionals won’t have seen enough cases in their career to immediately recognise PAH. Diagnosis can be slow. PAH is often mistaken for asthma And that’s a big problem. As a rare, incurable and devastating disease, PAH affects the heart and lungs, causing both a narrow ing of t he blood vessels that connect the right side of the heart t o t he lu n g s a nd a thickening of the blood vessel walls, leaving patients struggling to breathe and carry out daily activities. This leads to the heart having to work far harder to pump blood through the lungs and oxygenate the blood. PAH is characterised by breat h lessness, extreme fatigue, fainting and chest pain, and is a disease that affects people of all ages, often developing in early adulthood, and predominantly affects females. How many GPs, when presented with a breathless patient in their 20s or 30s, will suspect a serious heart or lung condition? This, according to Dr Luke Howard, a specialist in PAH, based in London, is part of the issue. “Tragically, a huge number of PAH patients are misdiagnosed at first, with asthma the most common diagnosis. Clinically speaking, this is often not well thought through. ‘Breathlessness while exercising – must be asthma’.” “If you look at the two – there’s a MEDIAPLANET

clear clinical difference. Asthma is typically episodic, with coughing and wheezing, often brought on by certain specific triggers such as hay fever or damp. With PAH, a patient will be constantly breathless. Whether they’re walking along the street or doing some light exercise.” Speed of diagnosis and treatment is crucial for a PAH patient As a clinician who sees how valuable time can be in preventing the often severe episodes and hospitalisations that an untreated PAH patient might expect before their diagnosis, Dr Howard is passionate about the immediate need to better educate GPs on how to spot PAH – or at least more realistically realise they’re dealing with something more complex than asthma and refer on for more detailed assessment. “Doctors must ask

themselves: ‘Does it actually sound like asthma? Because if it doesn’t, it could be something more serious, such as PAH’,” he says. But early diag nosis is often hindered by a lack of early symptoms. Often, patients are likely to have had the disease for years before they are diagnosed. Sometimes, diagnosis only occurs after a life-threatening, heartrelated event. By this time, more often than not, the PAH has become quite developed. “Part of the problem with PAH is that, because the lungs have so much reserve, quite a lot of changes can occur in the lung vessels before


DR LUKE HOWARD Consultant Pulmonologist & PAH Specialist the heart starts to notice it’s working that much harder. The heart tends to be fine until the pulmonary hypertension is quite progressed,” says Dr Howard. A s a d i sea se t hat c a n on ly b e fo r m a l l y d i a g n o s e d b y a catheterisation of the heart, which then measures pressure within the pulmonary artery – the blood vessel that connects the right side of the heart to the lungs - Dr Howard says that early diagnosis is often impossible. Ultrasound probes for heart distention might improve chances of earlier diagnosis “Primary care doctors may see one or two p at ient s w it h t h i s condition in their entire career. So, we can’t expect them to think of PAH when they see it when they’ll see so many people with breathlessness in comparison. But what they do need to do is say: ‘Well, if it’s not asthma, then I need to refer it on’.” Dr Howard insists that things can be improved upon. Establishing rapid response units for breathlessness to mirror those for chest pain – or increasing access to echocardiography to further investigate heart distention and breathlessness – would both help. As it stands, treatment and support remain focussed within seven centres in the UK. WRITTEN BY JAMES ALDER Find out more at www.healthawareness.co.uk

Nina’s story:

“I was just exhausted. I had no idea what was happening to me.” As a scientist and a dedicated martial artist, living in her then hometown of Exeter, Nina Meinzer was busy leading an active, healthy and fulfilling life when the diagnosis of pulmonary arterial hypertension (PAH) stopped her in her tracks.

Living in Exeter, it’s a very hilly place and just walking INTERVIEW WITH: to work became impossible for me. I used to throw up on the way to and from work – that became everyday life.” “If I travelled on holiday for instance, I was just exhausted. I had no idea what was happening to me.” Nina was diagnosed at the age of 32, with the disease having taken hold of her everyday life NINA MEINZER two years prior to that. Pulmonary Arterial Hypertension “It started with me getting Patient out of breath from activities I was used to doing. I was playing a lot of sport at the time, but I was getting out of breath at the slightest exertion – which made my coaches a bit worried. No matter how much I did, I wasn’t getting any fitter.” Nina’s life revolved around the sports she took part in. Brazilian jiu-jitsu and judo both required a high level of fitness, but Nina started to think something was seriously wrong when the warmup to her sessions had her hacking for breath. Misdiagnosed with asthma

The diagnosis that spelled the end of her sporting endeavours and changed her life irreparably came only after being misdiagnosed with severe asthma (the first diagnosis of asthma had already happened when Nina was 14 years of age) – as so many PAH patients sadly are. “Almost all the PAH patients I’ve met have been diagnosed with asthma, but not many actually have it.” “The asthma treatment was followed by tests for diabetes, which was quickly ruled out. Over the following two years, I reached the point where I was barely able to do anything. When I got a GP appointment he looked at me with my legs all swollen from all the water retention, barely able to walk from one room to another, and he said: ‘you’re going to go home, pack a bag, and we’re getting you to hospital’,” Nina remembers. “When you’re in your early 30s and present with severe heart failure, they don’t let you out until they know what’s wrong with you.” When the PAH diagnosis came, Nina was told she’d have to leave her sport behind, and that she would need to be on treatment to try to reduce the hypertension in the blood vessels in her lungs. Amateur theatre and a new life in (less hilly) London have allowed Nina to retain her verve for life, with her check-ups reduced from one every three months to just two a year. “It’s like any loss, you have to mourn it. But, if you can, try to replace the things you love with something else that you love. It is possible.” WRITTEN BY JAMES ALDER

The Pulmonary Hypertension Association (PHA UK) is the only charity in the UK dedicated to supporting people living with Pulmonary Hypertension. More information and free resources can be found at http://www.phauk.org/

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This feature has been organised and funded by Janssen UK and written on the company’s behalf by Mediaplanet, based on interviews with Dr Luke Howard, an expert in PAH, and Nina Meinzer, a PAH patient. The views expressed here are their own opinions.




What role can charities play in rare disease research? WRITTEN BY: PROFESSOR STEPHEN HOLGATE Trustee, GOSH Charity and Chair, GOSH Charity Research Strategy Advisory Panel

When you think about charities, perhaps you picture marathon-running or mountain-climbing fundraisers? But organisations like Great Ormond Street Hospital Children’s Charity (GOSH Charity) not only support seriously ill children from across the UK, they also have an incredibly important role to play in changing the landscape of research, especially in areas like rare diseases.


t’s estimated that one in 20 people will be affected in some way by a rare condition. Many of those diagnosed with rare diseases are children. Devastatingly, it’s estimated that one in three will not live to see their fifth birthday. Why? Typically, rare conditions can be difficult to diagnose, treatment options can be limited, and many simply have no cure. But there is an answer… Research. All of the seriously ill children who come to Great Ormond Street Hospital (GOSH) have complex and – more often than not – rare, conditions. Along with its research partner, UCL Great Ormond Street Institute of Child Health, GOSH is well placed to drive pioneering research. Research will lead to the new tests, treatments and cures that these children, and others around the country – and indeed the world – desperately need. Co-funding projects makes more money available for research On R a re Di sea se Day, we a re delighted to announce that 11 raredisease-focused projects have been supported through the annual £2 million GOSH Charity and Sparks ‘national call’. The call is dedicated to funding child health research across the UK and is a collaboration with Sparks, the children’s medical research charity. However, we also seek to work with other rare disease specialist charities. This year, we’re delighted to be co-funding projects with Dravet Syndrome UK, Myotubular Trust, and the Norrie Disease Foundation. The benefits of these partnerships are many, not least making more money available for researchers. Meaningful results These new, ground-breaking projects are wide ranging in their focus areas.


Some aim to unravel the drivers of aggressive childhood brain tumours, others work to support the UK arm of a global clinical trial, testing whether repurposing an existing cancer drug could help children with a rare and debilitating muscle disorder. It’s an exciting time for child-health research, and charities have a vital role to play in funding that research. But we mustn’t rest on our laurels. We owe it to the children who are relying on turning the breakthroughs, and the marathonrunning, mountain-climbing efforts of our incredible supporters, into the treatments of tomorrow.

More Info GOSH Charity is the UK’s largest dedicated funder of paediatric research. We regularly collaborate with other rare disease charities and research funders, like LifeArc, to co-fund pioneering medical research projects with the potential to change and save the lives of seriously ill children because we know we can’t make step-changes in child health alone. Find out more at: www.gosh.org/research

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“Callum was born with Kyphoscoliosis, which means he has not only a curve but also a twist of the spine. He also has some ribs missing too from birth and he has an operation to try and correct that on a regular basis. “It is a very rare condition and we have never met anybody else with this condition and we are in hospital a lot,” says his father, Peter

Understanding the challenges in the rare disease treatment pipeline will lead to better patient outcomes WRITTEN BY: STEVE BATES CEO, UK Bio Industry Association

People with rare diseases face immense challenges when it comes to diagnosis and treatment. One in 17 people in the UK will be affected by a rare disease at some point of their lives.


he UK is a world leader in several innovative therapies, and has globally leading, patient-led disease groups and research charities, expert clinicians and scientists. This comprehensive system makes the UK a great place to research and be treated for a rare disease. Our vibrant biotech sector is already delivering medicines that are improving the lives of rare disease patients across the UK and the world, such as those with Batten’s disease and spinal muscular atrophy. These treatments were the first of their kind, saving and enhancing the lives of thousands of people. But in entering this process, companies embark on a complex, risky, timeconsuming and costly journey. Our NHS is well suited as a health system to treat rare disease. Unlike other healthcare systems, Britons are secure in the knowledge that a diagnosis, however devastating, is highly unlikely to be bankrupting. The private sector shoulders the risk Often it can take up to 15 years and cost over £1 billion for a developer to take a medicine from initial research, to the point it becomes available to patients. This risk is carried by the private sector. A medicine goes through several phases of testing and clinical trials to ensure that it safely and effectively

One of the best kept secrets in the UK is that the drugs industry has agreed a total cap on the new branded drug expenditure in the NHS for the next three years treats the specific condition it needs to combat. These regulatory processes are important and necessary to ensure patient safety; however, the failure rate can be sizeable, with the drug developer bearing the financial cost. If a t herapy gets reg u lator y approval, those treating small pat ient popu lat ion s t hen face additional challenges in the form of more processes. The National Institute for Health and Care Excellence (NICE) evaluates medicines for the NHS w ith a 20-year-old process to assess the cost effectiveness of medicines using technical health economic criteria. This assessment is alien to the value-for-money assessment used in other parts of government, often excluding what is really valuable to patients and their families and what the impact will be on wider society. Access to medicines must improve 2016 data shows only 68 of 143 orphan medicines with a marketing authorisation are centrally approved for patient use and paid for by the NHS. One of the best kept secrets

in the UK is that the drugs industry has agreed a total cap on the new branded drug expenditure in the NHS for the next three years so, if drug expenditure goes above agreed levels, the industry pays the Government for the drugs the NHS prescribes. Even despite this budget guarantee, England is far behind countries like Germany, France, and Italy in rare disease medicine access. Many of the biotech companies working on rare diseases are smalland medium-sized enterprises (SMEs) with only a few medicines in their pipeline. The companies’ continued existence and role in delivering new, potentially life changing medicines is dependent on their medicines r e ac h i n g p at ie nt s a nd b e i n g reimbursed through the NHS.

Find out more at www.healthawareness.co.uk


Translational research can turn promising science into new treatments for those with rare diseases. It’s why we need more of it, says one expert supporting work to develop medicines.


h is is a hugely exc it i ng time to be working in the area of rare diseases, says Dr Catriona Crombie, Head of the Philanthropic Fund at LifeArc, a medical research charity that helps turn promising science into real, tangible benefits for patients. One reason for her optimism is the completion of the UK Government’s 100,000 Genomes Project in 2018. This was established to sequence 100,000 genomes from around 85,000 NHS patients affected by rare diseases or cancer, with the hope of increasing understanding of genetic variants and improving diagnosis and treatment. “Breakthroughs like this give the medical community an opportunity to start to work on treatments for diseases that had previously been considered untreatable,” she says. De-risking projects and incentivising investors The trouble is, funds for valuable research in rare diseases are scarce, largely because of the scale of the challenge. There are around 7,000

rare disease and, at the current rate of development, it would take around 800 years to develop treatments for all rare diseases. But, developing a drug for each would provide only a small market to generate returns on investment, because of the relatively low number of patients affected per disease. A different sort of model is needed to encourage drug development, says Dr Crombie. T h i s i s w h e r e s u p p o r t fo r translational research comes in: bridging the gap between ‘bench’ and ‘bedside’ (aka, the lab and the patient). Financing is not the only stumbling block in rare disease treatment development. The complexity of the work requires close collaboration from a number of partners. “It would be highly unusual for one party to have the necessary skills to take a basic science concept all the way through to a treatment,” explains Dr Crombie. “Translational research normally requires a number of different skillsets. It needs the biologist who understands science, the clinician who understands patient need, and experts who understand the

chemistry of the molecules under development and the experts to navigate the regulatory environment - t he l i s t i s ex ten sive. It ’s a multidisciplinary space, which is why we work with industry, academia, research organisations, etc.” The need for translational research Great Or mond St reet Hospita l Children’s Charity (GOSH Charity) and LifeArc have a joint funding scheme focused on helping GOSH researchers drive their discoveries towards new tests and treatments for childhood rare diseases. “Researchers based at GOSH and the UCL Great Ormond Street Institute of Child Health generate potentially lifechanging ideas through lab-based science,” says Dr Crombie. “The hospital also has world-leading clinical expertise and, of course, a unique patient group. Through this collaboration we can bring our additional expertise in translational research, to ensure more discoveries are ready for the next stage, bringing treatments and cures one step closer

to the children that need them.” Despite her optimism that things are changing in the field, Dr Crombie stresses that this is no time for complacency. “Licensed medicines are only available for around 500 of the known rare diseases,” she says. “This means that the vast number of rare disease patients receive no treatment at all. We have to do more translational research to move more potential drugs along the development pathway and ultimately provide treatments to people with challenging conditions. Otherwise some patients with rare diseases will die. It’s that real... and that simple.”


DR CATRIONA CROMBIE Head of Philanthropic Fund, LifeArc

Sponsored by

WRITTEN BY: TONY GREENWAY www.lifearc.org/funding/ philanthropic-fund/ LifeArc set up the Philanthropic Fund in 2017, which supports research with £10 million available for rare disease translational work. LifeArc’s charitable model means it is able to fund in this crucial research and ‘de-risk’ the development of a therapeutics project. In this way, it may also make the approach attractive to potential commercial partners as an investment opportunity to take it on to the next stage of development. © ROST 9-D

Acute myeloid leukemia is not a ‘one-size-fits-all’ diagnosis

Acute myeloid leukemia (AML) is an aggressive blood cancer that can quickly become life-threatening if left untreated. It is a complex disease that is not a one-size-fits-all diagnosis.


here are multiple sub-types of AML and it is important to be able to correctly identify and understand them. This insight can give patients and their healthcare professionals a clearer picture of why the disease occurred and what treatment options might be appropriate. For example, high-risk AML (which comprises nearly a third of all AML diagnoses) is associated with a high risk of the leukemia coming back. Sadly, patients with high-risk AML have few treatment options and some of the lowest survival rates compared to people w it h ot her forms of leukemia. This is why early diagnosis and intervention is so important.

AML treatment landscape is evolving Here is the good news – the treatment landscape for AML is evolving rapidly, a number of new medicines have entered the market in the United States and the European Union, where previously there were limited treatment options. Today, early identification of high-risk AML can be key to getting pat ient s t he most appropr iate treatment. A medical history and physic a l exa m i nat ion prov ide a p hy s i c i a n w i t h i m p o r t a n t information about risk factors and symptoms and signs of disease. Cells from the blood and bone marrow are taken and reviewed

to detect further abnormalities. This is done using blood taken from a patient’s arm and bone ma r row f rom t he h ip bone. Further tests are performed on a patient’s DNA to identify which specific abnormalities exist. This level of detail al lows for more tailored treatment approaches for AML patients. Up to one in 20 people will live with a rare disease Looking beyond A ML, building awareness of rare diseases is vital because as many as one in 20 people will live with a rare disease at some point in their life. With increased awareness around these conditions

WRITTEN BY: DR KELVIN TAN General Manager, Jazz Pharmaceuticals, UK & Ireland

there is also an increased likelihood of early diagnosis, resulting in earlier treatment inter vention when possible and research for treatment advancements. In AML, we’ve seen increased aw a rene s s le ad to add it ion a l treatment options and an understanding among physicians of the needs for early diagnosis and tailored treatment, and on this Rare Disease Day, we hope the same for other rare diseases as well. I n t he he a lt hc a re i ndu s t r y, we know there is always more work to do, wh ich i s why, at Jazz, we’ve never lost sight of the integrity, intellectual curiosity and commitment to continuous

evolution that has defined our culture from the beginning and why we continue to raise awareness for rare diseases, like AML.

Sponsored by

Find out more at https://www.jazzpharma.com/ about/global-footprint/uk-andireland/ HEALTHAWARENESS.CO.UK



Miss Deana Louise Shipgood before and after losing the weight she gained from Cushing’s. “The weight dropped off and I lost over 17 stone in five years.”

Crushed by Cushing’s but winning at life

We need to support front line services in rare disease

A benign pituitary tumour triggered Cushing’s syndrome, ballooning my previously fit and healthy Not long ago, it was typical for a patient with a rare disease to find themselves bounced between 12 stone body, to just under 30 stone. clinical pillars and posts for many years before they received a diagnosis – if they ever did. was 41, fit and healthy but – at Getting my life back has


12 stone – felt I needed to get leaner. So, I joined a slimming group, ate well and exercised five days a week with Zumba, boot camps and fight clubs. ‘This must work!’ I thought. But no, my weight climbed. Accusations of being a secret eater were levelled by my family, friends and personal trainer. Discovering Cushing’s and understanding the symptoms My sister, Jackie, developed a neck lump; they investigated for non-hereditary Cushing’s, which our mother died of at 49. Jackie said I had the symptoms: blinding headaches a ‘moon face’, a ‘buffalo hump’ (a lump of fat at the top of my back between my shoulders), upper body obesity but thin arms and legs, balding, high blood pressure and menstrual irregularities. I was now 29st 11lbs. I could no longer walk, let alone box. My son and dependent, Lewis, was only 12. My GP put it down to weight gain when, in truth, it was a sign and symptom of Cushing’s. Eventually, the GP made the diagnosis: a pituitary tumour. This had released excessive cortisol, causing Cushing’s syndrome and my ballooning weight. The diagnosis brought back painful memories of losing my mother and new fears that Lewis would suffer the same.

The pituitary tumour was removed through my nose Six hours of surgery removed the tumour through my nose, and I began my life-long steroid treatment. Lewis was – and remains – my rock. He cared for me in the early days, always looks out for me and will inject me in a crisis. If my cortisol dips too much, my body shuts down and I get blue lighted to hospital; a dozen times last year.


been rocky Back home I re-joined a weight loss support group. The weight dropped off and I lost over 17 stone in five years. Then, a setback; my malfunctioning pituitary caused excess bleeding and I gained back two stone. I needed a hysterectomy. I have loose skin, which rubs, causing infections due to a depleted and fragile immune system. But I’m back losing weight and just returned to Zumba, boxing and I’m looking for boot camps. My great team at UCL monitors me regularly. Surgery is scheduled to remove the excess loose skin – which weighs over a stone. I will be 49 in 2021, like my mother was when she died. I have paid for my 50th or my wake, whichever comes first. I am realistic but I am a fighter.

More Info The Pituitary Foundation is a national support and information organisation for pituitary patients, their families, friends and carers. We are the UK’s leading charity providing support to people affected by pituitary gland conditions such as acromegaly, Cushing’s, prolactinoma, diabetes insipidus and hypopituitarism. www.pituitary.org.uk 0117 370 1320 helpline@pituitary.org.uk

Sponsored by

WRITTEN BY: DR SHEULI PORKESS Executive Director of Research, Medical and Innovation at the Association of the British Pharmaceutical Industry


ecent advances in genomics, led by the 100K Genomes project are helping to change that picture. For example, one in four people in the project with a rare disease received a diagnosis, which increased to something like one in two in some conditions. That success is being built on through the NHS Genomics Medicines Service and the further expansion of one million whole genome sequencing. This means that genomic testing is rapidly becoming a routine clinical tool for rare disease conditions. We may not yet have solved the – sometimes turbulent – journey for every patient, but substantial progress has been made. Access to new, life-changing medicines There is good news on the research and development front, with increasing numbers of new medicines, including cell and gene therapies, being developed and licensed for rare conditions. There is also increasing focus on innovative clinical trial designs, which w i l l help prog ress t his research faster. However, as we leave the EU, it will be of vital importance to maintain – and ideally strengthen – our international collaboration to continue creating the medicines of the future. The question, however, is: ‘How do we get treatments approved quickly, taking into account the uncertain evidence base from which rare disease treatments inevitably stem?’ There is some good news here, too, with NICE currently reviewing the methods and processes used to assess medicines, hopefully with

an increasing focus on taking better account of rarity and unmet need. F ur thermore, the recent announcement of the new Innovative Medicines Fund in England should allow more treatments to be made available to patients earlier. There is a clear recognition that health technology assessment and commissioning systems need to evolve if patients are to truly benefit from rapid and routine access to these life changing treatments.

deliver a small set of specific, usually highly specialised services, while actually serving a much wider range of patients. Genomics leads us to better insights into the causes and treatments of rare conditions. However, it is probably unrealistic to envisage continuing to commission a myriad of individual national services against set service specifications. It is also unlikely there would be sufficient clinical expertise to deliver such services nationally even if we went down that route.

Dedicated specialist rare disease NHS centres are in place, but often these are only set up to deliver a small set of specific, usually highly specialised services We must support NHS services to keep up with rare disease diagnoses and treatments As things improve, we must ensure services keep up. The increase in rare disease diagnosis is welcome, but it is beginning to cause real pressures on an already overstretched NHS, that is not currently best configured to support the myriad of individual rare conditions that are now being presented. Many newly diagnosed patients are children, but an increasing number of adults in mid or even older life are now being diagnosed with a rare condition. This is hugely positive, but with the clinical expertise often concentrated within paediatric services, there is a real question on where these older patients go for treatment. Additionally, dedicated specialist rare disease NHS centres are in place, but often these are only set up to

So, we need an urgent debate on how best to evolve both front line service provision and commissioning and this must be a focus as we collectively develop the successor to the current UK Rare Disease Strategy over the coming year. Whatever follows, it has to chart a path to networked, sustainable rare disease services at scale, that can provide sufficient expertise for direct patient care and support, while supporting dedicated clinicians now and into the future. We are looking forward to being part of the conversation, for the benefit of the three million people in the UK with a rare disease.

Find out more at www.healthawareness.co.uk MEDIAPLANET


Wolfram syndrome - our journey Wolfram syndrome (WS) is an ultra-rare condition. About 90 people in the UK are affected. Many doctors have and never will see a person with WS.


My daughter was diagnosed with WS at the age of eight following three years of investigations. The condition seems to have started when Jennifer was about two and a half years old with coughing attacks, followed by vision issues, diagnosed when she was five. At the age of six she was diagnosed with Type 1 diabetes and a neurogenic bladder. At the age of 10, she had the second of two severe choking attacks in a year, which resulted in being on a ventilator for three weeks and then a ‘temporary’ tracheostomy being carried out. Eight years later this is still in place. At the age of 12 she was diagnosed with scoliosis and over the last three years she has developed short-term memory loss with her balance deteriorating so much that a wheelchair is sometimes needed. Around the age of six, she had the first of several sleep studies that showed she had central obstructive sleep apnoea. She would de-saturate for up to 13 seconds a time, up to 20 times in an hour, but never requiring any medical intervention. We have been told she has an extreme form of WS as everything has happened within the first 10 years of her life. Daily Life Jennifer never had a normal childhood as time was spent out of school at hospital and invites to friend’s houses and parties stopped from the age of six. Unlike her peers she can’t go out and get a part time job; drive a car; go out to a bar. Over the years she has received the necessary treatment and medication for the different parts of the condition she is affected by. She has five insulin injections a day, at least three tablets a day, one twice a day, and is now also on a ventilator at night along with any additional medications as required. In 2016, she was admitted to hospital seven times with either an upper respiratory tract infection or pneumonia. This is when the ventilator was first introduced and was used when required. In 2017, this became a permanent part of night time with a prophylactic preventative antibiotic prescribed for over the winter months. So far, this has helped. Jennifer is seen at the annual WS MDT Clinic in Birmingham and then has other medical appointments though out the year at our local hospital and hospitals in London, about 60 miles away. Since 2007, the beginning of our journey, we have seen almost every department in the hospital.

The future We know that a ‘sticking plaster’ treatment is being trialed to slow down or halt the progression but we need more researchers working together, sharing information to find an actual cure. The ‘sticking plaster’ gives those affected and their families hope that they might live longer than the expected average age of 30-40 years. The hardest part of the condition for those affected is the loss of vision – that is what every person with WS would like to see cured first. Other parts of the syndrome can be dealt with by medication, but vision loss is the hardest thing; no longer being able to do things easily for yourself when once you could is tough on everyone. As a parent, watching your child’s health and their condition deteriorate is really tough. I ask those working on this condition to listen to those affected. They are the ones living with the condition day in and day out. They know how they’re feeling and what they are having to cope with. Don’t just dismiss a symptom. See if anyone else is reporting the same, as there will be. Work with patient groups - they want to see success just as much as you. We’re continuously teaching doctors when we attend appointments or get admitted to hospital. Even the specialists at our MDT clinics are learning from us each time we attend. WRITTEN BY: TRACY LYNCH CEO & CO-FOUNDER, WOLFRAM SYNDROME UK

Sponsored by “I would struggle to say exactly what Almira’s conditions are as they are so extensive and complex. This is the other challenge we face because there is no other person in the world we know of with Amara’s combination of diseases. We are in no man’s land. It is hard, it is really, really difficult to cope with. The not knowing and my brain is constantly thinking about what is wrong with her, what is the right treatment, what is the right route to take because there is not anything to go by. There isn’t a protocol to follow like you would with a patient with a typical disease,” says Almira’s mother, Reena. MEDIAPLANET

Learn more at: www.wolframsyndrome.co.uk HEALTHAWARENESS.CO.UK



Profile for Mediaplanet UK&IE

Rare Diseases Q1 2020  

This Mediaplanet campaign launched on 28-Feb 2020. It was distributed with the Guardian newspaper and online at www.healthawareness.co.uk.

Rare Diseases Q1 2020  

This Mediaplanet campaign launched on 28-Feb 2020. It was distributed with the Guardian newspaper and online at www.healthawareness.co.uk.

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