Rare Diseases - Q3 2020

Q3 / 2020

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RARE DISEASES Full campaign on www.healthawareness.co.uk

Meet Iggy Iggy is 7 years old.

He has a condition called Trip 12.

Those affected by Trip 12 often have learning and speech difficulties and it is also linked with autism.

#ShowYourRare © C E R I DW E N H U G H E S/SA M E B U T D I FFE R E NT

I have days that are about accepting and being really grateful that he is exactly who he is. I think he’s just incredible, and that’s definitely a part of the genetic condition so in a weird way I’m also grateful for it.” ~Sarah, Iggy’s Mum (Journey of Hope, www.samebutdifferentcic.org.uk/journeyofhope)

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IN THIS ISSUE

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“Acknowledging that XLH is far more than rickets is just the first step toward better outcomes for patients’.”

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The effects of COVID-19 on the rare community COVID-19 has hit people living with rare conditions hard. They may be more vulnerable to infection, susceptible to greater severity of symptoms once infected and there is a risk that infection could trigger a deterioration of their underlying condition.

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~ Oliver Gardiner International XLH Alliance Chair, XLH UK

08 “Unfortunately, the patients who participate in clinical research are typically not a diverse representation of the actual population.” ~ Christian Rubio Vice President of Strategic Advancement, Global Genes

10 “The value of early diagnosis for a growing number of rare diseases is high.” ~ Nick Meade Director of Policy, Genetic Alliance UK Project Manager: Natalia Sanz Dawson E-mail: natalia.sanz.dawson@mediaplanet. com Business Development Manager: Kirsty Elliott Content and Production Manager: Kate Jarvis Managing Director: Alex Williams Head of Business Development: Ellie McGregor Digital Manager: Jenny Hyndman Designer: Thomas Kent Content and Social Editor: Harvey O’Donnell Paid Social Strategist: Ella Wiseman Mediaplanet contact information: Phone: +44 (0) 203 642 0737 E-mail: uk.info@ mediaplanet.com All images supplied by Gettyimages, unless otherwise specified @HealthawarenessUK

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Please recycle

Jayne Spink Chief Executive Officer, Genetic Alliance UK & EURORDIS Board Member

he impacts of COVID-19 have fallen heavily on the rare community. Shielding and self-isolation have amplified levels of isolation and anxiety ordinarily felt by many people living with rare conditions.

Efforts to contain COVID-19 built barriers to the daily basics of living as well as critical services such as health and social care, care at home, education and respite. Many individuals and families have been placed under immense pressure.

Preliminary figures published by Eurordis paint a distressing picture Across Europe, hospital units providing specialist care were closed, disrupting the care of nine out of 10 rare disease patients.

Of these, six in 10 report these closures as detrimental to health and three in 10 report these interruptions as either definitely or probably life-threatening.

One in five reported interruption to the supply of a medicine for their rare condition and more than half of those who needed surgery or transplant had these interventions cancelled or postponed. Delayed diagnoses, periods without treatment and therapies will all have significant impacts for months or years to come.

Charities need financial support to recover As charity finances suffer, so too will early stage studies into rare conditions and research careers that feed the pharma and biotech pipeline.

But there are some silver linings.

Firstly, during COVID-19, many rare

Rare Inspiration.

Changing Lives. alexion.com

disease patients had access to remote care or telemedicine for the first time.

Judiciously used, and properly integrated into care-pathways, telemedicine could help to relieve the burden of care coordination that has fallen to patients and families. This reduces expenses, disruption and effort of travelling to appointments, while providing easier and timely access to medical advice and monitoring that could significantly benefit clinical care and research.

We must hold onto the progression seen as a result of COVID-19 Secondly, we have witnessed a level of collaboration and regulatory innovation in the development of treatments and vaccines for COVID-19 that few would have imagined possible pre-pandemic.

These approaches and flexibilities could serve as a template for acceleration of development of orphan medicinal products, bringing hope to the estimated 95% of rare diseases for which there are currently none.

The greatest pity for the rare community would be to emerge from the pandemic to a restoration of the pre-COVID-19 status quo.

©IMAGE PROVIDED BY GENETIC ALLIANCE UK

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Codexis pairs up to take new treatments from discovery to market Effective partnerships between experts in protein engineering and drug marketers will result in better treatments for rare diseases reaching patients faster.

P Gjalt Huisman Senior VP, Strategic Development, Codexis

Paid for by Codexis

henylketonuria (PKU) is a genetic condition that causes intellectual disability when left untreated and treatment typically imposes a very restricted, life-long diet. New treatments stand to revolutionise outcomes for this condition as, by the time people with PKU reach adulthood, typically only 10% are sticking with the recommended, demanding diet. In an example of how collaborative thinking can benefit patients, protein engineering expert, Codexis, has teamed up with pharmaceutical marketing giant, Nestlé Health Science, to develop an oral treatment for phenylketonuria (PKU).

Getting treatments to rare disease patients sooner Another rare disease, Fabry disease, causes problems in the heart and kidney and, left untreated, can greatly reduce life expectancy. To generate a better treatment option for Fabry patients, Codexis is working with Takeda to generate better versions of the enzyme whose activity is missing in these patients, for

administration as gene therapy.

Dr Gjalt Huisman, Codexis senior vice-president, strategic development, and general manager of Codexis’ Biotherapeutics business, says: “Unfortunately, there are many rare diseases where there is either no treatment, or if there is, they may not be all that efficacious.” Teaming up with leading pharmaceutical companies, means that Codexis’ drug discovery engine can bring more, and more effective treatments to market, and sooner.

Building and replacing missing enzymes for patients There are ~ 6,000 different hereditary rare diseases, which means that they are caused by genetic changes. Codexis’ focus is to develop new drug candidates that are best- or first-in-class for disorders with, currently, suboptimal treatments. Candidates for novel enzyme therapeutics may also include treatments for non-hereditary indications, for instance gluten and other gastric intolerances, which also demand strict, life-long dietary adherence.

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Teaming up with leading pharmaceutical companies, means that Codexis’ drug discovery engine can bring more, and more effective treatments to market, and sooner.

Dr Huisman explains: “If a vital enzyme is missing or dysfunctional, harmful chemical molecules can start to accumulate in the body, and this can create havoc.” In the sphere of gene therapy, the focus is on developing an optimally-functioning replacement for a dysfunctional or absent gene.

Codexis’ focus in the Biotherapeutics world is two-fold: locally-administered enzyme therapeutics and gene therapies.

These therapeutics involve replacing non-functional enzymes in the body, with functional ones, to ensure that the chemical processes in the body can proceed unencumbered. Dr Huisman says: “This is a rapidly developing field, with an improving safety and efficacy record and in-market experience for treating such disorders; however, better treatments continue to be needed to truly improve patients’ quality of life.”

Written by: Alisa Colquhoun

Clinical & Patient Registries OpenApp develop patient registries for patient reported and clinical data. Our platform has been configured for many therapeutic areas, generating Real World Evidence to support advocacy, research, and pharmacovigilance.

Contact us to see a demo and speak to a representative.

@OpenappIreland

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Patients with X-Linked Hypophosphataemia need early and life-long multidisciplinary care

Oliver Gardiner Chair, International XLH Alliance Chair, XLH UK

©REBECCA GARDINER - CLINICAL PHOTOGRAPHER

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etter understanding of X-Linked Hypophosphatemia (XLH) establishes the importance of multidisciplinary treatment of patients of all ages, not just children.

Until recently, XLH, a rare and life-long phosphate-wasting disorder, has been poorly understood, with limited treatment options.

Fortunately, with improved understanding and a promising new treatment, patients have the potential, regardless of age, to experience much healthier, happier lives.

Background XLH occurs in approximately one in 20,000 births.

It is inherited in an X-linked (located on the X chromosome) dominant pattern although it can also occur from spontaneous mutations. Because of the genetic transmission, diagnosing the child of a parent with XLH is relatively simple. Diagnosis of children with spontaneous mutations can be delayed, potentially limiting the effectiveness of treatment, since the sooner the condition is treated, the better the results. The most obvious symptom of phosphate wasting in children is the bowed legs associated with rickets. In fact, parents of a child with XLH are often stigmatised by the public, because the condition looks like the rickets, which is associated with malnutrition.

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The sooner the condition is treated, the better the results.

Improved understanding of XLH Historically, XLH was considered purely a paediatric disorder, and treatment of adults was controversial, so, many adults went without treatment until they were severely disabled. And even then, there weren’t safe, effective treatment options.

Recently, however, with the help of patients and patient-advocates like the organisation, XLH UK, the nature and severity of adult symptoms have been documented, establishing the need for ongoing treatment for the patients’ entire lives.

It’s now known among the experts (but not yet as widely disseminated as it should be) that adults with XLH no longer have rickets, but experience the same bone pain as children, and in addition, adults experience osteomalacia (soft bones), widespread enthesopathy (calcification of tendons and ligaments), osteoarthritis, pseudofractures, muscle dysfunction, hearing loss, and debilitating fatigue.

Since XLH is a whole-life, whole-body disorder, it is important for both paediatric and adult primary care physicians to understand the need for multidisciplinary care. The new treatment for children has recently been approved for adults by the European Medicines Agency, so referral to an endocrinologist, regardless of the patient’s age, is absolutely critical to a good outcome. In addition, patients, at various times in their lives, will need a combination of several health care providers, including primary care, orthopaedists, dentists, physiotherapists, and occupational therapists. Referral to these specialists is critical to healthy lives.

©IMAGES PROVIDED BY XLH ALLIANCE

In the past, the vast majority of treatment was focused on straightening and strengthening the paediatric patients’ legs, while ignoring the many other consequences of inadequate phosphate levels, including bone pain and muscle pain/weakness.

Clinicians who believe that only the rickets need to be treated fail to address the other issues. This may lead to life-long harm to the patient, and the resulting reduced ability to live a happy life.

A new treatment is available that addresses the root cause of the phosphate-wasting, leading to better mineralisation of paediatric patients’ bones and teeth as well as reductions in other symptoms like pain and muscle weakness. The hope is that these stronger, straighter bones will be far less likely to require invasive surgeries in childhood to straighten the bones or additional corrective orthopaedic surgeries later in life, since in the past, those surgeries often led to a lifetime of chronic pain.

XLH is far more than rickets – future treatment must acknowledge that Acknowledging that XLH is far more than rickets is just the first step toward better outcomes for patients.

There’s still much more work for experts and patientadvocates to do. In particular, international evidencebased treatment guidelines, developed by expert multidisciplinary clinicians in collaboration with patients, are desperately needed to ensure consistency in care and best possible outcomes for all patients at all ages. Easily accessible, reliable information on the disorder should also be provided to patients to avoid assumptions or outdated knowledge.

The International XLH Alliance, an expert patient group network, has taken the collaborative approach of gathering smaller, country-specific patient organisations like XLH UK to work together to address some of the remaining challenges XLH patients face, regardless of their geographical location.

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Call to action to improve patient care pathways in rare disease XLH With understanding comes hope for the one in 20,000 people with X-linked hypophosphatemia (XLH) – and the next step is building and improving the health services they need to live well with their condition.

There’s a real unmet need among these patient populations, so it’s critical that we keep working in this space and to meet the needs of people living with rare and underserved diseases.

XLH, which is hereditary, is debilitating on many levels.

Devastating physical and psychological impacts on children Now that more is known, the XLH community is calling on healthcare systems to provide faster routes to diagnosis and more joined-up care for those who need it.

Children with the condition start to display clinical manifestations of XLH in early childhood when they start to stand or toddle and the soft leg bones bend under their weight.

They are more prone to fractures, experience frequent dental abscesses and can even suffer from hearing loss.

©ULKAS

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ithout joined up, holistic care, people living with XLH can end up “suffering in silence”. A recent survey among patient advocacy groups lamented the lack of co-ordination of care/ communication between different specialists in this condition. They called for improvements of how children and adults are managed in healthcare systems around the world. The metabolic bone disorder, characterised by excessive loss of phosphate in the urine, is one of more than 7,000 rare diseases and affects around one in 20,000 people worldwide.

“XLH, which is hereditary, is debilitating on many levels,” says Sajid Babariya, VP Franchise Head at Japanese pharmaceutical company, Kyowa Kirin.

“It is devastating, but until relatively recently, we didn’t know much about it,” he says, explaining that phosphate was essential for many body systems, including developing and maintaining healthy bones, muscles, and teeth.

It’s only over the last 25 years that the molecular reason for excessive phosphate loss and the genetic defects that cause it were discovered. Now we are uncovering the multiple clinical outcomes due to low phosphate in children and adults and the detrimental impact this condition is having on patients and their families.

The XLH community is calling on healthcare systems to provide faster routes to diagnosis and more joined-up care for those who need it.

“They are short in stature and they can’t walk straight, they have lots of pain and they can’t keep up with their peers in terms of running, walking and playing,” said Sajid.

“As they get older, they want to do the same as their friends and look “normal”, but they can’t. Many become withdrawn and isolated — the impact is psychological as well as physical, with many children reporting that they are bullied throughout their young lives.”

Adults with the condition suffer frequent pain, stiffness and fatigue, and joint problems such as osteoarthritis and osteomalacia as well as dental and hearing issues.

What’s more, due to the genetic nature of the disease, they face the agonising decision of whether or not to have children.

“Somebody described it as being a 20-year-old stuck in a 50 or 60-year old’s body,” said Sajid.

Diagnosis invariably comes late Its rarity means primary care physicians do not tend to recognise XLH, and may treat affected children for nutritional rickets, which may appear to have similar bone involvement, and fractures. This can go on for years without a physician making the connection, said Sajid.

After diagnosis, a patient needs input from a multi-disciplinary

team (MDT) of healthcare professionals — doctors, nurses, physiotherapists, mental health specialists, and dentists — but this doesn’t happen nearly enough.

“XLH patients need a team of people who understand their condition, the burden it has upon them – including the psychosocial impact – and how to treat them,” said Sajid.

Astonishing progress – XLH patients must re-engage with healthcare services Thanks to recent advances in XLH understanding, there are now management options that simply didn’t exist before, he went on.

“A lot of people were told there was nothing more that could be done for them when they moved from paediatric to adult services.

They have been suffering in silence ever since.”

“We now need to reach out to those people and ask them to re-engage with healthcare services that exist as more can be done now,” said Sajid.

With the right combination of early diagnosis, MDT care and holistic management, there is now fresh hope.

“It’s so important to keep people with rare diseases informed of scientific and medical progress, if not, it’s like they are being left behind. There’s a real unmet need among these patient populations, so it’s critical that we keep working in this space and to meet the needs of patients living with rare and underserved diseases,” says Sajid.

Written by: Amanda Barrell

Sajid Babariya VP Franchise Head, Kyowa Kirin

Paid for by Kyowa Kirin

Read more at international. kyowa-kirin.com KKI/INT/BUR/0660 Date of preparation Sep 2020

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Supporting the development of rare disease R&D in Europe

Paid for by EFPIA

Support for European legislation on orphan medicines, coupled with better collaboration among stakeholders, will improve access to treatment for patients with rare diseases.

I Nathalie Moll Director General, European Federation of Pharmaceutical Industries and Associations (EFPIA)

n normal times, rare diseases don’t always receive a high level of attention from the medical community. But, during the COVID-19 pandemic, it can seem that rare disease is even further down the agenda. “An incredible amount of attention has understandably been dedicated to COVID-19,” says Nathalie Moll, Director General of the European Federation of Pharmaceutical Industries and Associations (EFPIA). “This has had an impact on those living with other health conditions, including rare diseases.

Throughout the crisis, pharma companies have worked tirelessly to ensure the continuity of clinical trials in extremely challenging circumstances.”

But delays in access to orphan medicines are not a just a result of the COVID-19 crisis. “There has been a disparity of access for a number of years,” says Moll. “It is not a COVID-19-related issue.”

Still, in the age of the coronavirus – and with around 30 million

Europeans living with some form of rare condition – delivering new diagnostics and treatments for people living with rare conditions is more pressing than ever.

A two-pronged approach to improve treatment access “For 95% of rare diseases, no treatment exists,” says Moll. “So there are two areas of critical importance. Firstly, we need to discover, develop and deliver more innovations and treatment options for people with this unmet medical need.” One way of doing this is to support the existing European legislations on orphan medicines and paediatric medicines. Before the orphan legislation came into force in 2000, just eight treatments were licensed for use to treat rare diseases. Now there are 169.

“Having stable regulation in place inspires and drives investment in rare disease research,” notes Moll.

Secondly, where a new treatment option becomes available, all patients must be

30 million Europeans living with some form of rare condition – delivering new diagnostics and treatments for people living with rare conditions is more pressing than ever. assured of access to it. “No one part of the healthcare equation can fix this problem,” says Moll.

“We need to get all stakeholders around the table to discuss it, which is why we’ve called for a High-Level Forum – including EU and national decision-makers, patients, healthcare providers and new treatment innovators – to understand the causes of delay and outline potential solutions. If we do both of these things, we can make a real difference to people with rare diseases.”

Read more at efpia.eu

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Sponsored by Inceptua

Orphan Drugs – median time to availability (2015 - 2018) From a commercial perspective, it makes sense for companies to prioritise those markets where either the number of potential patients is largest, or where they know they are more likely to gain approval for their desired price for the medicine. Conducting multiple ongoing pricing negotiations across all European countries concurrently is beyond the scope of most companies, given the complex requirements of the reimbursement process.

Figure 1. The time to availability (previously know as length of delay) is the days between EMA marketing authorisation and the date of availability to patients in European countries (for most this is the point at which products gain access to the reimbursement list*).

Helping get orphan drugs to patients quicker Across Europe there is disparity in the average time for new drugs to be approved and accessible to patients. There a number of factors delaying these processes.

Read more at inceptua.com

centralised EMA approval and in-country commercial availability varies from 39 days in Germany to 1,236 days in Poland – Figure 1.

In France, the delay is over 500 days, while in Italy, the delay is over 300 days and over 400 days in Spain. This means that a physician in Germany can have access to a medicine, which they can prescribe for a patient, while a physician a few miles over the border in France could face a wait of considerably longer than a year before they can prescribe that same medicine for their patient.

These delays are longest for medicines for rare diseases, based in part on the fact that they tend to be higher priced, and the fact that the evidence base for their use can be smaller, due to the issues with finding sufficient patients to generate meaningful data in clinical trials. These factors can contribute to the protracted process of agreeing a price.

Country approvals can take a long time The European Federation of Pharmaceutical Industries and Associations (EFPIA) and IQVIA published a patient WAIT indicator, which shows the average time from centralised EMA approval until a medicine is available for prescription/sale in each country in Europe.

The disparity is startling. For an orphan drug, the delay between

Country approval times reflect more than bureaucracy Although the delays from EMA approval to in-country availability can be extensive, they do not necessarily reflect the process itself in any one country. A large component of these delays is driven by companies’ launch sequencing and commercial prioritisation, often driven by external price referencing considerations.

Stuart Bell Vice President Consulting, Inceptua

©ROMAN VALIEV

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rugs are approved in Europe, initially through the European Medicines Agency (EMA) and subsequently through each country’s individual process.

Through this process, a decision is made as to whether or not to allow that medicine to be made commercially available in each country. The price the authorities are willing to reimburse the company for that medicine per patient, are also confirmed.

Typically, a pharmaceutical company will initially seek centralised EMA approval for a marketing authorisiation. This approval, if granted, demonstrates that the EMA believes that the medicine is safe and effective and can be sold within Europe.

However, it does not agree on, or decide the price of the medicine.

Manufacturers must still negotiate over price with each country on an individual basis.

Patients and physicians want immediate access Regardless of the reasons underlying these delays, patients and physicians want access to promising new medicines as soon as possible. Thankfully, most countries in Europe have put legislation in place that allows a patient to access a medicine prior to it being reimbursed and available for prescription in their country of residence.

Patients and physicians want access to promising new medicines as soon as possible.

There are many terms for this approach to medicine provision – early access, compassionate use, named patient etc. – but they are all pre-approval access pathways. Given the fact that many companies are now focussing their research on rare diseases, we are seeing a lot more use of these pathways by manufacturers. By and large these pathways are clear and readily navigable, but greater alignment between countries on these processes would help patients, physicians and drug manufacturers alike.

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The need for diversity in clinical trials

The pandemic disrupted life – but could rare disease research be better for it?

COVID-19 changed life as we know it. For rare disease patients, it opened doors.

C Christian Rubio Vice President of Strategic Advancement, Global Genes

linical research gives scientists the opportunity to develop life-changing – and in some cases, lifesaving – medical treatments.

Unfortunately, the patients who participate in clinical research are typically not a diverse representation of the actual population; varied ethnicities and age groups are rarely fully represented.

Typically, white males are the demographic who are most commonly enrolled in clinical trials.

Typically, white males are the demographic who are most commonly enrolled in clinical trials. That means that resulting medications and treatments that are developed may not be equally safe and effective for all populations. For patients with rare diseases, who are already in a very small demographic, it’s even more challenging.

©SHIRONOSOV

An unlikely change agent COVID-19 disrupted life around the world, but it may have also helped shine a bright spotlight on the need for diversity in clinical research – and highlighted some solutions. As COVID-19 emerged, the Food and Drug Administration quickly issued guidance so clinical research could continue, allowing more remote monitoring and decentralised or virtual trials.

“This means that more patients are able to access clinical research,” explained Christian Rubio, Vice President of Strategic Advancement at Global Genes, a rare disease patient advocacy organisation. “They can access telemedicine, virtual trials, and use mobile devices for data capture, for example. For rare disease patients and their caregivers, this can open opportunities for them to participate in clinical research that they may not have otherwise been able to.”

Increased opportunities for data capture will improve diversity in representation As the pandemic lifts, the question becomes: will the industry revert back to older models? Fortunately, this shift has focused attention

For rare disease patients and their caregivers, this can open opportunities for them to participate in clinical research that they may not have otherwise been able to. more closely on the patients at the centre of the research model.

Trial protocols will be expected to promote patient centricity, opening opportunities for more patients than ever before to participate in clinical research and experience the benefits of cuttingedge science and care options.

There are also more opportunities for development of technology, particularly data capture, as patients participate remotely via wearable devices or home health care providers. “The increased access will give more opportunities to wider populations,” Rubio said. “That could bring about the change we need to increase diversity and inclusion, find cures, and bring hope to more people around the world.”

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The “ticking time bomb” of ultra-rare heart condition When the world went into COVIDinduced lockdown, people with rare diseases like HoFH were left worried and confused – until the community rallied round to support them.

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H

omozygous familial hypercholesterolemia (HoFH) is an ultra-rare form of a very common, genetic condition, called Familial Hypercholesterolaemia (FH), which compromises the body’s ability to remove LDL, or “bad”, cholesterol from the blood. This leads to strokes and heart attacks if not diagnosed and treated. As such, COVID-19 and the world’s response to it has exacerbated the situation due to diversion of healthcare services and priorities.

“It’s a lifelong condition that people are born with. Left untreated, patients start to experience cardiovascular events such as heart attacks or strokes by the age of 10 to 12. If left untreated, life expectancy is 18 years and even with treatments such as statins and apheresis the mean life expectancy is 48 years,” says Joe Wiley, CEO of Amryt Pharma.

While treatments are available, many people have been unable or too scared to go to the hospital during the SARS-CoV-2 pandemic, so, many patients have been unable to access care.

The Network hosted the first of a series of video calls aimed at bringing the whole community together – national FH advocacy groups, patients, healthcare professionals and pharmaceutical companies – together on March 11.

From this group, they developed a set of recommendations of best practice for FH and HoFH care during the pandemic that have been published and made available. These have been successfully leveraged by some countries with their healthcare leaders and policymakers.

The calls also discussed how heart attacks and strokes around the world had increased, yet cardiac wards were sitting empty.

“One of the impacts of COVID-19 on the FH community is that fear has stopped people seeking medical help in emergency situations,” explained Magdalena, adding that the international “When Your Heart Says So Just Go” campaign, organised by FH Europe and the Global Heart Hub, urged patients and public to seek medical help immediately, when experiencing symptoms of a heart attack or stroke, and explained the consequences of not doing so.

The group hosted the first of a series of video calls aimed at bringing the whole community together – fellow advocacy groups, patients, healthcare professionals and pharmaceutical companies.

©FIZKES

Without diagnosis and treatment, she says, individuals with HoFH are walking, ticking time bombs.

Left untreated, patients start to experience cardiovascular events such as heart attacks or strokes by the age of 10 to 12”

Magdalena Daccord, Chief Executive at FH Europe, says: “Unfortunately, during COVID-19 the healthcare system priorities dramatically changed. Suddenly people were not being tested or diagnosed for FH. Treatment such as apheresis has been delayed or even stopped in some countries.

“The fear of contracting the virus stopped lots of people from going into hospital for their therapy. And the consequences of that for HoFH patients could be very serious – even fatal. Without diagnosis and treatment, she says, individuals with HoFH are walking, ticking time bombs.”

Building HoFH treatment guidelines for policymakers during lockdown Helping people through this has been the top priority of organisations such as FH Europe.

Learning from a crisis “The success of projects like #JustGo, which was translated into 14 languages, is testament to the power of collaboration,” says Ken O’Reilly, Global Head of Patient Advocacy and Government Affairs at Amryt Pharma.

“We have achieved so much through these very honest forums,” he says. “It all starts with a very healthy, transparent dialogue.”

Magdalena, Joe, and Ken agreed that this model, of the whole FH community coming together to identify and meet unmet patient needs, should continue.

“Winston Churchill once said, ‘never waste a good crisis’. And this crisis has allowed us, as patients, to be more daring, to go out to the industry or other societies and say: ‘it’s time to collaborate’,” says Magdalena.

“Our next milestone is FH Awareness Day on 24 September when we will leverage the Global Call to Action recommendations including those for HoFH.” Written by: Amanda Barrell

Joe Wiley CEO, Amryt Pharma

Magdalena Daccord Chief Executive, FH Europe

Ken O’Reilly Global Head of Patient Advocacy and Government Affairs, Amryt

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High time for fresh thinking on newborn screening The UK lags far behind many European countries in how many conditions we test babies for at birth. At present, Italy screens for 43 conditions, the Netherlands 34, Australia 28, while the UK screens for 9, Spain 7, Ireland 6, and France 5.

Nick Meade Director of Policy, Genetic Alliance UK

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The potential benefits aren’t being prioritised enough So why are so few conditions screened for at birth in the UK? Recommendations on newborn screening programmes are made by the UK National Screening Committee, who weigh the potential benefits against the potential harms. One reason the UK lags behind is that, in comparison to other nations, the UK is either valuing the benefits less, or assessing the harms to be greater, or both.

We’re becoming used to COVID-19 affecting everything – this topic is no different. The Secretary of State for Health announced in August that Public Health England is to be broken

up to form the National Institute for Health Protection, with other prevention related activities of the organisation to be organised in a different way. It is too early to know how this might affect the UK National Screening Committee, and whether this may accelerate or delay change and progress.

Newborn screening allows affected children to receive appropriate care and treatment as early as possible, and often before symptoms appear.

Early diagnosis of rare diseases must remain priority Regardless of which Government agency runs screening, if the UK’s approach is to change, the weighting of the risks and benefits of newborn screening must shift. The rare disease community’s view is clear.

The value of early diagnosis for a growing number of rare diseases is high and disproportionate weight is given to potential, rather than evidenced, risks.

The public holds the answer.

To find the appropriate path for the future of newborn screening in the UK, we need to know the view of an informed public on the balance between the benefits and harms of newborn screening. How much of an impact does a false alarm have, compared to the value of knowing early about a potentially life-limiting condition?

Elaine Banks & Mike Funnell patient pictures

©IMAGES PROVIDED BY UK PITUITARY FOUNDATION

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arly intervention is crucial.

Newborn screening allows affected children to receive appropriate care and treatment as early as possible, and often before symptoms appear.

Such early interventions can save lives and slow or prevent disease progression and families are spared a rare disease diagnostic odyssey, which can last years.

The early diagnosis of an affected child has the added benefit of supporting family planning, providing couples with the opportunity to exercise reproductive choices if they wish to.

In the absence of a treatment, screening can build a platform for research. Comprehensive registries can be built with the high identification and diagnosis rates that screening delivers.

This allows our understanding of rare conditions to grow, facilitating research that can lead to future treatments.

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Adrenocortical cancer

support and information

Paid for by HRA Pharma Acc Support uk

This article has been commissioned and fully funded by HRA Rare Diseases.

HRA RD have reviewed the content for medical accuracy only. The narrative and views expressed are the authors own.

Why there should be more awareness of Cushing’s syndrome Spontaneous Cushing’s, originating from within the body is rare, but occurs when too much of a hormone called cortisol (the body’s natural steroid hormone) is made. If the source of the problem is the pituitary gland, then the correct name is Cushing’s disease. Whereas, if it originates in the adrenal gland or anywhere else in the body, then the correct name is Cushing’s syndrome.

Two people reveal their life-changing experiences.

Elaine Banks

Mike Funnell

What were your symptoms?

I gained around six stone and developed a round, red face.

I wasn’t able to sleep and had chronic fatigue. I was breathless upon exertion, or even just walking upstairs.

When were you diagnosed?

I was 28, but symptoms first appeared when I was about 16.

These included extreme fatigue, weight gain around my middle, a round face with red cheeks, insomnia and depression.

Did diagnosis take a long time?

Yes. I’d had Cushing’s for probably 10 to 12 years without knowing it. The trouble was that clinicians treated all my symptoms — including diabetes, high cholesterol and high blood pressure — as separate entities.

Much later, one doctor considered them all together and suspected Cushing’s. When diagnosis finally came, I could have jumped for joy because I at least knew what the problem was. I had an operation to remove most of the tumour in my pituitary gland and five weeks of radiotherapy. A year later, I went into remission.

How does Cushing’s affect you?

I’ve had three surgeries to remove the majority of the tumour from my pituitary gland, and I’m now in remission. But it’s been tough. There have been some small improvements in my blood pressure and weight but I’ve now been diagnosed with gout, infertility, low testosterone, thinning of bones and an underactive thyroid. I was a care worker, but Cushing’s has forced me to change jobs — although I’m lucky my current employer is so supportive.

How does the condition affect you?

Life is still challenging. I’m unable to work due to fatigue, and I have to pace myself and not do too much. Thank goodness for the Cushing’s UK group on Facebook, where 1200 members share their own experiences and offer each other support and advice. I believe it saved my life.

Is there enough understanding of Cushing’s?

Not in my experience. It took a decade or so for someone to work out what was wrong with me.

Now I know that I’m not just “fat and lazy”, which some doctors have intimated in the past. There needs to be more awareness and info about Cushing’s, for medical professionals and the public.

Acc Support uk

Mike Funnell Patient

Written by: Tony Greenway

Written by: Tony Greenway

Acc Support uk

Effective support and information for ACC is essential

Adrenocortical cancer (ACC) is an ultra-rare cancer of the adrenal gland cortex, affecting fewer than two people per million each year. A new test was recently developed that should improve diagnosis.

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CC is an extremely rare whose sense of desperation at the and often aggressive lack of support for the ultra-rare cancer in the outer layer adrenal cancer community was (cortex) of the adrenal palpable, the Association for gland, affecting one to two people Multiple Endocrine Neoplasia per million per year. ACC in adults Disorders (AMEND) agreed a tends to occur in people in their collaboration with Neuroendocrine 50s and 60s and is more common Cancer UK (NCUK) in order to in women than in men. share their resources for the Most ACCs are sporadic benefit of ACC patients. Between (meaning that they do not run in us, ACC patients receive free families), but they may sometimes information resources written be part of a congenital (present in straightforward language, at birth) and/or familial (passed and a variety of support services, down in families) including access to condition. a professional and The cancers can free counselling be functioning service.

The lack of centralised (producing care and access to only hormones) or The future for a small number of clinical non-functioning, ACC patients trials compounds the with symptoms A group of problem in ACC. being wide-ranging international from excess researchers facial or body hair in women or led by Professor Wiebke Arlt soreness and increase in the size (Birmingham) have recently of the breasts in men through developed a new urine test to to pain, swelling or weight loss, identify ACCs earlier than ever respectively. before and save lives.

Nevertheless, prognosis In the UK, care for ACC is generally poor, due to late patients is due to be centralised diagnosis and a lack of effective as part of the National Specialised treatments. The lack of centralised Commissioning initiative. ACC care and access to only a Support also developed a set of small number of clinical trials patient experience videos to help compounds the problem in ACC. patients better understand their disease. Patients shared their stories How ACC Support got started of diagnosis, treatment, and living After being approached at a with ACC, providing a poignant medical conference by a surgeon insight into this rare cancer.

Mrs Jo Grey CEO of AMEND (Association for Multiple Endocrine Neoplasia Disorders) (Right)

When diagnosis finally came, I could have jumped for joy because I at least knew what the problem was.

Elaine Banks Patient

Adrenocortical cancer support and information

Catherine Bouvier CEO & Co-Founder, Neuroendocrine Cancer UK, President, International Neuroendocrine Cancer Alliance (Left)

UK/ENDO/0056

Date of prep September 2020

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Rare diseases: making the unseen seen Contrary to the isolation of lockdown, a vibrant and vital new collaboration emerged. Action for Rare Disease Empowerment (ARDEnt) is a cross-sector coalition of 30 UK-based experts involved in rare diseases.

Jo Balfour Managing Director, Cambridge Rare Disease Network (CRDN)

Rebecca Stewart CEO, RARE Revolution Magazine

Dr Lucy McKay CEO, Medics4RareDiseases

Prolonging the ‘diagnostic odyssey’ Rare disease diagnosis is long and arduous, averaging over five years.

Primary care’s one-problem-ata-time and secondary care’s onebody-system-at-a-time approaches are rarely compatible with these complex diseases. Patients are bounced in a game of medical ping-pong between specialists until a someone looks holistically and takes charge.

With health services being stripped back as a response to the pandemic, the former status quo will potentially be more desirable than the ‘new normal’ for rare disease diagnosis. ARDEnt is examining how the pandemic has exacerbated the problem of diagnostic delay. Something we can ill afford when ~75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday.

However, opportunities have also opened up because of the pandemic, such as reduced communication barriers between specialties and more information sharing. ARDEnt wants to harness these to change the outlook for rare diagnosis.

Confusion, cancellation, and silver linings for coordination of care For patients with rare diseases, the pandemic brought anxious waits for confirmation of their risk level and shielding letters, followed by cancellation of vital services.

Essential in-patient treatments, physiotherapy, day care and home care support were halted.

Additionally, the Coronavirus Act suspended legal duties to provide support for children with special educational needs and families of children with rare conditions found themselves grappling with home schooling and care needs alone.

As health, social care and education services begin to return to the “new normal”, ARDEnt are finding some services, vital to the wellbeing of families and patients affected by rare disease, facing delays and no clear directives for restarting.

Amidst the challenges there are opportunities. For those with Autism Spectrum Disorders, the slower pace of life and reduced crowds have been beneficial.

Also, the overnight adoption of telemedicine has demonstrated its benefits and limitations for the future of healthcare.

Entering a new virtual reality Patient groups have long challenged the traditional drug development timeline and methods that don’t work well for rare disease patients who are, often few, widely spread and are running out of time with progressive diseases.

ARDEnt’s investigations show that COVID-19 has further damaged a fragile system with research studies, clinical trials and drug development projects postponed or cancelled. But there is hope.

Could new methods translate into more effective, efficient outcomes allowing for a continuation of services in a future crisis?

Remote signing of consent forms and remote audits: monitoring health through wearables; telehealth; deploying specialist nurses to collect bloods; and posting oral drugs – this pandemic has led to an almost overnight digital health revolution and a rethinking of how we can develop drugs when there is a time imperative. A precedent has been set and it is imperative these lessons are highlighted and adopted for the benefit of rare diseases.

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oncerned at the impact of COVID-19 on those affected by rare diseases, three leaders replaced isolation with collaboration. The ARDEnt team was assembled

by Dr Lucy McKay - CEO of Medics4RareDiseases, Jo Balfour - Managing Director of Cambridge Rare Disease Network and Rebecca Stewart - CEO of Rare Revolution Magazine, building an expert cross sector group; from patient advocacy professionals, datamanagers, academics, healthcare and industry.

ARDEnt is united in their goal to bring benefit. By exploring how people affected by rare conditions may have been disproportionately negatively impacted by the COVID-19 pandemic, they hope to plan for a better response to future crises and improve the rare disease patient journey, post COVID-19.

The team’s investigations illuminate examples of creative adaptability that could be utilised more widely in future.

A report outlining findings and recommendations from ARDEnt’s ‘Making the Unseen Seen’ project will be shared with government in hope of influencing the UK Rare Disease Strategy 2020 creation and implementation.

75% of rare diseases start in childhood and ~30% of those with a rare disease die before their fifth birthday.

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Be aware of the signs and symptoms of mastocytosis Mastocytosis may present as a skin condition – but patients with the disease are at increased risk of anaphylaxis, while its systemic form can be serious and, in some cases, fatal.

W Jess Hobart Co-Chair, The UK Mastocytosis Support Group

Emma Morgan Patient

hen she was 15, Emma Morgan noticed a small lesion on her leg. Initially, she was diagnosed with a skin condition, but soon began experiencing fatigue, nausea and bone pain and her lesions multiplied.

It was only years later, after a chance referral to a haematologist and a bone marrow biopsy, that Emma was finally diagnosed with mastocytosis, a rare disease which, depending on its severity, can be relatively benign, disabling, or even fatal.

In mastocytosis, mast cells – allergy-related cells in the immune system – proliferate and accumulate in one or more organ. In cutaneous mastocytosis, this is limited to the skin; but in systemic mastocytosis, mast cell accumulation can affect, for example, the gastrointestinal tract, lymph nodes, liver and spleen, and bones. Emma was diagnosed with

the indolent – or slow-growing – form of systemic mastocytosis, where the burden is chronic and episodic but life expectancy is normal (the aggressive systemic condition can have a poor prognosis). While most children are diagnosed with cutaneous mastocytosis, most adults develop the systemic disease.

Mastocytosis patients must carry EpiPens at all times Looking back, Emma is amazed that there is so little understanding of mastocytosis among the medical profession. “It was only because my haematologist knew about it that diagnosis was confirmed,” she says. “It’s a disease which has dramatically affected my life.

Sometimes it is more manageable.

At other times I can’t even walk upstairs without pain.” She takes medication to try to reduce symptoms, but knows there’s no cure. She estimates she now has

thousands of lesions across her body.

It’s vital that patients with mastocytosis receive a quick diagnosis, because they are at increased risk of anaphylaxis, which can be life-threatening, says Jess Hobart, Co-Chair of The UK Mastocytosis Support Group. “So, it’s essential they carry two EpiPens with them at all times,” she says.

Jess agrees with Emma that there needs to be more joined up clinical thinking for better patient outcomes. “For example, we often find that patients who present to a dermatologist aren’t asked if they have mastocytosis symptoms such as cramping, diarrhoea, too much stomach acid, or if their bones hurt.

Clinicians need to think about all of the body and not just their specialist areas.”

Written by: Tony Greenway

Read more at healthawareness. co.uk

At Blueprint Medicines, we have one common goal: to improve human health.

With a focus on genomically defined cancers, rare diseases and cancer immunotherapy, we combine our leading expertise in protein kinases with a uniquely targeted, scalable approach to empower the rapid design and development of transformational medicines.

Blueprint Medicines and associated logo are trademarks of Blueprint Medicines Corporation. © 2020 Blueprint Medicines Corporation.

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Drug repurposing is bringing hope to rare diseases

Restarting research for rare conditions post-COVID-19 is essential The word ‘unprecedented’ has been overused this year, but it is still the most appropriate to describe the impact that COVID-19 has had on clinical research in 2020.

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n order to get COVID-19 research up and running in the face of a pandemic, COVID-19 research studies were prioritised – a decision that, unfortunately, has had an impact on research on other diseases, including rare diseases.

Creating safe environments to keep research moving One key thing is the need to create safe spaces and processes for research to be carried out, to ensure research participants, including those with rare diseases, are protected while they take part.

It is also important that Reduction in access to treatment we restore patient and public options for rare disease patients confidence in visiting hospitals, The decision to prioritise which will help ensure they COVID-19 research was not taken continue to get the care and lightly and some researchers did treatment they need. We know keep their trials Government is also going throughout assessing capacity the pandemic, for research, so introducing that research sites measures like have the workforce Not all trials were able direct-to-patient to continue and, for people to be able to deliver shipments of COVID-19 and nonwith rare diseases, that investigational COVID-19 studies. medicinal products means that they may have There is and remote progress, but there been left without treatment monitoring of are still thousands options. study patients of studies that are via video or paused. telephone.

We will continue to work Despite these adaptations, not together with the NHS, all trials were able to continue and, Government and, most for people with rare diseases, that importantly, patients, to help get means that they may have been critical UK research fully back up left without treatment options. For and running. As the UK looks to some with progressive conditions, the future of treatment for rare the opportunity to participate may diseases, it’s critical that we do 1 have been lost entirely. So it’s very this now. important we get clinical research in all disease areas back up and References running. Since May, we’ve been 1. https://covid-19.geneticalliance.org.uk/ working closely with Government wp-content/uploads/2020/07/Covid-19-Rareto do this.

Reality.pdf

Dr Rick Thompson CEO, Findacure

©ANYAIVANOVA

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cheap and widely Urgency drives change available drug can The fundamental difference help save the lives – between rare diseases and of patients seriously emerging infections – is urgency. ill with coronavirus.”

The pace of COVID-19’s spread, This headline recently and the imminent threat it posed, proclaimed dexamethasone as the created the sense of overwhelming first proven, life-saving drug in the urgency needed to fast-track race to treat COVID-19. In the world treatments. In contrast, most rare of rare diseases, ‘cheap’ and ‘widely diseases are genetic, spread on a available’ aren’t terms often heard, generational timescale and aren’t so how was this achieved? infectious: consequentially, they The answer is repurposing. remain a policy afterthought.

Dexamethasone has been used Repurposing is a growing for decades to treat asthma and phenomenon in rare diseases, arthritis. Scientists investigating with projects throughout the COVID-19 have now shown that development pipeline. Whether it it significantly be the repurposing reduces the risk of of everolimus for death in patients tuberous sclerosis severely affected or nitisinone for While no miracle cure, by coronavirus. alkaptonuria, Dexamethasone’s research is dexamethasone will save age and breadth happening. lives: a fact demonstrated of use means it is However, progress in a matter of months. cheap and widely is slow as the available. urgency to develop While no miracle cure, treatments is rarely felt beyond dexamethasone will save lives: a our community. fact demonstrated in a matter of COVID-19 has highlighted months. This perfectly illustrates drug repurposing’s potential the value of drug repurposing: and demonstrated what can be rapid research; accessible, achieved when urgency drives well-understood drugs; low-cost drug development. We must use medication; and a step change in the urgency of patients, parents treatment. and carers living with the world’s Emerging infections and rarest conditions to compel rare diseases are both poorly decision makers to learn from understood conditions that can the dexamethasone example. create a high unmet need in those They must deliver new funding, affected. Repurposing offers a rapid incentives, and pathways for rare route to treatment development repurposing to deliver equitable in this scenario, so why aren’t lowand affordable healthcare for all. cost, widely-available, repurposed rare disease treatments the norm?

Dr Sheuli Porkess Executive Director of Research, Medical and Innovation, ABPI

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Every day builds a better tomorrow

Paid for by Alexion

Through research and development, we’re building a better tomorrow, every day.

Meet Abigail and Isobel who are full of life and happiness

Š C E R I DW E N H U G H E S/SA M E B U T D I FFE R E NT

Sean Richardson General Manager, Alexion UK & Ireland

ŠA LE X I O N P H A R M AC E U TI CA L S

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lexion is a global biopharmaceutical company focused on transforming the lives of people affected by rare diseases and devastating conditions through the development and delivery of innovative medicines. We believe it is our responsibility to listen to, understand and help people living with rare disease and those who work tirelessly to offer care and support.

Rare diseases can be devastating. People impacted by rare conditions face major obstacles that can put them at a significant disadvantage, including delays in diagnosis, access to medicines, and fragmented care. Every day, people living with rare diseases, and their caregivers and families, face the fear of the unknown with courage, tenacity and grace, and that inspires us to continue to strive to do everything we can to help. They are our heroes.

Our innovation, which fuels all of our efforts, happens in-house with our research and development team and externally with worldrenowned collaborators. We are not afraid to take on challenges and are committed to exploring every opportunity that may make a difference. In these unprecedented times, it is even more important that our innovation is driven by a sense of urgency and a relentless quest for answers.

Alexion focuses its research efforts on novel molecules and targets in the complement cascade and its development efforts on the core therapeutic areas of hematology, nephrology, neurology, metabolic disorders and cardiology. Our innovation is not limited to science and discovery. We actively seek opportunities to work more efficiently to provide the best experience for our stakeholders.

Alexion is a proud and committed partner to the rare disease community.

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She is the bigger picture.

At Hansa Biopharma we focus on rare patients, rather than rare diseases.

We strive to develop new treatments for people whose immune systems begin to attack healthy cells and organs in their bodies.

Today our focus is on patients with end stage kidney disease who have donor specific antibodies, creating an immunological barrier to transplantation. Our goal is to cross this barrier to allow for a successful transplantation.

Hansa is working to eliminate rare immunological diseases, one person at a time. hansabiopharma.com

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