Rare diseases pose a significant challenge to the European health institutions. Due to the relative irregularity that people suffer from rare diseases, treatment has historically been hindered by a lack of knowledge and funding for further research.
Despite that, big advances have come since 2000 thanks to an EU regulatory framework that incentivised the research and development of treatments for rare diseases. In the intervening 22 years, the number of treatments for rare diseases has massively increased.
With the regulation coming up for review in 2022, Euronews gathered a panel of experts, industry leaders and key players in Brussels to address the issue of how rare disease provision can be advanced in the EU.
You can watch highlights from the debate in the video player at the top of this article.
Watch the full live debate here:
What is the EU’s current strategy on rare diseases?
Over the last 20 years, innovation surrounding rare diseases in Europe has improved dramatically, with a specific framework put in place by the EU called the Orphan Medicinal Products (OMP) Regulation.
This rule concerns products developed to treat medical conditions which, because they are so rare, would not be profitable to produce without supporting governmental measures.
Previously, only eight orphan medicines were available for patients but this number has risen to more than 200, resulting in the pharmaceutical sector delivering treatments for up to 6.3 million patients.
In November 2020, the European Commission published the EU Pharma Strategy, which set out a number of proposed measures to increase access to medicines in Europe, as well as address shortages. As part of the strategy, the Commission expects a major review of OMP regulation in 2022.
Although available orphan medicines have increased, 95% of rare diseases still do not have any treatments. Yann Le Cam, CEO of EURORDIS believes that the review offers an opportunity to expand the range of rare disease treatments significantly over the next two decades.
“Imperial College London analysed that based on the past twenty years in the US and in Europe, the trend is that 600 new therapies by 2030. Which sounds great but is still insufficient for the unmet needs. But there is the potential to go to 1,000 therapies in the next ten years if we improve the research environment, ecosystem and regulatory measures,” he said.
Nathalie Moll, Director General, EFPIA commented that the efficient coordination and research seen by the EU’s response to the COVID-19 pandemic should be emulated with the EU’s future rare diseases frameworks.
“It’s important that with the European Commission reviewing regulation and with COVID, it makes us as an industry look deeply into the barriers and why it's so hard to find treatments for rare diseases.”
“A huge stumbling block is the science. Because the populations are so small, scientific knowledge decreases with prevalence. With COVID-19, we were amazing. We collaborated, we opened our databases and did incredible work. So when we review the regulation we need to have a moon-shot approach to developing the science and accelerating the research,” she said.
How is the EU encouraging rare disease innovation?
The European Commission currently provides a number of incentives to the pharmaceutical sector to encourage the development of OMPs. These include fee reductions or exemptions from regulatory assessment procedures, a 10-year market exclusivity period post-authorisation, as well as scientific and protocol assistance, including an early dialogue with the regulator.
While OMP Regulation is estimated to have led to the production of 74 per cent of authorised OMPs between 2000-2017, 95 per cent of rare diseases remain without authorised treatment.
The European Commission published its Staff Working Document on the Evaluation of OMPs in August 2020. According to their evaluation, the Commission believes that Orphan Regulation has over-incentivised innovation, resulting in high prices for orphan medications. The Commission is therefore considering limiting incentives to areas of unmet medical need.
In response to potential policy changes, the European Expert Group of Orphan Drug Incentives is hoping to become a source of potential solutions for the OMP Regulation Evaluation. The group brings together a diverse range of rare disease experts, including EURORDIS: The Voice of Rare Disease Patients in Europe and the European Confederation of Pharmaceutical Entrepreneurs (EUCOPE).
“We’ve seen 20 positive years in tackling rare diseases. We have many products on the market we wouldn’t have without the EU framework that incentivises for rare diseases,” Alexander Natz, Secretary General, EUCOPE, said.
“We need to get better and quicker. It’s not about the companies themselves. A small company can be very agile in bringing research and products. But we have to be quicker.”
Considering the recommendations EUCOPE has given to the Commission, Natz adds, “From a company perspective, it’s all about predictability. I need to know and tell my investors how much exclusivity I will get for a product, will my offer of exclusivity for a compound be secure.”
How else is the EU leading on rare disease innovation?
In 2000, the European Commission worked with INSERM (the French National Institute for Health and Medical Research) to develop Orphanet.
The online platform provides doctors, researchers and pharmaceutical groups with information about rare diseases, in order to improve diagnosis and treatment.
The resource provides high-quality information on rare diseases and also includes the Orphanet rare disease nomenclature (ORPHAcode), which improves the visibility of rare diseases in relevant information systems.
Since its inception, Orphanet has grown dramatically and the consortium now includes 40 countries, both in Europe and the wider world.
Is a European platform for rare disease registration in the pipeline?
Patient databases can help to encourage the development of clinical research into rare diseases, while also improving patient care too. So in order to streamline research into rare diseases, the European Commission is advocating for the creation of a European Platform on Rare Diseases Registration.
Currently, there are no uniform standards governing the collection and availability of patient registries and databases, and, according to Orphanet, there are 600 rare disease registers in Europe alone. Multiple registers may also exist for the same disease and there are estimated to be registries for only 20 per cent of rare diseases.
In the European Union, a disease is considered rare if it affects fewer than five people in 10,000.
This might sound small, but in practice, six to eight per cent of the bloc's population is affected by a distinct rare condition like this, which translates to between 27 and 36 million people.
Most of these patients suffer from even rarer diseases that affect just one person in 100,000 or more, according to EU data.
Approximately 5,000-8,000 distinct rare diseases in the EU span all medical areas and include neurological, immunological and metabolic diseases, as well as rare cancers.
How can the EU synchronise its efforts more with its member states?
One of the big topics of the discussion was how the European Commission's goals could be effectively implemented across every member state.
“The European Parliament understood the importance to create a European Health Union. We understood during the pandemic that our national health systems are weak and we need to give more competencies to the European level,” explained Alessandra Moretti, Member of the European Parliament.
“The priority should be equal rights for everyone in Europe. Everyone across the EU. should enjoy some basic rights in terms of access to health services. We have asked the European Commission for binding regulatory measures for access to life saving services.”
The importance of sharing knowledge and removing barriers to data from clinical trials being passed between research facilities in the EU was stressed. Sandra Galina, Director General, DG Santé, European Commission, noted the importance of regulation creating EU-wide registries on rare diseases.
“Once fully populated with clinical data, these will facilitate clinical research for rare diseases and improve healthcare and planning of patient care. Integrating these registries into the European health data space is going to be a major step. This will create a sea of opportunity for patients to access their data and foster innovation,” Galina said.
“Member states have exclusive competence when it comes to measurement of their healthcare systems. But the EU has shared the competence of public health matters and has great powers when it comes to pharmaceutical legislation,” Moretti said.
“Healthcare systems are managed at a national level, but the EU can and should create the conditions for every patient to have the chance to be cured and have accessible and equal treatments,” she concluded.
Our panellists joining the debate around such conditions are:
Alessandra Moretti Member of the European Parliament, representing the northeast Italian region of Veneto. Alessandra is a member of the Committee on the Environment, Public Health and Food Safety, the Committee on Foreign Affairs and the Committee on Women’s Rights and Gender Equality.
Yann Le Cam CEO, EURORDIS - Rare Diseases Europe. Yann initiated Rare Diseases International (RDI) in 2009. He is an elected member of the RDI Council and Chair of the RDI Advocacy Committee. Yann is also a founding member of the NGO Committee for Rare Diseases and its Vice-Chair.
David Nestor Head of Neuromuscular Disease, Europe, Canada and Partner Markets at Biogen. David leads the regional team accountable for the strategic planning and execution of Biogen’s programmes in Spinal Muscular Atrophy and Amyotrophic Later Sclerosis.
Philippe Berta Member of the National Assembly of France & President of the study group on rare diseases.
Dolors Montserrat, Member of the European Parliament
Alexander Natz, Secretary General, EUCOPE
Nathalie Moll, Director General, EFPIA
Jeremy Wilks Euronews reporter and debate moderator
Euronews science reporter Jeremy Wilks covers everything from climate change to healthcare innovation. He has reported on science research, innovation and digital technology across Europe for over a decade. He regularly hosts live debates both on Euronews digital platforms and at large conference events. Jeremy is the presenter of the monthly Climate Now series on Euronews.
The debate will also feature special guests including Sandra Gallina, Director General, DG Santé, European Commission, Doddie Weir OBE, Rugby legend in Scotland and ALS/MND advocate, Dolors Montserrat, Member of the European Parliament, Alexander Natz, Secretary General, EUCOPE, and Nathalie Moll, Director General, EFPIA.