Rare diseases will be on France’s EU Council Presidency agenda, as stakeholders and MEPs call for seamless cross-border data sharing to underpin research into diagnosis, treatment and care
The EU is to up its ambition in tackling rare diseases, with France - as a long term champion of EU cooperation in this area of unmet medical need - due to put the topic on the agenda of its upcoming presidency of the Council.
With 30 million patients in the bloc and treatments available for only 6% of the diseases, the issue has been on the EU agenda for years. In 2009, the member states adopted policy recommendations initiating new efforts, while the European Commission has invested €1.8 billion in research in the last 14 years.
Yet, patients and their families continue to have difficulties getting a diagnosis and accessing appropriate health services.
Experts and the European Parliament say it’s high time for the EU to come up with a new action plan for jointly tackling the burden of rare diseases. “These diseases can only be effectively tackled at the European level. It is therefore necessary to make the European plan for rare diseases a priority to be included in the context of the European Health Union,” said Alessandra Moretti MEP in a recent debate at the European Parliament.
An outline of what is needed has already been drawn up in the Rare 2030 foresight study, which makes eight recommendations for tackling rare diseases at an EU level, including a call for better cross-border data sharing to underpin the development of treatments and health services.
“You can’t understand a disease mechanism, impact or potential solution if you don’t reach a threshold of data, so clearly you must share the scarce data that you do have. Absolutely fundamental to this is that it has to be transnational,” Anna Kole, the coordinator of the project behind the Rare 2030 study, told Science|Business.
Partnership in the works
Data sharing is central to enabling EU wide cooperation on rare diseases, from improving understanding of the natural history of these diseases, to ending the diagnostic odyssey that so many rare disease patients endure, and to the development of new treatments. There is some movement here, as the Commission prepares to build the European health data space to promote better exchange and access.
“A lack of data is a crucial challenge for rare diseases, and the European Health Data Space will make it easier to gather data from all corners of the EU and to make it available to researchers working on innovative treatments,” EU health commissioner Stella Kyriakides told MEPs during the debate.
The proposal for the data space is due early next year, and Kole hopes rare diseases can become one of the use cases for the new endeavour. “I think it would be demonstrable of potential difficulties but more importantly the potential success,” she said.
The European Parliament is in support. “We need to create a strong innovation ecosystem in the area of rare diseases and a new strategy for data sharing in healthcare. The exchange of information and knowledge is particularly important in combating these diseases,” said centre-right MEP Maria da Graça Carvalho.
Once data is consolidated and accessible, researchers can get to work on the development of treatments and new approaches to social and health management. More data will also enable companies to run more clinical trials.
“There’s still a huge desert to cross between basic understanding and commercialisation,” said Kole. “The science is there, but the question is how we get this treatment to patients quickly.”
One avenue for encouraging translation of academic research is through a new Horizon Europe partnership between the European Commission, member states and the rare diseases community. This will build on the European Joint Programme for Rare Diseases that coordinated funding and supported research at EU level.
The new partnership, expected to launch around 2023, will aim “to transform the links between clinical care and research and to create the ecosystem truly required to make Europe a leader in rare diseases research,” said Kole. “What it needs to be is adequately funded, otherwise will not achieve its potential and ambitions.”
A new plan
The ultimate goal is a plan for rare diseases that would set out objectives and policy recommendations for member states, and the French presidency is expected to open the discussion on a proposal for such plan, according to sources.
Sara Cerdas MEP from the S&D group said the new plan should “make us more competitive in terms of innovation and research, new therapies and technologies and that allows us to adequately respond to current needs, such as earlier diagnoses and more appropriate therapies.”
Data must be at the centre of the new initiative. On behalf of the Greens at the European Parliament, Tilly Metz called for a data space to bring together data scattered among different healthcare systems.
“Collecting this data could help us better understand the specific diseases and develop appropriate treatment. Ultimately, data can help us increase the quality of life of millions of people suffering from rare diseases,” said Metz.
The Commission is currently assessing whether the current policy on rare diseases needs a revision. “I’m a believer that we need to evaluate and where we need to change, to bring about change,” said Kyriakides.
As France picks up the reins of the presidency of the Council in January, the two countries that will follow, Czech Republic and Sweden, are also expected put rare diseases on the agenda. “The political window of opportunity for an action plan is now, and to create the ecosystem truly required to make Europe a leader in rare disease research, one that people living with rare diseases truly deserve,” said Kole.