Plan to increase EU cooperation on rare diseases

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.

Stakeholders and MEPs have long called for seamless cross-border data sharing to underpin research into diagnosis, treatment and care. 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. It was meant to be a key focus of the EU Cross-Border Directive.

In the European Union, a rare disease is one that affects fewer than 5 people in 10,000.  Between 6,000 and 8,000 different rare diseases affect an estimated 30 million people in the EU. Yet, patients and their families continue to have difficulties getting a diagnosis and accessing appropriate health services.

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.

The Commission is preparing to build a 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 the EU and to make it available to researchers working on innovative treatments. The proposal for the data space is due early next year, and it is hoped that rare diseases can become one of the use cases for the new endeavour.

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 required to make Europe a leader in rare diseases research.

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.

The EU has supported the field extensively through its research and innovation framework programmes, with more than €1.8 billion made available over the past 14 years under the Seventh Framework Programme (FP7) and Horizon 2020, to more than 320 projects on interdisciplinary research in the area of rare diseases.

These projects span across all medical areas i.e., neurological, immunological, metabolic diseases or rare cancers, and contribute to the understanding of the causes and characteristics of rare diseases, to develop new diagnostics and therapies for patients and to promote best practices for use in hospitals and healthcare systems.