Integrative research and innovation strategy for rare diseases. Insights from the 5-year European joint programme on rare diseases, including analysis to inform recommendations for future actions.

backgroundThe European Joint Programme on Rare Diseases (EJP RD) was an initiative that sought to integrate different rare disease strategies into a research ecosystem. This paper summarizes the work of the dedicated work package on Integrative Research and Innovation Strategy and outlines recommendations to facilitate alignment with National Plans and Strategies for Rare Diseases.

methodsWe carried out three periodic surveys (in 2020, 2021 and 2023) on the status of national plans and strategies (NP/NS) for rare diseases in EJP RD member countries. Using the feedback from the surveys and other sources, we developed an annual mapping of research and innovation needs and their alignment with the EJP RD programme. A review of the findings and progress from these approaches - including two strategic policy workshops and the development of National Mirror Groups - informed the recommendations to bridge the gap between national efforts and European strategies.

resultsA total of 34 countries responded to at least one survey. Implementation is uneven: 76% of countries have had their NP/NS approved at some point, but renewals are irregular. For EU13 countries, the most frequent barrier to developing, improving and translating rare disease (RD) research results was funding. In terms of the Programme's activities covering mapped needs, we achieved global coverage of 65.8%, with greater coverage of needs for both the diagnostic pathway and the treatment pathway (71%). Four National Mirror Groups were developed during the Programme's first 5 years, and a further seven were established by mid-2024.

conclusionsDespite recent progress in establishing a research ecosystem for rare diseases in Europe, several challenges remain and should be addressed. These include availability and accessibility of diagnostics, medicines and medical devices across Europe, inequalities between and within countries, compliance with the FAIR data principles and the lack of a comprehensive policy framework to integrate different rare diseases initiatives. Next actions need to strengthen the coordination and alignment of funding and national policies, innovation in the translation of research results and the reach of a holistic research ecosystem. National Mirror Groups will play an important role in this respect.