EU Parliament Research Services demonstrates added value of a future European Action Plan for Rare Diseases

The European Parliamentary Research Service (EPRS) has published the results of a European Added Value Assessment of a future EU rare disease action plan. This study, conducted at the request of the EU Parliament’s Committee on Public Health, examines the case for such a plan by assessing existing EU instruments and identifying areas for further European action on rare diseases.

Overall, the report finds wide-ranging evidence of the added value of a more strategically-aligned, coherent EU-level framework for rare diseases. A total of 31 measures were identified as having clear potential to reduce the significant health, social and economic burden associated with rare diseases, with European Reference Networks (ERNs) acting as a key driver of EU added value across all actions. These measures are grouped in six thematic areas:

• Diagnosis and screening: Measures to shorten diagnostic pathways, improve early detection and treatment, and reduce avoidable disease progression, such as increased EU action on coordination, guidance, benchmarking and knowledge-sharing, including through stronger links between Orphanet, ERNs and primary care, as well as coordination on newborn screening.
• Access and affordability of therapies: Measures to reduce inequalities in access to medicines and improve predictability for patients and payers, such as closer alignment between regulatory and HTA processes, and targeted support for ultra-rare conditions.
• Research and innovation: Measures to accelerate the translation of scientific advances, increase efficient use of public investment and promote development of diagnostics and therapies responding to unmet medical need, such as EU action to align research agendas, support shared infrastructures and embed patient involvement.
• Data sharing and registries: Measures to reduce duplication and transaction costs, strengthen evidence for clinical, regulatory and policy decisions, and improve system efficiency, such as promoting the systematic use of ORPHAcodes and integration with the European Health Data Space.
• Patient and family support, social inclusion and care: Measures to reduce socio-economic burden on patients and carers, improve continuity of care, and mitigate disease impacts on employment, education and informal care, such as supporting integrated and person-centred care pathways and functioning-based disability recognition.
• Governance and cross-border coordination: Measures to reduce inefficiencies arising from fragmented expertise and ensure equitable access to specialised care across Member States, such as developing clearer referral pathways, improved reimbursement arrangements for virtual cross-border consultations, and exploration of stable financing and legal status mechanisms.

These results clearly demonstrate the urgent need to develop a cohesive, strategically-aligned EU framework for rare diseases through the creation of a dedicated action plan. The assessment highlights the significant European added value of such a plan, emphasizing how this would be a critical step in addressing the health, social and economic burdens currently experienced by the approximately 30 million people living with a rare disease in Europe. The EPRS assessment and its findings add to the growing political recognition and momentum of this issue, undeniably demonstrating the need to prioritise funding for an EU rare disease action plan in the next EU health programme.