Rare diseases collectively affect an estimated 27-36 million people in the European Union and impose a substantial and persistent burden across health, social and economic domains. Despite sustained EU engagement over two decades, patients continue to face challenges and there are persistent disparities between and within Member States in tackling rare diseases. This European Added Value Assessment examines the case for a more coherent EU-level framework for rare diseases, focusing on areas where coordination, scale and knowledge aggregation can add value while respecting the limits of Union competence in public health. The study assesses existing EU instruments and identifies areas for further EU action across the rare disease care pathway, including diagnosis, access to therapies, research and innovation, data sharing, patient and family support, and governance. Overall, the findings point to the benefits of a more strategically aligned EU approach to consolidating existing initiatives, reducing fragmentation, strengthening cross-border coordination and enhancing equity, efficiency and sustainability in rare disease policy across the Union.
Read the executive summary here.