Rare diseases: improving access, care and diagnosis
People with a rare diseases face challenges as such diseases can take time to be diagnosed. Patients can go through years of testing and mis diagnosis before seeing a specialist who knows what care they require.
About 5% of rare diseases have therapies with few cures, at best transformative while many improve and/or prolong life. The EU is well positioned to add value due to its geographic spread and overall population size which provide potential representative populations greater than present at national levels.
In such cases, effective strategies need collaboration across borders,which the EU has experience at doingfor effective cross-country collaboration. The EU has introduced legislation to create favourable environments to invest in new medicines to treat rare diseases, which increase the range of therapies available through appropriate incentives.
Improving the pipeline for new medicines is part of the solution for rare diseases: other concenrs are decisions by competent authorities on whether such therapies should be reimbursed so making them accessible to more patients.
Support to member state efforts helps improve the current system with analysis, recommendations, pilot projects and the new European Reference Networks (ERNs), that aim to provide highly specialised care for patients with complex conditions. These bring together clinicians, researchers and patients to improve knowledge as well as care through cross-border collaboration.