EURORDIS publishes European Blueprint for EU Action Plan on Rare Diseases

EURORDIS-Rare Diseases Europe has published a European Blueprint for Rare Diseases, setting out 18 priority actions to improve diagnosis, healthcare, research, and access to treatment. The proposals are intended to inform the development of a coordinated EU Action Plan on Rare Diseases.

The Baseline

• EURORDIS has published a European Blueprint for Rare Diseases, outlining 18 priority actions across diagnosis, healthcare, data, research, and treatment access.
• The Blueprint highlights persistent inequalities in diagnosis, specialist care and access to treatments affecting approximately 30 million people across Europe.
• EURORDIS calls for a coordinated EU Action Plan on Rare Diseases, with measurable targets, dedicated funding, and stronger cooperation between Member States.

Published on October 15, 2026, the European Blueprint for Rare Diseases brings together proposals developed through consultation with patients, healthcare professionals, researchers, public authorities, and industry. The document identifies gaps in existing European initiatives and proposes a framework for aligning EU-level action with national rare disease strategies.

Rare diseases collectively affect approximately 30 million people across Europe, with differences in access to diagnosis, specialized care, and treatment between countries. According to the Blueprint, diagnosis takes nearly five years on average from the onset of symptoms, with 60% of patients initially misdiagnosed and 40% never referred to a Centre of Expertise.

Access to treatment also varies across Europe. Around 95% of rare diseases have no approved therapy, and patients with conditions for which treatments are available may face substantial delays in reimbursement. The Blueprint reports an average of 578 days between EU marketing authorization and national reimbursement decisions, rising to more than 900 days in some Member States.

EURORDIS identifies a need for closer coordination between existing European initiatives, including the European Reference Networks (ERNs), Orphanet, and the European Rare Diseases Research Alliance (ERDERA), as well as national healthcare systems and research infrastructure. This is particularly relevant given the small populations affected by individual conditions, with approximately 85% of rare diseases affecting fewer than 500 people in the EU. The proposed coordination would support data sharing, specialized expertise, and cross-border care.

Jean Saslawsky, Chief Executive Officer, EURORDIS, commented:

“Europe has built excellent networks, research programs, data systems, specialist centers and a regulatory framework, but too often they sit beside one another rather than working as one system.”

The Blueprint identifies 18 priority actions across six areas:

• Diagnosis
• Specialized healthcare
• Integrated care and social inclusion
• Data
• Research
• Access to medicines and medical devices

The proposals include improving diagnostic referral pathways, developing European guidance on newborn screening, expanding access to genetic testing, and strengthening cross-border specialist care. Other priorities include wider adoption of ORPHAcodes, improved rare disease registries, integration of data into the European Health Data Space, and better alignment of evidence generation and assessment. The Blueprint also proposes stronger compassionate-use frameworks and coordinated mechanisms for treatment access.

The Blueprint proposes three strategic goals for an EU Action Plan: improving health and quality of life; promoting equality and inclusion; and supporting resilient systems, innovation, and competitiveness. EURORDIS recommends shared objectives, SMART targets, dedicated funding, and a monitoring framework incorporating public reporting and independent evaluation. A proposed multi-stakeholder Advisory Board would bring together the European Commission, Member States, patient representatives, and other stakeholders, with patient involvement embedded throughout implementation and evaluation.

Avril Daly, President, EURORDIS, emphasized the importance of aligning European and national approaches:

“National plans need a European framework to reach their full potential.”

The publication comes amid developments at EU level. On September 28, 2026, the European Parliament’s Public Health Committee adopted a legislative initiative report calling for an EU Action Plan on Rare Diseases and a future Regulation. A plenary vote is expected in November 2026.

EURORDIS states that existing and proposed EU legislation, including the EU Health Technology Assessment Regulation, pharmaceutical legislation and Biotech Act, addresses individual aspects of rare disease policy but does not provide a framework covering the entire patient journey. The organization is calling on the European Commission to propose an Action Plan informed by the Blueprint, supported by dedicated resources under the 2028–2034 Multiannual Financial Framework. It is also seeking a renewed Council Recommendation on rare diseases by the end of 2027.