Skip to content
DRAFT REPORT (2025/2130(INL))

With recommendations to the Commission on a European Union rare disease action plan

SANT-PR-785192

Committee on Public Health · Rapporteur: Nicolás González Casares

Official HTML ↗ PDF DOCX
✦ In shortFull text
✦ In short · AI summary of this text, generated 25 Sept 2026

Written by a language model from the full text only; every figure comes from the text. The paragraph links open the paragraph a statement rests on — check the text itself before relying on it.

This is a draft report by the Committee on Public Health, with recommendations to the Commission on a European Union rare disease action plan. It calls for a comprehensive Union action plan and proposes a Regulation establishing a European rare disease action framework. The proposed Regulation would set up a diagnostic coordination mechanism, a one-year diagnosis target by 1 January 2030, a genetic diagnosis roadmap, and rules on access to treatment, research, data and governance. It would make access to funding under the national regional partnership plan conditional on national or regional newborn and prenatal genetic screening programmes meeting Union benchmark standards. It would also establish a European rare disease coordination board, an EU rare diseases benchmark, and a federated European rare disease data network integrated with the European Health Data Space.

Committee position. The rapporteur proposes that Parliament call on the Commission to submit a legislative proposal for a Regulation establishing a European rare disease action framework, with recommendations on its principles, objectives, participation and implementation.

Key points

  1. Calls on the Commission and Member States to develop a comprehensive Union rare disease action plan covering the full care pathway, with clear milestones and a strategic roadmap.
  2. Urges mechanisms to improve access and affordability of therapies, including targeted support for ultra-rare conditions and advanced therapies, and transparency in treatment availability and pricing.
  3. Calls for Union-level research coordination, a rare disease research strategy aligned with Horizon Europe, pooled infrastructures and biobanks, patient involvement and measurable research targets.
  4. Calls for frameworks for patient and family support, evidence on socio-economic impacts, and attention to gender and caregiving inequalities.
  5. Stresses strengthening governance and cross-border coordination by enhancing ERNs' sustainability, integration, geographical coverage and referral pathways, and exploring stable financing and legal status.
  6. Calls to accelerate reduction of diagnostic delay, develop common principles for newborn screening and early detection, create a Union coordination mechanism, and support genomic technologies, telemedicine and cross-border diagnosis.
  7. Calls for reinforced Union coordination on health technology assessment, voluntary joint clinical evidence generation and joint procurement, tailored regulatory pathways and incentives for ultra-rare conditions and advanced therapies.
  8. Calls for systematic monitoring of inequalities in access, reimbursement timelines and availability of authorised treatments, and piloting of sustainable funding and payment models for advanced therapies.
  9. Calls for full interoperability of rare disease registries, integration of rare disease data into the European Health Data Space, standardised coding, a federated European rare disease data network and secure cross-border data sharing.
  10. Calls for Union guidance on integrated multidisciplinary care pathways, recognition of socio-economic impact on families and carers, harmonised disability assessment principles and improved cross-border continuity of care.
  11. Proposes a Regulation establishing a binding European rare disease action framework with six pillars, a diagnostic coordination mechanism, a one-year diagnosis target by 1 January 2030, and a genetic diagnosis roadmap.
  12. Proposes rules on access to treatment, research and artificial intelligence, a federated data network, a coordination board, an EU rare diseases benchmark, and NRPP funding conditional on screening programmes meeting Union benchmark standards.

Who is affected

  • People with rare diseases in the Union, estimated at 27 to 36 million, who would benefit from earlier diagnosis and more equitable access to treatment.
  • Member States, which would have to report on diagnostic progress, apply common data standards and meet screening conditions for NRPP funding.
  • European Reference Networks, which would be strengthened, structurally reinforced and given sustainable financing and clearer governance.
  • Patient organisations, healthcare professionals and civil society, which would be consulted regularly in governance and evaluation.
  • Beneficiaries of Union funding for advanced therapy medicinal products, who must ensure affordability, availability and accessibility of results.

Figures and deadlines

  • 27 to 36 million people in the Union are estimated to be affected by rare diseases.
  • Of an estimated 6 000-8 000 rare diseases identified, about 95 % lack approved treatment.
  • Around 80 % of rare diseases have a genetic origin.
  • A public consultation in March 2025 gathered views of more than 4 000 persons.
  • By 1 January 2030, patients with suspected rare diseases should receive an accurate diagnosis within one year from the first medical consultation where medically feasible.
  • A rare disease is defined as affecting not more than 5 in 10 000 persons in the Union.
  • An ultra-rare condition is defined as affecting fewer than 1 in 50 000 persons.
  • Support for rare diseases under the NRPP is set in the post-2027 Multiannual Financial Framework (2028-2034).

Legal basis: Article 225 of the Treaty on the Functioning of the European Union; Articles 16, 114 and 168 of the Treaty on the Functioning of the European Union.