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Answer to a written question – Action plan on rare diseases – E-000886/2025(ASW)

Source: European Parliament

Challenges around orphan drugs are manifold. Medical requirements of patients with rare diseases (RD) are not adequately met, affordability of products is a growing challenge for individuals and health systems, and the existing regulatory framework does not sufficiently cater for innovation.

The Commission has taken strong actions on RD notably with the European Reference Networks (ERN), making expertise travel and disseminate.

To maximise the benefits already offered by the ERNs, their integration into national healthcare systems is needed. A Joint Action is underway until 2027 to achieve this goal[1], providing a clearer picture of the RD landscape in the EU and informing future decisions.

The ongoing revision of pharmaceutical legislation[2] promotes the development of treatments for RD via regulatory incentives and enhanced scientific support from the European Medicines Agency.

It focuses on areas where patients have no treatment options[3], facilitating faster access to innovative medicines and affordable medicines.

The Commission supports ORPHANET’s work on RD nomenclature and high-quality information on RD codification[4].

ERNs for RD[5] have conducted over 4 000 virtual panels on RD patients since 2017 .

Collaborative research on RD has been a Commission priority[6] since 2006, when it first coordinated research funding with national agencies[7].

Recently it launched its fourth successor, the European Partnership ERDERA[8], and at global level[9]. The Innovative Health Initiative also supports RD research[10].

Gaps are tackled from various angles: treatments[11], diagnoses[12], newborn screening[13], Health Technology Assessment[14], specific regulatory needs[15], inclusion of RD patients, and through relevant projects[16].

EU funding enables better treatment for RD patients. While a financial solidarity instrument is not currently in the pipeline, in 2023 the Commission funded via EU4Health the ERNs for another four years with EUR 77.4 million.

Besides, Directive 2011/24/EU[17] supports cross-border healthcare, including for RD. Its evaluation in 2027 will guide next steps.

  • [1]  JARDIN Joint Action https://jardin-ern.eu/.
  • [2] Reform of the EU pharmaceutical legislation https://health.ec.europa.eu/medicinal-products/pharmaceutical-strategy-europe/reform-eu-pharmaceutical-legislation_en.
  • [3] EU Pharmaceutical reform: Steering innovation to address unmet medical needs https://health.ec.europa.eu/document/download/93406a57-1be5-4005-a63f-de5fb1de4748_en?filename=factsheet_umn_en.pdf.
  • [4] Nomenclature: ORPHAcodes https://www.orpha.net/.
  • [5] European Reference Networks https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/european-reference-networks_en.
  • [6] https://research-and-innovation.ec.europa.eu/research-area/health/rare-diseases_en.
  • [7]  E-Rare https://www.era-learn.eu/network-information/networks/e-rare.
  • [8] https://cordis.europa.eu/project/id/101156595.
  • [9] Through the International Rare Diseases Research Consortium https://irdirc.org/who-we-are-2/.
  • [10] https://www.ihi.europa.eu/projects-results/project-factsheets/realised; https://www.ihi.europa.eu/projects-results/project-factsheets/c4c; https://www.ihi.europa.eu/projects-results/project-factsheets/ardat and more.
  • [11] https://cordis.europa.eu/programme/id/HORIZON_HORIZON-HLTH-2022-DISEASE-06-04-two-stage/en; https://cordis.europa.eu/programme/id/H2020_PHC-14-2015/en and previous calls.
  • [12] https://cordis.europa.eu/programme/id/H2020_SC1-PM-03-2017/en and previous calls.
  • [13] https://www.ihi.europa.eu/projects-results/project-factsheets/screen4care.
  • [14] https://cordis.europa.eu/project/id/825162.
  • [15] https://cordis.europa.eu/programme/id/HORIZON_HORIZON-HLTH-2023-IND-06-04/en and previous calls.
  • [16] SOLVE-RD https://solve-rd.eu/; ImmunAID https://cordis.europa.eu/project/id/779295/reporting; Connect4Children https://conect4children.org/; Screen4Care https://screen4care.eu/; REMEDI4All https://remedi4all.org; REPO4EU https://repo4.eu/.
  • [17] http://data.europa.eu/eli/dir/2011/24/oj.