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Open letter: ECRD partner organisations call on the European Commission for a new European strategy on rare diseases

July 2022

EURORDIS, alongside 57 partner organisations of the European Conference on Rare Diseases and Orphan Products 2022, co-signed a letter to call on the European Commission to take forward the conclusions of the conference for a European Action Plan on Rare Diseases.

58 organisations – representing patient organisations, learned societies, ERN coordinating centres, health and research groups and initiatives, and industry umbrella groups – signed up to reiterate the conclusions of the Conference.

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Call for a European Action Plan on rare diseases from organisers and partner organisations of ECRD 2022 

Dear Commissioner Kyriakides, 

On behalf of the organisers and partners of the 11th European Conference on Rare Diseases and Orphan Products (ECRD), we would like to thank you for your contribution to this key event for the rare disease community. We appreciated your reassurance that “access to knowledge, diagnosis and treatment for rare disease patients will remain central to EU policy”. 

However, the question remains: how can we ensure the interconnectedness and synergy of the different legislative and non-legislative initiatives you mentioned, across different directorates, without a strategy in place that would bring the existing actions on rare diseases under a common EU umbrella, steered by the same measurable goals? 

Over the five days of the European Conference on Rare Diseases, 850 stakeholders gathered to discuss exactly how this rare disease policy should be put into action in Europe to work towards meaningful goals, aligned with the SDGs, for people living with a rare disease. These goals were the themes of the conference: to improve health and well-being, to reduce inequalities and to foster innovation. 

At the conference, it was clear: the rare disease community needs a coordinated, cross-border and cross-sector European action plan on rare diseases. This call, reiterated by this letter, comes from all stakeholders: from patient advocates, clinical and research groups, industry umbrella groups, to Members of the European Parliament and Member States. The 30 million Europeans living with a rare disease at the European level can no longer wait for “accidental progress”, but require success by design. 

 As you so duly noted, 

  • It is important to the rare disease community that there is a strong European Health Data Space that upholds strong ethical principles of digital health and that includes a specific rare disease codification standard; 
  • It is important to us that the regulatory system, through the revision of the Orphan Medicinal Products and Paediatric Regulation, the General Pharmaceutical Legislation and the implementation of the HTA regulation, positions the EU as a global leader in medicine development to address the unmet needs of the rare disease community; 
  • It is important to us that European Reference Networks improve standards of care by being well integrated into national health care systems through the upcoming joint action; 
  • It is important to us that rare disease research is prioritised and has a direct impact on people living with a rare disease. This is an area where you recognised the benefits of working together at EU level, and we would stress the need for this to be cross-border but also cross-sector working with strong links between research, data and healthcare.

We recognise these tremendous efforts and progress over the last years. 

Yet, what is equally important is that all these actions work towards common goals through one coordinated strategy. 

Europe’s Action Plan for rare diseases is the necessary step to improve the lives of European citizens living with a rare disease. Success by design would mean linking the needs of a person living with a rare disease from diagnosis, through to data, research, treatment, care and inclusion; enshrining rights to accessing quality care, education and employment; and ensuring that this population can benefit from the cutting edge science and technology that the field is known for. It would strive towards the objectives of both EU4Health and Horizon Europe. 

It does not take much more than what we have already. The common view of the rare disease community is that all legislative and non-legislative actions should be federated under a new Commission Communication and Council Recommendation on rare diseases, revising the framework from 2009. This should see the whole European Union work towards the same common goals, through:

  • All legislative files with relevance to rare diseases connected and reported on; 
  • Encouragement for Member States to drive national plans and strategies for rare diseases; 
  • Innovative actions to accelerate progress in certain areas; 
  • Measurable goals aligned with SDGs introduced to track progress.

On the last day of the European Conference on Rare Diseases and Orphan Products, the Czech Republic committed to supporting an EU Action Plan on rare diseases during its six-month EU Presidency, following on from France as part of the Trio of the EU Council Presidencies’ priorities. 

We appreciate your commitment to rare diseases and have no doubt that under your leadership, we will see a new strategy for rare diseases by the end of this Commission’s mandate. 

We count on your support and look forward to working with you further. 

Signed by: 


1. EURORDIS-Rare Diseases Europe 

2. Orphanet

Full and Associate Partners 

3. C4C (Conect4Children) 

4. EAHP – European Association of Hospital Pharmacists 

5. Ethical Medicines Industry Group 

6. EFPIA – European Federation of Pharmaceutical Industries and Associations 

7. EUCOPE – European Confederation of Pharmaceutical Entrepreneurs 

8. Europabio 

9. European Burden of Diseases Network 

10. European Joint Programme on Rare Diseases 

11. Fipra 

12. Institut Imagine 

13. Isinnova 

14. John Walton Muscular Dystrophy Research Centre 

15. MedTech Europe 

16. Telethon Italia 

17. Together for Rare Diseases 

18. The Wilhelm Foundation – The Undiagnosed

Coordinating centres of the ERNs: 

19. Endo-ERN 

20. ERKNet 

21. ERN EYE 


23. ERN EuroBloodNet 







30. ERN-RND 


32. MetabERN 



Council of Rare Diseases National Alliances 

34. Pro Rare Austria Allianz für seltenen Erkrankungen 

35. RaDiOrg Rare Disease Organisation Belgium ASBL/VZW 

36. Bulgarian National Alliance of People with Rare Diseases 

37. Rare Diseases Croatia 

38. Cyprus Alliance For Rare Disorders 

39. Rare Diseases Czech Republic (Ceska Ascociace Pro Vzacna Onemocneni) 

40. Rare Diseases Denmark (Sjaeldne Diagnoser) 

41. Harso-Rare Disease Alliance Finland 

42. Alliance Maladies Rares 

43. Allianz Chronischer Seltener Erkrankungen e.V. 

44. 95 Rare Diseases Alliance, Greece 

45. HUFERDIS – RIROSZ – Rare Diseases Hungary 

46. Rare Diseases Ireland 

47. UNIAMO- Rare Diseases Italy 

48. Latvian Alliance for Rare Diseases 

49. Rare Diseases Lithuania (Vaikų retų ligų asociacija) 

50. Alan – Maladies Rares Luxembourg 

51. National Alliance For Rare Diseases Support – Malta 

52. VSOP – Vereniging Samenwerkende Ouder En Patiëntenorganisaties 

53. Polish National Forum on the treatment of Orphan Diseases – Orphan 

54. RD-Portugal – União de Associações das Doenças Raras de Portugal 

55. Romanian National Alliance For Rare Diseases 

56. Slovak Alliance of Rare Diseases 

57. FEDER – Federación Española De Enfermedades Raras 

58. Rare Diseases Sweden (Riksförbundet Sällsynta Diagnoser)