EU Action Plan on Rare Diseases


Due to limited number of patients and scarcity of knowledge and expertise, rare diseases are an EU health policy priority. With their 2021 Resolution1 on the EU’s public health strategy, the EU Parliament echoed several calls to update, adapt or replace the 2009 EU Council Recommendation2 on an action in the field of rare diseases. With the objective to implement a new European plan for rare diseases by 2030, the French EU Council Presidency included the issue in their agenda3.



Since the 2009 EU Council recommendation on an action in the field of rare diseases, scientific progress has yielded new diagnostic and therapeutic options. With their 2019 Report4, the EU Court of Auditors advised the EU Commission to evaluate whether this recommendation needs to be updated or replaced by 2023. In february 2021, the Rare 20305 foresight study called for a new policy framework for rare diseases.

The ESPKU position

The ESPKU is part of the European Rare Disease Community7. Other patients benefitted from scientific achievements for PKU, like newborn screening8. Thus, a future EU Rare Disease Action Plan that takes into account inadequately met needs of PKU and other metabolic patients, will ultimately help the rare disease community as a whole. This includes holistic and multidisciplinary approach on ageing, recognition of the cost-effective nutritional therapy as a medical need and access to innovative treatments.

The ESPKU activities

Already 10 years ago, with their benchmark report6 back in 2011, the ESPKU revealed significant inconsistencies in the management of PKU between EU healthcare economies.  Since then and exemplary for all rare diseases, the ESPKU publically and repeatedly called for standardisation of care, equal access to treatment options and harmonised reimbursement policies accross the EU: In the 21st century, the perspectives of PKU patients must not depend on their birthplace.   

The Cross Party Alliance activities

Members of the PKU Cross Party Alliance MEP‘s Tilly Metz9 (LU), Rosanna Conte9 (IT) and Billy Kelleher9 (IRL) have contributed to a parliamentary debate10 on November 24th 2021. They outlined several patients‘ needs that are inadequately met with the current Rare Disease Policy. A new EU Action Plan must be inclusive and address research and access to diagnosis, treatment and innovative therapies. The focus shall be on supporting people with rare diseases rather than structures and institutes.

You can also check out other Policy Areas addressed by the Cross Party Alliance.


1 European Parliament resolution of 10 July 2020 on the EU’s public health strategy postCOVID-19 (2020/2691(RSP))

2 Council Recommendation of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02)

3 Programme for the French Presidency of the Council of the European Union (page 40)

4 European Court of Auditors Special Report: EU actions for cross-border healthcare - significant ambitions but improved management required

5 Recommendations from the RARE 2030 foresight study

6 PKU: Closing the Gaps in Care. An ESPKU benchmark report on the management of Phenylketonuria within EU healthcare economies

7 EURORDIS Rare Diseases Europe

8 Newborn Screening: History, Future and Awareness Month

9 Tilly Metz, Rosanna Conte, Billy Kelleher

10 Plenary Debate on Rare Diseases