By Maria Wouters Rentero, Account Director, Incisive Health
As we celebrate Rare Disease Day 2024, we want to look at how a European Action Plan would impact those living with a rare disease in the EU and pave the way for a brighter future for the whole community.
As many as 36 million people in the European Union live with a rare disease. The EU encompasses over 6,000 unique rare diseases - while some may only affect a limited number of patients, others may impact up to 245,000 individuals[i]. However, despite the significant number of people living with a rare disease, diagnosis and access to one of the 230 authorised orphan medicines in the EU can take up to five years on average[ii]. With this in mind, a coordinated European Rare Disease Action Plan would streamline research efforts, improve diagnostic pathways, expedite access to innovative treatments, and foster collaboration among stakeholders. Ultimately, this would not only enhance the quality of life for those living with rare diseases but also promote equity, innovation, and social inclusion throughout the European Union and beyond.
A distinct call for European action
The first reference to a European strategy or action plan dates back to 2008 when the European Commission published their Communication on “Rare Diseases: Europe's Challenges”, calling for the development of a comprehensive European strategy to address the needs of individuals living with rare diseases[iii]. This Communication laid the groundwork for initiatives aimed at improving research, diagnosis, treatment and support for rare disease patients across the European Union.
Since then, patient organisations, Members of the European Parliament (MEPs) and Member States, have all called for the adoption of a European Rare Disease Action Plan that would provide a clear framework for all stakeholders.
Above all, EURORDIS (European Organisation for Rare Diseases), the non-profit alliance representing rare disease patient organisations in Europe, has worked to make patients’ voices heard. The publication of the Rare 2030 Foresight Study[iv] - which includes clear recommendations and a vision for the Action Plan – and the launch of the campaign #30millionreasons offer two great examples. The upcoming leadership change within EURORDIS opens a strategic window of opportunity to actively engage with European stakeholders, advance the implementation of the organisation’s Rare 2030 strategy and ultimately advocate for the adoption of the long-awaited Action Plan.
In addition, Member States have shown a strong commitment to advance the rare disease agenda at a national level. Following a bottom-up approach, Member States including France, Italy and Spain have all demonstrated their willingness to act for patients by adopting national action plans or strategies. This strong commitment was echoed by a number of Presidencies of the Council of the European Union, first initiated by France[v], confirmed by Czechia with the launch of a call to action signed by 21 Member States[vi] and continued by Sweden, Spain and Belgium.
Finally, the European Parliament has not lagged behind. MEPs commitment to the rare disease patient community during this 9th term was demonstrated through numerous parliamentary questions[vii] [viii] [ix] [x] and a plenary debate on the need to adopt a comprehensive framework for rare diseases[xi]. Moreover, on Rare Disease Day 2023, 48 MEPs co-signed a letter addressed to the President of the European Commission, Ursula von der Leyen, reiterating their call for a European Rare Disease Strategy[xii].
The upcoming European elections, taking place on 9 June, will serve as a crucial moment for the patient community and for industry to continue driving this momentum forward with a new set of stakeholders.
A decisive moment to be bold for rare disease patients in Europe
It is clear that the upcoming European elections present a significant opportunity for advancing the agenda for rare disease patients. As Ursula von der Leyen prepares for a second mandate and a new College of Commissioners prepares to take on its responsibilities, there is a unique opportunity to profile and demonstrate the executive’s commitment to addressing the needs of the rare disease community; ideally, by making the European Rare Disease Action Plan a priority in the new mandate.
In addition, the ongoing revision of the General Pharmaceutical Legislation, of which the Orphans Medicinal Products Regulation is a part, is a key step in constructing a robust framework to tackle the unmet medical needs faced by the rare disease patient community. Conversations (and negotiations) on the proposal will continue in the upcoming months, and until its implementation – likely in 2026. This is just a piece of the puzzle and additional action is needed to support a more comprehensive and holistic framework that will ultimately benefit patients.
Clearly, the political will for the adoption and implementation of a European Rare Disease Action Plan is there, and stakeholders stand ready to support the rare disease community. 2024 is a year of opportunity in this sense: opportunity to harness upcoming developments and prioritise a Rare Disease Action Plan to drive innovation in Europe for the benefit of all patients.
[i] European Commission, European Commission, https://health.ec.europa.eu/european-reference-networks/rare-diseases_en
[ii] International Rare Diseases Research Consortium, RD metrics, https://irdirc.org/resources-2/rd-metrics/
[iii] European Commission, Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and the Committee of the Regions on Rare Diseases: Europe’s Challenges, 11 November 2008, https://ec.europa.eu/health/ph_threats/non_com/docs/rare_com_en.pdf
[iv] Rare 2030, Foresight in Rare Disease Policy, https://www.rare2030.eu/
[v] Conférence ministérielle sur les parcours de soin et d’innovation pour une politique de l’UE des maladies rares, 28/02/2022, https://sante.gouv.fr/archives/archives-presse/archives-communiques-de-presse/article/conference-ministerielle-sur-les-parcours-de-soin-et-d-innovation-pour-une
[vi] Call to Action from the Expert Conference on Rare Diseases Towards a new European policy framework on rare diseases: “Building the future together for rare diseases”, 25 and 26 October 2022, https://download2.eurordis.org/cz_pres_2022_call_to_action.pdf
[vii] Question for written answer E-000365/2022 to the Commission, Awareness-raising of the need for an action plan for rare diseases and the need to tackle health inequalities in the EU, 28/01/2022, https://www.europarl.europa.eu/doceo/document/E-9-2022-000365_EN.html
[viii] Question for oral answer O-000068/2021 to the Commission, EU action plan on rare diseases, 18/10/2021, https://www.europarl.europa.eu/doceo/document/O-9-2021-000068_EN.html
[ix] Question for oral answer O-000069/2021 to the Commission, EU action plan on rare diseases, 18/10/2021, https://www.europarl.europa.eu/doceo/document/O-9-2021-000069_EN.html
[x] Question for oral answer O-000070/2021 to the Commission, EU action plan on rare diseases, 18/10/2021, https://www.europarl.europa.eu/doceo/document/O-9-2021-000070_EN.html
[xi] Debate, A European Action Plan Against Rare Diseases, 24/11/2021, https://www.europarl.europa.eu/doceo/document/CRE-9-2021-11-24-ITM-016_EN.html
[xii] Letter Rare Disease Day call for a European strategy on rare diseases, 28/02/2023, https://download2.eurordis.org/pressreleases/MEPs_Letter_Rare_Disease_Day_2023.pdf