Europe’s time to act on rare diseases

Renewed collaboration at EU level for a new joint strategy on rare diseases could transform the rare disease landscape for patients
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By Anna Kole

Anna Kole is Public Health Policy Director - Rare2030 Project Lead at EURORDIS

21 Feb 2022

The COVID-19 pandemic has taught us many lessons, most importantly that healthcare systems are only as strong as their readiness to protect their most vulnerable citizens. Europe has a unique chance to improve the lives of the 30 million citizens living with a rare disease, across its 27 Member States.

EURORDIS-Rare Diseases Europe, alongside over 250 key opinion leaders and thousands of patients, has conducted a two-year foresight study, Rare 2030, initiated by the European Parliament and funded by the European Commission. Last year, this brought a consensus on what rare disease policies in Europe should be for the next decade, including the recommendation for a renewed European framework for rare diseases to bridge the gap between policy areas and countries. Since then, over 2100 people have supported this with their own reasons for change.  


READ MORE: This article is published as part of our special supplement looking at how Europe can come together to find solutions for people suffering from a rare disease. To read the full supplement click here. 


In December 2021, Europe’s Member States individually confirmed their commitment to rare diseases by adopting and, in some cases, co-sponsoring the first UN Resolution on Addressing the Challenges of Persons with Rare Diseases and their Families - taking this community out of the shadows. Doing this, the European Union as a whole has acknowledged the impact of rare diseases on access to education and decent work, gender equality, and inclusion in society. The call from EU Member States is not in isolation. The European Parliament recently asked the Commission to urgently introduce an Action Plan for Rare Diseases to manage them in a more efficient and forward-thinking way, led by MEP Frédérique Ries, followed by a letter from over 41 MEPs.

Rare diseases are defined in Europe as a disease that affects one in 2000 citizens: collectively 30 million citizens in Europe

To bring it to the attention of the European Commission and to take the first step towards the official adoption of the action plan, the Trio EU Council Presidency of France, Czech Republic and Sweden have included rare diseases in the programme of their priorities. Between 2022 and July 2023, the Trio will hold a series of events, opening with a High-Level Conference organised by France’s Ministry of Health and Solidarity on the occasion of Rare Disease Day, which will bring together key policy makers to set out recommendations for change to European legislation on rare diseases. The main objective will be to lay out the European Union's roadmap in this area and to collectively prepare for the adoption of a European plan for rare diseases - a comprehensive framework connecting the dots between different national and EU initiatives and policy areas.

As a traditionally isolated population, with over 6000 diverse diseases, working at the European level adds enormous value to the people living with a rare disease

But why do we need a European approach for our rarest citizens? Rare diseases are defined in Europe as a disease that affects one in 2000 citizens: collectively 30 million citizens in Europe. As a traditionally isolated population, with over 6000 diverse diseases, working at the European level adds enormous value to the people living with a rare disease: from receiving treatment abroad to connecting European experts and collaborating on joint research. The main reason is to reach the needed threshold of data and investments and finally to put into action the non-binding principles introduced in the UN resolution.

Many of the current legislative files will benefit from this streamlining. The field of rare diseases is ideally positioned to both contribute to and benefit from the upcoming European Health Data Space. While the Review of the Orphan Medicinal Products Regulation later in 2022 will be an unprecedented opportunity to improve access to innovative treatments for people living with a rare disease; currently only 6% of diseases have a treatment.

The last European rare disease strategy was over a decade ago, in 2009. Since then, science, technology and most recently our approach to public health has changed. Despite calls from the European Court of Auditors in 2019 to revise, update or renew this, no concrete action has been taken to bring all the relevant legislative areas that serve as building blocks for rare diseases - namely data, pharmaceutical legislation, healthcare, research, social care, and inclusion - under one umbrella. Doing so would ensure that investments continue to be optimised and that progress made is not reversed across all areas and remove the silos that exist for this vulnerable population. The time for Europe to act is now.

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