Edition of 30 January 2024

As the new year begins, EURORDIS has announced their strategic pathways and collaborative endeavours for the upcoming year. This year represents a critical opportunity for the organisation, given the upcoming EU elections and approaching objectives for 2030. Thus, their commitment to advocating for Europeans living with a rare disease remains stronger than ever.

EURORDIS’ strategic priorities for this year are centred around pushing for a European Action Plan for Rare Diseases through intensified policy advocacy. More specifically, their agenda consists of:

• Influencing the new EU Parliament and Commission following the elections in June;
• The “Championing the Rare” campaign (#ActRare2024), which will launch on Rare Disease Day and aims to amplify the voice of the rare disease community;
• Strengthening member organisations and networks for greater impact, particularly in South-East and Eastern Europe and countries with emerging national rare disease plans;
• Advancing healthcare and research through pioneering initiatives such as the European Rare Disease Research Alliance and the Rare Disease Moonshot.

On the collaboration front, in 2024 EURORDIS aims to promote rare diseases as a global health priority by strengthening engagement with international stakeholders. Key activities in this domain include:

• Advocacy at the United Nations, building on the momentum generated by the Political Declaration on UHC in 2019 and the UN Resolution on Persons Living with a Rare Disease in 2021;
• Fostering international alliances and partnerships;
• Advocating for global healthcare pathways.

Overall, EURORDIS’ priorities for 2024 are both ambitious and important. Through activities such as those outlined above, the organisation will continue fighting for improved policy at both the European and global level. Ultimately, this will lead to better care, diagnosis, and treatment options for all people living with a rare disease.

The EMA has published highlights from their human medicines activities during 2023, particularly key figures on the recommendations they issued for marketing authorisation. In total, 77 medicines were recommended, with 39 containing a new active substance which had no prior EU authorisations. Notably for the rare disease community, 17 of the medicines recommended for authorisation carried an orphan designation, 1 of which was an advanced therapy medicinal product (ATMP). Specific drugs which seem to carry particular promise include:

• Skyclarys, for the treatment of Friedreich’s ataxia
• Loargys, for the treatment of hyperargininaemia
• Casgevy (ATMP), for the treatment of transfusion-dependent beta-thalassemia and severe sickle cell disease; this is the first approved medicine created using CRISPR/Cas9

Other highlights from the report include updates on conditional marketing authorisations, accelerated assessments, and medicines repurposing.

A new article has been published in The Lancet Regional Health – Europe discussing the strategies necessary to attain universal health coverage for rare diseases at the European level. While significant advances have been made in improving the health of the general population, the specific needs and challenges of the rare disease community have left them still with a substantial amount of unmet medical need. These challenges include delayed diagnosis, limited treatment options, and the psychosocial burden of disease. In order to fill this gap, the article advocates for the importance of measures such as establishing Centres of Excellence to consolidate expertise; defining and implementing efficient care pathways; fostering research collaboration; and, ultimately, promoting patient-centred care. By prioritising efforts such as these, the author posits that Europeans living with a rare disease can achieve the same level of equitable, high-quality healthcare currently experienced by the population at large.