Conclusions of the Conference on Rare Diseases and European Reference Networks

The conclusions and recommendations of the conference on Rare Diseases and European Reference Networks “How to ensure European solidarity for patients?” are now available. The conference was organised by the Spanish presidency of the EU Council, and was held in October 2023 in Bilbao, Spain. It aimed to take stock of what has already been achieved for rare diseases (RD) in the domain of European policy, as well as address some of the current policy-related challenges facing the RD community and European Reference Networks (ERNs). This responded to both the call for action of the former Czech presidency of the Council, and the political priorities of the previous trio of presidencies.

The conference brought together stakeholders from all parts of the rare disease community, as well as political actors and decision-makers at the European level. Together, they sought to address four main challenges:

• Strengthening and integrating ERNs and national networks of highly specialised providers;
• Integrating social and health care for patients with rare diseases;
• Gaps in research priorities and resources;
• Affordability and development of new treatments and therapies.

Following an overview of recent achievements, such as the establishment of ERNs and the European Platform on Rare Disease Registries, the European Health Data Space legislation, and the planned Partnership on Rare Diseases under Horizon Europe, the conference discussed current areas of improvement to better meet the needs of the rare disease community. Ultimately, the following conclusions and recommendations were reached:

• A need for a European Action Plan on Rare Diseases by the time the new European Commission takes office in 2024, along with a European Solidarity Fund to make up for gaps in universal health coverage and a renewed focus on innovation;
• The importance of further strengthening and integrating ERNs into national healthcare systems, with a particular focus on financial sustainability and cross-border data sharing;
• Promoting the generation, exchange and application of knowledge through measures such as integrating training on RD into medical education, improving the dissemination of clinical practice guidelines (including patient-friendly versions), and evidence-based newborn screening strategies;
• Improving collaboration and data sharing, coordinated care, harmonisation of regulatory pathways, and more in order to meet the remaining challenges related to RD.

These conclusions and recommendations are publicly available online, in addition to having been sent to all participants, the European Parliament and Commission, and the health ministries of EU Member States. In particular, they will be forwarded to the incoming Belgian presidency of the EU Council.