The European Parliamentary Research Service (EPRS) has published a new European Added Value Assessment examining potential EU-level measures on rare diseases.
The document, called “EU rare disease action plan- European Added Value Assessment”, estimates that 27–36 million people in the EU live with a rare disease and maps 31 options that could be considered for an EU rare disease action plan, grouped across six themes: diagnosis and screening; access and affordability of therapies; research and innovation; data sharing and registries; patient and family support, social inclusion and care; and governance and cross-border coordination.
EU-level collaboration is already helping to build capacity, including through the European Rare Disease Research Alliance (ERDERA), which is designed to connect research, clinical expertise and data services across borders, with patient involvement embedded throughout. The assessment also underlines remaining gaps: expertise, patients and data are still dispersed across countries and systems, which continues to slow progress and produce uneven outcomes.
Against that backdrop, the assessment identifies European Reference Networks (ERNs) as a driver of EU added value across the themes, while also pointing to the wider need to link research, clinical practice, data and patient involvement so that promising tools and evidence translate more consistently into real-world care.
Putting diagnosis and access at the centre
Diagnostic delay remains a defining feature of many rare disease pathways. Here, the assessment suggests EU added value could come from coordination, guidance, benchmarking and knowledge-sharing between Member States.
Among the options referenced are expert coordination on newborn screening, stronger links between Orphanet, ERNs and primary care, and expanded use of telemedicine, all framed as ways to reduce fragmentation, accelerate learning and improve equity while respecting national competences.
When it comes to therapies, the assessment draws a practical distinction: EU marketing authorisation does not, on its own, ensure that people can access treatment, because pricing and reimbursement decisions remain national.
It also points to persistent market failures linked to small patient populations, high development costs and fragmented decision-making. In response, it sets out possible EU-level measures such as pooling demand for new treatments, coordinated post-marketing evidence generation, voluntary solidarity-based mechanisms, closer alignment between regulatory and health technology assessment (HTA) processes, as well as targeted support for ultra-rare conditions.
Research, data and shared infrastructure
For research and innovation, the assessment argues that Member States are unlikely to generate, on their own, the critical mass of patients, data and expertise needed to address thousands of rare diseases. It therefore points to the potential added value of EU action that pools resources, aligns research agendas, supports shared infrastructures and embeds patient involvement, including in areas such as next-generation sequencing-based diagnostics and advanced therapies.
Data is treated as a parallel constraint. The assessment describes rare disease data as scarce and fragmented, limiting value for research, care and policymaking even where foundations exist, including Orphanet, the European Rare Disease Registry Infrastructure (ERDRI) and ERN registries.
To make those foundations more usable at scale, it suggests EU action to improve interoperability through common standards, systematic use of ORPHAcodes, federated infrastructures and integration with the European Health Data Space.
Support, inclusion and cross-border coordination
Beyond clinical and research systems, the assessment draws attention to wide variation across Member States in disability recognition, psychosocial support and integrated care for people living with rare diseases and their families.
It identifies potential EU added value in shared frameworks, capacity-building and EU-wide evidence generation to help underpin more integrated, person-centred pathways, alongside approaches that support greater convergence while recognising differences in national systems.
Governance and coordination are presented as the practical enablers. The assessment notes that the impact of ERNs remains constrained by uneven integration, coverage and sustainability, and it points to options that could strengthen national integration and horizontal coordination at EU level, including clearer referral pathways and improved arrangements for virtual cross-border consultations.
What happens next
The assessment is intended to support the European Parliament’s work. Any next steps towards an EU rare disease action plan will depend on how EU institutions and Member States decide to take forward the options it sets out.
For ERDERA, the assessment echoes the rationale for tackling diagnosis, access, research, data and support in a connected way, so that advances in knowledge and capability translate more consistently into patient benefit across borders.
“ERDERA is already working to connect the system, linking funding with clinical expertise, research and innovation, interoperable data infrastructures, and meaningful patient involvement to tackle the fragmentation that is hindering progress,” says ERDERA Coordinator Daria Julkowska.
“The Parliament assessment’s six interdependent themes offer a helpful structure for the next steps, and it highlights the need for research and innovation to sit alongside diagnosis, access, data, support and governance if we want advances to effectively translate into better outcomes for people living with a rare disease.”
