ECMTF contributed to the Blueprint • October 2026
From fragmented initiatives to a coordinated EU Action Plan
The European CMT Federation (ECMTF) contributed to the development of the European Blueprint for Rare Diseases, a community-led initiative coordinated by EURORDIS–Rare Diseases Europe. Published in October 2026, it sets out a practical framework for turning European cooperation into better outcomes for people living with rare diseases.
Policy status: The Blueprint is a set of proposals developed by the rare disease community. It is not an EU Action Plan already adopted by the European Union.
The case for action
Europe has built the foundations. It now needs to connect them.
Over several decades, the EU has supported important rare disease initiatives, including the European Reference Networks (ERNs), Orphanet, the orphan medicinal products framework and the European Rare Diseases Research Alliance (ERDERA). Yet these resources often operate across different programmes, funding cycles and national systems. As a result, access to timely diagnosis, specialist care, treatment and social support remains unequal.
The Blueprint argues that Europe should strengthen and coordinate what already exists rather than create parallel structures. An EU Action Plan could align national efforts around shared objectives, sustained investment and measurable results, while respecting Member States’ responsibilities for healthcare.
Figures reported in the EURORDIS Blueprint Executive Summary (October 2026); they describe broader European rare disease challenges, not CMT-specific outcomes.
The proposed roadmap
18 priority actions across six interconnected areas
The Blueprint translates the community’s priorities into six areas of European added value. Each area contains three proposed actions:
Earlier and more accurate diagnosis
Structured referral pathways, coordinated guidance on newborn screening and wider access to genetic testing and genomic sequencing.
Specialised healthcare
Updated national rare disease plans, a sustainable and better-integrated ERN framework and improved cross-border access to highly specialised care.
Integrated care and social inclusion
Person-centred care pathways, stronger access to social support and formal involvement of patients and families in service design.
Connected rare disease data
Systematic use of ORPHAcodes, stronger patient registries and data linkage, and integration with the European Health Data Space.
Needs-led research and innovation
Better-aligned EU research investment, meaningful patient partnership and sustainable, interconnected research infrastructures.
Accessible treatments and devices
More consistent evidence generation and assessment, stronger compassionate-use frameworks and coordinated mechanisms to improve access.
From recommendations to implementation
Governance, funding and accountability are essential
The proposed approach is not limited to a list of policy priorities. It identifies the conditions needed to implement them: common goals and measurable targets, a multi-stakeholder advisory structure that includes patient representatives, coordinated EU and national funding, transparent monitoring and independent evaluation.
EURORDIS calls on the European Commission to propose an EU Action Plan on Rare Diseases, with dedicated resources in the 2028–2034 Multiannual Financial Framework. It also calls on the Council and Member States to support a renewed Council Recommendation on rare diseases by the end of 2027.
The rationale for acting at European level is compelling: according to the Blueprint, approximately 85% of rare diseases affect fewer than 500 people in the EU. Sharing expertise, data and research capacity across borders is therefore fundamental to improving equity and accelerating progress.
ECMTF perspective
Why this matters for the Charcot–Marie–Tooth community
For people living with Charcot–Marie–Tooth disease (CMT) and other rare inherited neurological conditions, the Blueprint’s emphasis on timely and accurate diagnosis, specialised cross-border expertise, connected registries, patient-centred care and equitable access to research and innovation is particularly relevant.
ECMTF’s contribution to the Blueprint forms part of a wider collaborative effort involving patient organisations, clinicians, researchers, public authorities and industry. It reinforces the importance of ensuring that the experience of people affected by CMT is represented in the European rare disease policy conversation.
