Europe’s rare disease challenge: making existing systems work for Charcot-Marie-Tooth disease

Published on May 13th, 2026

Why CMT must be part of the next European rare disease agenda

Rare diseases remain one of Europe’s most complex public health challenges. They affect millions of people, often involve chronic and disabling conditions, and require forms of expertise that are unevenly distributed across countries, regions and healthcare systems.

For the Charcot-Marie-Tooth disease community, this challenge is concrete. CMT is a rare neurological condition affecting the peripheral nerves of the arms and legs. It causes progressive muscle weakness and wasting, mainly in the lower legs, feet, hands and forearms, and can lead to varying degrees of disability.

CMT also illustrates a broader issue in European rare disease policy: the problem is no longer simply the absence of initiatives. Europe already has important rare disease and neuromuscular infrastructures, including European Reference Networks, ERN EURO-NMD, CPMS, ORPHAcodes, common data elements, and the EURO-NMD Registry Hub. The real challenge is ensuring that these systems are consistently implemented, adequately funded, interoperable, patient-centred and effectively connected to national care pathways.

This is why the European Blueprint for Rare Diseases, coordinated by EURORDIS, is strategically important. The Blueprint aims to define coherent policy actions, priorities and measures to strengthen rare disease policy across Europe. For ECMTF, the central message is clear: Europe should not duplicate existing structures, but make them work better for people living with CMT.

From isolated initiatives to an operational European ecosystem

Over the past two decades, Europe has built several important rare disease tools. However, many people with CMT still experience delayed diagnosis, fragmented care, limited access to specialised services, insufficient rehabilitation support, and uncertainty about future access to emerging therapies.

This gap between available infrastructure and patient-level impact is the key policy issue.

For CMT, Europe does not need parallel systems that compete with existing initiatives. It needs:

  • better integration of CMT into ERN EURO-NMD and national neuromuscular pathways;
  • systematic use of CPMS for complex or unresolved cases;
  • stronger connection between CMT-specific registries and the EURO-NMD Registry Hub;
  • harmonised use of ORPHAcodes and rare disease common data elements;
  • sustained support for patient-led data governance;
  • equitable access to diagnosis, rehabilitation, clinical trials and future treatments.

ERN EURO-NMD is already the European Reference Network dedicated to rare neuromuscular diseases. It brings together expertise for conditions that are major causes of lifelong disability in both children and adults. The task now is to ensure that this expertise becomes more visible and accessible to people living with CMT across Europe.

1. Diagnosis: from genetic complexity to coordinated pathways

CMT is not a single uniform condition. It is a heterogeneous group of inherited neuropathies, with multiple genetic subtypes, variable clinical severity and different inheritance patterns. This complexity makes accurate diagnosis challenging, particularly when early symptoms are mild, non-specific or misinterpreted.

Patients may first present with foot drop, pes cavus, ankle instability, frequent falls, distal weakness, sensory loss, pain, fatigue or impaired hand function. These symptoms may be seen by general practitioners, paediatricians, orthopaedic specialists, physiotherapists or neurologists before CMT is suspected.

The issue is not only awareness. It is also pathway design. Many healthcare systems still lack clearly defined routes from first symptoms to neuromuscular expertise, electrophysiology, genetic counselling and genetic testing.

Europe already has tools that can help address this. ORPHAcodes provide a common rare disease nomenclature designed to improve the visibility of rare diseases in healthcare and research systems. The European Commission’s Joint Research Centre has also defined a set of 16 common data elements considered essential for rare disease registries across Europe.

For CMT, the next step is implementation. Genetic diagnosis should be supported by:

  • equitable access to appropriate genetic testing;
  • specialist interpretation of variants of uncertain significance;
  • genetic counselling for patients and families;
  • re-analysis pathways for unresolved cases;
  • consistent use of ORPHAcodes and structured diagnostic data;
  • referral mechanisms connecting national services with ERN expertise.

The objective is not simply to produce a diagnosis. It is to ensure that diagnosis becomes the entry point to appropriate care, family counselling, research participation and future therapy access.

2. Specialist care: embedding ERN expertise into national systems

ERN EURO-NMD provides a European framework for rare neuromuscular expertise. However, the existence of a European network does not automatically guarantee access for every patient.

For many people with CMT, care remains fragmented. Neurological follow-up, rehabilitation, orthotic support, pain management, orthopaedic assessment, psychological support, occupational therapy and social services may be poorly coordinated. Patients and families are often left to navigate the system themselves.

The Clinical Patient Management System (CPMS) already offers a secure, GDPR-compliant platform to support cross-border discussion of rare and complex cases. The European Commission describes CPMS as a tool used by ERNs to provide guidance to doctors through cross-border discussion of rare clinical cases.

For CMT, CPMS and ERN expertise could be especially valuable in:

  • atypical or diagnostically unresolved neuropathies;
  • complex genotype–phenotype interpretation;
  • severe paediatric presentations;
  • rare CMT subtypes;
  • cases requiring multidisciplinary input;
  • clinical trial eligibility assessment.

The policy priority is therefore not to create a new European expert network for CMT, but to ensure that CMT patients can actually benefit from the expertise already available through ERN EURO-NMD.

This requires stronger links between:

  • national neuromuscular centres;
  • ERN-affiliated healthcare providers;
  • genetic diagnostic laboratories;
  • rehabilitation services;
  • patient organisations;
  • primary and community care.

3. Rehabilitation and daily-life support: making care truly holistic

For most people living with CMT today, management is based on supportive and symptomatic care. This does not make care secondary. On the contrary, rehabilitation, orthoses, physiotherapy, occupational therapy, pain control and assistive technologies are central to preserving function, autonomy and quality of life.

CMT can affect walking, balance, hand function, endurance, pain, fatigue, employment, education and social participation. Yet access to rehabilitation and assistive devices remains highly variable across Europe.

A credible European rare disease strategy must recognise that innovation is not limited to medicines. For CMT, meaningful progress includes:

  • early access to physiotherapy and rehabilitation;
  • appropriate ankle-foot orthoses and adapted footwear;
  • occupational therapy for hand function and daily activities;
  • management of pain and fatigue;
  • prevention of falls and secondary complications;
  • psychological support;
  • workplace and school adaptations;
  • support for carers and families.

This is especially important because CMT-related disability may be progressive and sometimes insufficiently visible. Patients may face significant functional limitations even when symptoms are not immediately apparent to employers, schools, public authorities or healthcare professionals.

4. Data and registries: connect what already exists

One of the most important corrections in rare disease policy language is this: Europe does not need to start from zero on neuromuscular data.

The EURO-NMD Registry Hub already exists. It is designed to collect data from neuromuscular patients seen by the healthcare providers participating in EURO-NMD, and it also allows existing disease-specific registries to connect through a FAIR-based federated infrastructure. The EURO-NMD registry model supports GDPR-compliant information exchange and links registry data through an interoperability layer.

At the same time, CMT-specific and inherited neuropathy registry initiatives already exist or are emerging. ECRA, the European CMT Research Association, has identified the establishment of a European patient-led CMT registry/health database as one of its priorities.

The task is therefore not to duplicate registry infrastructure. It is to build a connected CMT data ecosystem that can interact with existing platforms.

For CMT, registry development should focus on:

  • interoperability with the EURO-NMD Registry Hub;
  • alignment with EU rare disease common data elements;
  • use of ORPHAcodes and standardised phenotyping;
  • patient-reported outcomes and patient-reported experience measures;
  • natural history data;
  • genetic and clinical subtype information;
  • rehabilitation, orthotic and quality-of-life data;
  • trial readiness and cohort identification;
  • GDPR-compliant governance;
  • meaningful patient control and transparency.

CMT data should not remain fragmented across disconnected national, clinical, academic or patient-led initiatives. The objective should be a FAIR, federated, patient-governed data environment that supports research while protecting individual rights.

5. Research and trial readiness: building on European coordination

CMT research has entered a more mature phase. Advances in genetics, molecular mechanisms, biomarkers, outcome measures and therapeutic development are creating new opportunities. However, translation into patient benefit remains difficult.

CMT research faces several specific challenges:

  • small patient populations for individual subtypes;
  • slow progression in some forms of the disease;
  • limited natural history data;
  • difficulty selecting sensitive outcome measures;
  • variable clinical follow-up across countries;
  • fragmented access to trial-ready cohorts;
  • insufficient integration of patient-relevant outcomes.

This is precisely where European coordination matters. ERN EURO-NMD, the EURO-NMD Registry Hub, ECRA, ECMTF, national patient organisations, academic centres and industry partners all have complementary roles.

Recent European CMT initiatives have emphasised the need for coordination, data sharing, secure platforms, professional training, patient involvement and public awareness. The creation of ECRA reflects this need to strengthen European cooperation between researchers, clinicians, patient organisations and other stakeholders.

For ECMTF, the research message should be pragmatic: Europe must support CMT research not through isolated projects alone, but through a durable ecosystem for:

  • natural history studies;
  • biomarker validation;
  • harmonised clinical assessments;
  • patient-reported outcomes;
  • trial-ready registries;
  • cross-border recruitment;
  • patient-centred study design;
  • long-term follow-up and real-world evidence.

6. Future therapies: preparing access before treatments arrive

Although CMT currently remains largely managed through supportive care, the therapeutic landscape is evolving. Genetic and molecular approaches are becoming increasingly relevant across rare diseases, and CMT research is moving toward more targeted strategies.

This creates an important policy question: if new therapies become available, will CMT patients across Europe have equitable access?

The answer will depend on decisions made before therapies reach the market. Europe must prepare now by ensuring that CMT patients have:

  • accurate molecular diagnosis;
  • access to specialist centres;
  • inclusion in registries and natural history studies;
  • validated outcome measures;
  • real-world evidence infrastructures;
  • clear reimbursement pathways;
  • patient-relevant assessment criteria.

For CMT, value assessment should not focus only on narrow clinical endpoints. It should also consider mobility, hand function, falls, pain, fatigue, independence, work participation, educational inclusion and quality of life.

This is particularly important for rare, progressive and genetically defined conditions, where traditional trial designs and large datasets may not always be feasible.

7. Patient organisations: from consultation to co-governance

The European CMT Federation has a central role in ensuring that CMT policy is not designed only around clinical systems, but also around lived experience.

ECMTF is a federation of European national organisations supporting people affected by CMT. Its role is not limited to awareness raising. Patient organisations are essential partners in research prioritisation, registry governance, trial design, outcome selection, policy advocacy and communication with affected families.

For CMT, patient involvement must move beyond consultation. It should become structured co-governance.

This means that ECMTF and national CMT organisations should be involved in:

  • defining patient-relevant outcomes;
  • designing registry consent and data governance models;
  • setting research priorities;
  • advising on clinical trial feasibility;
  • supporting recruitment and communication;
  • shaping rehabilitation and care standards;
  • contributing to European rare disease policy discussions;
  • monitoring whether European initiatives produce real patient benefit.

Patient organisations should also receive adequate recognition and resources. Sustainable participation requires funding, training, administrative capacity and formal roles in decision-making structures.

8. The European Blueprint: a strategic opportunity for CMT

The EURORDIS European Blueprint for Rare Diseases is an opportunity to shift Europe from fragmented rare disease initiatives toward coordinated implementation. It aims to define policy actions, priorities and measures that can strengthen rare disease policy across Europe.

For the CMT community, the Blueprint should not be seen as a distant policy exercise. It is directly relevant to diagnosis, care, rehabilitation, research, data, access and patient participation.

CMT should be visible in the Blueprint because it represents many of the structural challenges Europe needs to solve:

  • genetic heterogeneity;
  • delayed diagnosis;
  • progressive disability;
  • uneven access to neuromuscular expertise;
  • limited disease-modifying treatment options;
  • need for lifelong rehabilitation;
  • need for interoperable registries;
  • need for trial readiness;
  • need for fair future access to therapies.

The Blueprint should also recognise a central implementation principle: existing European infrastructures must become usable and visible at patient level. For CMT, success will be measured not by the number of European initiatives created, but by whether patients experience faster diagnosis, better coordinated care, stronger research opportunities and fairer access across countries.

blueprint proposals rare disease EU

ECMTF’s policy priorities for Europe

ECMTF calls for a European rare disease agenda that strengthens what already exists and ensures that people with CMT benefit from it in practice.

1. Embed CMT into national neuromuscular pathways

Patients with suspected or confirmed CMT should have clear referral routes to neuromuscular expertise, including ERN-affiliated centres where appropriate.

2. Use ERN EURO-NMD and CPMS more systematically

ERN expertise and CPMS should be used more effectively for complex, rare or unresolved CMT cases requiring cross-border specialist input.

3. Harmonise access to genetic diagnosis

CMT patients across Europe should have equitable access to genetic testing, expert variant interpretation, counselling and re-analysis when diagnosis remains unresolved.

4. Connect CMT data to existing European infrastructures

CMT-specific registries and health databases should be interoperable with the EURO-NMD Registry Hub, national neuromuscular registries and European rare disease data standards.

5. Make CMT registries patient-centred and research-ready

Registries should capture not only genetic and clinical data, but also patient-relevant outcomes, quality of life, rehabilitation needs, functional impact and trial-readiness information.

6. Recognise rehabilitation as a core rare disease intervention

Physiotherapy, orthoses, occupational therapy, pain management, psychological support and assistive technologies should be recognised as essential components of CMT care.

7. Support European CMT research coordination

Europe should invest in natural history studies, biomarkers, outcome measures, patient-reported outcomes and cross-border trial networks for CMT.

8. Prepare fair access pathways for future therapies

Health technology assessment, reimbursement and real-world evidence models must be adapted to rare, progressive and genetically defined diseases such as CMT.

9. Ensure patient co-governance

ECMTF and national CMT organisations should be recognised as structured partners in research, registry governance, care pathway design and policy implementation.

Conclusion: Europe has the tools. CMT patients need them to work.

The European rare disease challenge is no longer only about creating new structures. Many of the necessary tools already exist: ERN EURO-NMD, CPMS, the EURO-NMD Registry Hub, ORPHAcodes, common data elements, national registries, patient organisations and emerging CMT-specific research initiatives.

The challenge is implementation.

For Charcot-Marie-Tooth disease, Europe must now ensure that these systems are connected, interoperable, funded, patient-governed and embedded into national healthcare pathways. CMT patients should not depend on geography, personal persistence or chance access to expertise.

The EURORDIS European Blueprint for Rare Diseases offers a timely opportunity to move from fragmented progress to coordinated action. ECMTF’s message is clear: CMT must be part of this agenda — not through duplication, but through stronger use of the European infrastructures already available.

Europe has built many of the tools. The next step is to make them work for every person living with CMT.

To read latest news