European CMT Federation

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European CMT Federation

European Charcot-Marie-Tooth Federation

The European Charcot-Marie-Tooth (aka CMT) Federation is a nonprofit organization created to unite all the CMT advocacy groups across Europe to help raise awareness and promote better care for people with CMT, the most frequent peripheral neuropathy

24/05/2026

🔬 Clinical Trials & CMT: Where do we stand in research?

During the Educational Seminar at our 2026 General Assembly, we dived deep into the therapeutic journey and the current challenges in developing clinical trials for Charcot-Marie-Tooth disease.

The full video recording of Marzena Nelken’s (EUPATI Expert) session and summary article are now available on the official ECMTF website. This is an essential resource to better understand the direction of scientific research and the vital role patients play in this process.

👉 Watch the video and read the article here: https://ecmtf.org/clinical-trials-the-therapeutic-journey-and-challenges-for-cmt/

06/05/2026

Thank you to everyone who joined the ECMTF 2026 General Assembly and Educational Seminar in Vienna, both in person and remotely.

Over two important days, our community reviewed the federation’s progress, shaped the 2026 roadmap, shared projects and best practices from across member organisations, deepened our understanding of clinical trials and patient engagement, explored learning platforms and digital tools for advocates, and moved forward together on the European CMT Patient Journey❣️

Most importantly, we strengthened the relationships behind this work. Team building matters: every conversation, every shared experience, and every lesson learned from one another makes our federation stronger, more connected, and better prepared to serve the CMT community across Europe.

Thank you to every delegate, speaker, volunteer, and participant for helping turn partnership into progress. Together we are stronger ❤️

01/05/2026

The 2026 ECMTF General Assembly officially takes place today in beautiful Vienna! 🇦🇹

We are incredibly excited to welcome all our members to connect, share important updates, and shape the future of our community together. Looking forward to a productive, inspiring, and engaging day with everyone. See you soon! ✨

24/04/2026

The European CMT Federation (ECMTF) announces the addition of Muskelsvindfonden - Plads til forskelle , the Danish Muscular Dystrophy Association, to its network as a full member.
The organization aims to promote knowledge sharing, community building, and empowerment for individuals living with neuromuscular diseases.

Charcot-Marie-Tooth disease (CMT) constitutes one of the association's largest diagnosis networks.

For further information regarding Muskelsvindfonden's initiatives, please visit the member webpage:
🔗 https://ecmtf.org/members/muskelsvindfonde

13/04/2026

The official Evaluation Report (Deliverable D.1.7) from the 2nd European CMT Specialists Conference is now available, gathering the direct feedback of 60 participants—including scientists, clinicians, and patient representatives. The objective is simple: to analyze what succeeded and to identify exactly where we can improve for future events. 💡

Here is a constructive look at the survey results:
✨ The Strengths: The multi-stakeholder, "patients as partners" framework was a standout success. Attendees highly valued the cross-disciplinary networking and the rigorous scientific quality. An overwhelming 96.7% of respondents felt the selected topics accurately reflected the most relevant aspects of current CMT research!
🌱 Areas for Improvement: The feedback clearly points to a need for more breathing room in the schedule. For future conferences, the community has asked for extended Q&A segments to allow for deeper discussions, structured and guided poster sessions, and a more dedicated focus on pediatric care.

Transparency drives progress. Sharing these insights ensures that the next gathering will be even more impactful, barrier-free, and aligned with the community's needs. Let's continue refining this collaborative model for all rare diseases. 🌍

Read the full list of the conference deliverables here:
🔗 https://ecmtf.org/from-antwerp-to-action-concrete-outcomes-and-strategic-deliverables-of-the-2nd-european-cmt-specialists-conference/

07/04/2026

📏 Among the many outputs of the 2nd European CMT Specialists Conference, the European CMT Federation announces the publication of Deliverable D.5.1, titled "Outcome measures for CMT and other neuromuscular disorders - utility and challenges (overview)."

In a slowly progressive condition such as Charcot-Marie-Tooth disease, assessing the efficacy of a new treatment during standard, short-term observation periods poses a significant clinical challenge.
Because physical changes occur gradually, the development, validation, and standardization of highly sensitive outcome measures are fundamental to accurately perceive whether a therapeutic intervention is working.

This deliverable provides a comprehensive overview of the tools required for clinical trial readiness. It highlights the necessity of composite Clinical Outcome Assessments (COAs), disease-specific Patient-Reported Outcome Measures (PROMs), and objective paraclinical tools—such as quantitative muscle MRI and specific wet biomarkers.

Together, these measures facilitate the early detection of treatment effects and establish a robust evidentiary framework necessary for regulatory evaluations, such as EMA/FDA approval.

The Federation encourages the medical and patient communities to review the full document to understand how these standardized measures are paving the way for future clinical trials.

Read the full deliverable and explore the strategic outcomes of the conference here:
https://ecmtf.org/from-antwerp-to-action-concrete-outcomes-and-strategic-deliverables-of-the-2nd-european-cmt-specialists-conference/ 🔗

29/03/2026

📄 Check the 2CMTSC Deliverable D.4.2, titled "Towards a cure for Charcot-Marie-Tooth: a critical overview on new therapeutic approaches with patients as partners"!

This comprehensive document provides a clinical and biological framework for Charcot-Marie-Tooth disease and reviews the diverse therapeutic strategies currently under development. It extensively details advances in gene-based approaches—such as viral vectors, genome-editing strategies, and RNA interference—aimed at addressing the primary genetic causes of the disease. Alongside these, it outlines pharmacological methods targeting shared downstream pathogenic mechanisms, which may serve as earlier therapeutic options or complement gene therapies. 🧬

Furthermore, the deliverable emphasizes the critical need for sensitive, treatment-responsive biomarkers to overcome the translational challenges presented by the slow clinical progression of the condition. 🔬

A central theme of this report is the indispensable role of patients as active partners in the research continuum. By contributing unique insights into disease burden, symptom variability, and daily outcomes, patients inform trial design and endpoint selection, ensuring that therapeutic assessments remain focused on real-world impact. 🤝

The full deliverable, which includes an extensive listing of planned and ongoing clinical trials, is now available for review. Discover the strategic outcomes of the 2nd European CMT Specialists Conference here:
🔗 https://ecmtf.org/from-antwerp-to-action-concrete-outcomes-and-strategic-deliverables-of-the-2nd-european-cmt-specialists-conference/

25/03/2026

The European CMT Federation announces the release of Deliverable D.4.1, titled "Towards Rehabilitation Guidance for the Management of Adults Living with Charcot-Marie-Tooth Disease" 📄.

Emerging from the 2nd European CMT Specialists Conference, this document addresses a critical gap in current healthcare practices 🌍. While rehabilitation is essential to optimize functioning and reduce disability for individuals with CMT, widespread knowledge among health professionals remains limited , and high-quality guidance for adults is currently sparse 📉.
Furthermore, while pediatric guidelines have been published, an equivalent framework for adults has yet to be elaborated 🏥.

Deliverable D.4.1 outlines a strategic initiative by specialized researchers to develop comprehensive rehabilitation guidance for adults living with the Charcot-Marie-Tooth Disease 🎯.

The document details a rigorous three-stage methodological approach 📋:
✅ The process will integrate evidence synthesis, patient engagement, and expert opinion through consensus methods 🤝.
✅ The initiative will explore implementation factors to ensure the guidelines can be integrated into global practice across diverse healthcare systems in high and low-to-medium income countries 🌐.

The final guidance aims to instruct health professionals and provide a reliable reference for patients attempting to self-manage their condition 💡.

The Federation invites all stakeholders to review the full document on our website to understand the planned stages of this vital research, which will eventually be presented to professional networks and patient organizations internationally 📢.

19/03/2026

🖥️ Artificial Intelligence in CMT Diagnostics: A New Era for Research

The European Charcot-Marie-Tooth Federation (ECMTF) is proud to share Deliverable D.3.2: AI in CMT – Current State and Strategic Recommendations, a key outcome from the 2nd European CMT Specialists Conference (2CMTSC).

How can Artificial Intelligence and machine learning address unmet needs in Charcot-Marie-Tooth disease? This strategic report outlines the transition from classical models to advanced technological integration in clinical settings:

🔹 Precision Electrodiagnostics: Utilizing machine-learning models (like Random Forests) to assist in CMT subtype classification and reduce assessment subjectivity.
🔹 Genetics & Imaging: Applying predictive AI for genetic variant analysis and automated tools for quantifying muscle fat fraction on MRIs.
🔹 The Data Imperative: To move toward generative deep learning, massive amounts of data are required. ECMTF prioritizes the assembly of large, multi-center benchmarking datasets to ensure diagnostic algorithms perform accurately across all European laboratories.

By standardizing these digital tools, we are laying the groundwork to translate AI innovation into reliable, cross-border clinical applications for the CMT community.

📄 Read the full D.3.2 Report here:
https://ecmtf.org/wp-content/uploads/2026/03/D.3.2.-AI-in-Diagnostics-FINAL-.pdf

🔗 Explore all strategic deliverables from Antwerp: https://ecmtf.org/from-antwerp-to-action-concrete-outcomes-and-strategic-deliverables-of-the-2nd-european-cmt-specialists-conference/

16/03/2026

🔬 Clinical Research Update: Topline Results from the SYNAPSE-CMT Phase 2a Study

The European Charcot-Marie-Tooth Federation (ECMTF) brings you the latest scientific updates from the recent 2026 Muscular Dystrophy Association Conference. Pharma has presented the topline results for the SYNAPSE-CMT Phase 2a study, which evaluated the experimental drug ignaseclant in adults with genetically confirmed CMT type 1 and type 2.

Here are the key clinical findings following the 21-day treatment period:
✅ Mechanism & Trial Design: Ignaseclant is a ClC-1 inhibitor designed to enhance muscle activation in diseases with impaired neuromuscular signaling. The trial involved 80 participants in a randomized, double-blind, placebo-controlled setting.
✅ Strength & Mobility: The treatment demonstrated a statistically significant increase in hand grip strength at Day 21 and Day 28 compared to the placebo. Further numerical improvements were observed in foot muscle strength, the 10-meter walk/run performance, and the 9-hole peg test.
✅ Functional Assessments: While the 6-minute walk test (6MWT) showed no treatment effect , researchers noted numerical improvements in the CMT-FOM total score. Additionally, patient-reported outcomes (CMT-HI) showed a higher proportion of positive responders at Day 21 for those on ignaseclant (53.2%) compared to the placebo group (36.8%).
✅ Safety Profile: Ignaseclant was safe and well-tolerated throughout the 21 days. All reported adverse events in the treated group were mild to moderate, no serious adverse events occurred, and no patients discontinued the study drug.

These findings suggest that ClC-1 inhibition is associated with improvements in muscle strength and motor function that persist even 7 days after treatment discontinuation, pointing toward potential structural recovery at the neuromuscular junction. ECMTF remains committed to keeping the European community informed on emerging therapeutic perspectives.

Adres

ECMTF C/o Fondation Universitaire 11
Brussels
B-1000

Website

https://www.ecmtf.org/, https://cmt-awareness.com/, https://tinyurl.com/LetsStepTogether

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