From October 23 to 25, 2025, researchers, clinicians, and patient representatives gathered in Antwerp for the 2nd European CMT Specialists Conference, an event that highlights how Charcot-Marie-Tooth research is advancing through European collaboration.

As part of the European Federation, we provide the full archive of video materials and a summary of the scientific content not recorded, offering professionals, researchers, and patients a clear and updated overview of the main outcomes.

Learning more means becoming part of the change.

👉 Official Conference Article (ECMTF)

🎥 Conference Video Archive

Full playlist of the presentations:

Behind-the-scenes Interviews
Available in the official playlist.

These are the main audiovisual materials provided by the organizers. Videos are in English; we recommend enabling automatic subtitles.

📄 Summary of Non-Recorded Presentations

To ensure comprehensive coverage of the event, we provide a summary of the sessions that were not recorded, which offered significant contributions to understanding CMT mechanisms, advancing diagnostic technologies, and developing new therapies.

1. Genetics of CMT

• Identification of new genes associated with rare or less characterized forms of CMT, expanding diagnostic capabilities.
• Development of AI-based approaches for classifying genetic variants, improving diagnostic speed and accuracy.
• Urgent need for shared European databases integrating genetic and phenotypic data, supporting early diagnosis and interpretation of variants of uncertain significance (VUS).

These advances confirm the central role of genetics as the foundation for future diagnostics and therapies.

2. Cellular and Animal Models

• Use of iPSC-derived neurons to model specific mutations in vitro and study pathogenic mechanisms.
• Development of innovative and more accessible animal models to study axonal degeneration and test potential treatments.
• New evidence on the role of mitochondrial dysfunction, particularly in axonal forms such as CMT2A, suggesting a key involvement of energy metabolism in peripheral nerve vulnerability.

These tools form the basis for the preclinical validation of future therapies.

3. Emerging Therapies

• Molecules capable of modulating cellular pathways involved in nerve degeneration.
• Preliminary studies on gene therapy and gene silencing aimed at correcting or silencing disease-causing mutations.
• Increasing emphasis on subtype-specific therapies, acknowledging the high heterogeneity of CMT.

These approaches represent a significant step toward more effective and personalized treatments.

4. Biomarkers and Outcome Measures

• Identification of biomarkers based on neurofilaments and other indicators of axonal degeneration.
• Development of more sensitive and standardized clinical scales capable of detecting even minimal clinical changes.
• Definition of shared protocols among major European centers to harmonize clinical, instrumental, and functional evaluations.

These advancements will improve the quality, reliability, and comparability of data collected in future clinical trials.

5. Young Researchers and Future Priorities

• Mentoring initiatives and presentation of innovative research projects.
• Opportunities for interdisciplinary networking and exchange.
• Definition of research priorities for the coming decade, including:
  • earlier diagnosis,
  • international standardization of outcome measures,
  • subtype-specific therapeutic development,
  • strengthening European data-sharing infrastructures.

The involvement of young researchers is essential to ensure continuity, innovation, and the ability to address emerging challenges in neuromuscular research.

6. International Collaboration

• Need for shared networks integrating genetic, clinical, and functional data.
• Importance of coordinated multicenter studies, crucial for a rare and heterogeneous condition such as CMT.
• Central role of patient organizations in advocacy, communication, and engagement with institutions and the scientific community.

Building a strong European network is essential to accelerate progress and improve patient care.

🤝 A Shared Commitment

The 2nd European CMT Specialists Conference reaffirmed the importance of an integrated approach built on collaboration between science, clinical care, and the patient community. We express our sincere thanks to Ingolf Pernice and the entire organizing team for their outstanding work.