Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease

This is a 2-year follow-up study of a cohort of 35 CMT1A patients and 20 healthy volunteers. The main objective is identifying prognostic markers for CMT1A using multi-omics analysis. The study is recruiting subjects between the ages of 10 and 30. The most common inherited neuropathy is Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of the gene expressing PMP22. CMT1A patients develop symptoms in early childhood with variable progression and there is no established therapy until now. Therapy must start in childhood, before peripheral nerves degenerate. However, we lack easily obtainable biomarkers in early disease stages. In CMT-MODs, we will identify disease and prognostic biomarkers in young CMT1A patients.

NCT Number	NCT07049588
Lead Sponsor	Assistance Publique Hopitaux De Marseille Collaborators: Association Française contre les Myopathies (AFM), Paris, University Medical Center Göttingen
Conditions	Charcot-Marie-Tooth Disease Type 1A
Enrollment	55 participants
Start Date	2025-06-24
Primary Completion	2027-06-24 (estimated)
Study Completion	2028-06-24 (estimated)
Updated on ClinicalTrials.gov	2025-07-03