Status: Recruiting
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a five year window
Participants needed: 5,000
Trial details
Biological sex: AllType: ObservationalSponsor: Michael ShyUpdated: Oct 7, 2025Locations: 22
Eligibility criteria
Patient has documented, pathogenic or likely pathogenic CMT-causing variant(s) [+6]
Patient has a variant of uncertain significance that cannot be further classifie... [+2]