Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others

Trial ID or NCT#

NCT01193075

Status

not recruiting iconNOT RECRUITING

Purpose

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

Official Title

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others

Eligibility Criteria

Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: Yes

Investigator(s)

John W. Day, MD, PhD
John W. Day, MD, PhD
Neuromuscular neurologist, Neurophysiologist
Professor of Neurology (Adult Neurology), of Pediatrics (Genetics) and, by courtesy, of Pathology

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Contact

Carly E Siskind, MS
650-721-5588