Observational Study of Charcot Marie Tooth Disease Types 1B, 2A, 4A, 4C, and Other Forms Tracking Disease Progression and Genetic Links Over Time

What this Trial Is About

Researchers are studying the natural history and genetic links of Charcot Marie Tooth disease CMT types 1B, 2A, 4A, and 4C, along with other forms of CMT. This observational study aims to understand how these inherited neuropathies progress and to develop and test new outcome measures like the CMT Pediatric Scale and Minimal Dataset over five years. The study is led by a consortium of specialized centers funded by the NIH and muscular dystrophy organizations. Participants undergo a full-day evaluation involving neurological exams, nerve conduction studies, physical therapy and orthotist assessments, genetic counseling, and possibly genetic testing to identify their type of CMT. Optional research tests include EMGs, muscle evaluations, hand function tests, quality of life questionnaires, and skin biopsies for certain adults. There are additional optional sub-studies focused on quality of life reliability, genetic modifiers, and pediatric functional assessments. During the clinic visit, participants may consent to research and undergo testing to measure disease severity using the Charcot Marie Tooth Neuropathy Score CMTNS. Follow-up visits are optional and initiated by patients. Data from clinical care and research assessments will help develop tools for future clinical trials and improve understanding of CMT. The study may last over multiple years, with annual visits encouraged but not required for continued participation.

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