Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
NCT01193075
This study is recruiting at 16 US sites in 12 states, according to its ClinicalTrials.gov record last updated .
Summary
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
Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov
Conditions studied
- Charcot Marie Tooth Disease
Eligibility basics and study details
- Study type
- Observational
- Phase
- Not applicable
- Ages
- Any age
- Sex
- All
- Healthy volunteers
- Accepted
- Sponsor
- Michael Shy
- Last updated on ClinicalTrials.gov
- October 7, 2025
These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.
US recruiting sites
California · 2
- Cedars-Sinai Medical Center · Los Angeles, CA
- Stanford University · Palo Alto, CA
Colorado · 1
- University of Colorado Hospital · Aurora, CO
Connecticut · 1
- University of Connecticut/Connecticut Children's Medical Center · Hartford, CT
District of Columbia · 1
- Children's National Hospital · Washington D.C., DC
Florida · 3
- University of Miami · Miami, FL
- Nemours Children's Health · Orlando, FL
- Nemours Children's Hospital · Orlando, FL
Iowa · 1
- University of Iowa · Iowa City, IA
Maryland · 1
- Johns Hopkins University · Baltimore, MD
Massachusetts · 1
- Harvard/Massachusetts General Hospital · Boston, MA
Minnesota · 1
- University of Minnesota · Minneapolis, MN
New York · 1
- University of Rochester · Rochester, NY
Pennsylvania · 2
- Children's Hospital of Philadelphia · Philadelphia, PA
- University of Pennsylvania · Philadelphia, PA
Tennessee · 1
- St. Jude Children's Research Hospital · Memphis, TN
Source: ClinicalTrials.gov, data processed . Recruiting US sites filtered by distance and site status; summaries shortened.