Actively Recruiting
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Led by Michael Shy · Updated on 2025-10-07
5000
Participants Needed
22
Research Sites
869 weeks
Total Duration
On this page
Sponsors
M
Michael Shy
Lead Sponsor
F
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
CONDITIONS
Official Title
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients must attend an in-person visit at a participating center for the initial evaluation.
- Patient has a documented pathogenic or likely pathogenic CMT-causing genetic variant.
- Alternatively, patient has a first- or second-degree family member with a documented pathogenic or likely pathogenic CMT variant and a clear link plus a matching clinical picture.
- Patients with variants of uncertain significance may be included if classified as pathogenic per guidelines, found in affected family members but not in unaffected ones, or agreed upon by investigators as likely pathogenic.
- Patients with clinical signs suggestive of CMT but unknown type or variant will be categorized by nerve conduction and inheritance patterns.
- Patients or their legal representatives must understand and sign an IRB-approved consent form; teens 13-17 and cognitively able adults must sign an assent form as required.
- Control participants must not have peripheral neuropathy and must sign consent; teens 13-17 must sign assent as required.
You will not qualify if you...
- Patients with variants of uncertain significance that cannot be classified according to inclusion criteria methods.
- Patients who do not wish to participate or have not signed informed consent.
- Patients deemed inappropriate for the study by the site principal investigator.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 22 locations
1
Cedars-Sinai Medical Center
Los Angeles, California, United States, 90048
Actively Recruiting
2
Stanford University
Palo Alto, California, United States, 94305
Actively Recruiting
3
University of Colorado Hospital
Aurora, Colorado, United States, 80045
Actively Recruiting
4
University of Connecticut/Connecticut Children's Medical Center
Hartford, Connecticut, United States, 06106
Actively Recruiting
5
Children's National Hospital
Washington D.C., District of Columbia, United States, 20010
Actively Recruiting
6
University of Miami
Miami, Florida, United States, 33136
Actively Recruiting
7
Nemours Children's Health
Orlando, Florida, United States, 32827
Actively Recruiting
8
Nemours Children's Hospital
Orlando, Florida, United States, 32827
Actively Recruiting
9
University of Iowa
Iowa City, Iowa, United States, 52242
Actively Recruiting
10
Johns Hopkins University
Baltimore, Maryland, United States, 21205
Actively Recruiting
11
Harvard/Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Actively Recruiting
12
University of Michigan
Ann Arbor, Michigan, United States, 48109
Not Yet Recruiting
13
University of Minnesota
Minneapolis, Minnesota, United States, 55455
Actively Recruiting
14
University of Rochester
Rochester, New York, United States, 14642
Actively Recruiting
15
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
16
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
17
St. Jude Children's Research Hospital
Memphis, Tennessee, United States, 38105-3678
Actively Recruiting
18
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Not Yet Recruiting
19
University of Westmead
Sydney, New South Wales, Australia, 2145
Actively Recruiting
20
The Hospital for Sick Children
Toronto, Ontario, Canada, M5G 1E8
Actively Recruiting
21
C. Besta Neurological Institute
Milan, Milan, Italy
Actively Recruiting
22
National Hospital of Neurology and Neurosurgery
London, England, United Kingdom, WC1N 3BG
Actively Recruiting
Research Team
N
Nicole M Kressin, MSN, RN
CONTACT
T
Tiffany Grider, MS, CGC
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
5
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