Actively Recruiting
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Led by University of Iowa · Updated on 2025-10-07
1050
Participants Needed
22
Research Sites
865 weeks
Total Duration
On this page
Sponsors
U
University of Iowa
Lead Sponsor
N
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborating Sponsor
AI-Summary
What this Trial Is About
This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.
CONDITIONS
Official Title
Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants must agree to take part in the study and sign a consent form.
- Teenagers aged 13-17 must sign an assent form if required by local ethics committees.
- For the CMT1A Gene Modifier Study, participants must have a documented PMP22 duplication or a first or second degree relative with a documented PMP22 duplication linked to the participant and consistent with CMT1A symptoms.
- For the CMT Exome Project, participants must have neuropathy shown by nerve conduction studies or a clinical genetic neuropathy diagnosis.
- Controls for the CMT Exome Project must be family members of enrolled CMT patients and either have no peripheral neuropathy or suspected neuropathy but not examined at an INC site.
You will not qualify if you...
- Patients who do not wish to participate or do not sign a consent form.
- Patients with genetically confirmed CMT forms other than CMT1A (e.g., mutations causing CMT2A or CMT2D).
- Patients with neuropathy from non-genetic causes such as chemotherapy, diabetes, or alcoholism will be evaluated separately.
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, 94304
Actively Recruiting
3
University of Colorado Hospital
Aurora, Colorado, United States, 80045
Actively Recruiting
4
Connecticut Children's Medical Center
Hartford, Connecticut, United States, 06106
Actively Recruiting
5
University of Miami
Miami, Florida, United States, 33136
Actively Recruiting
6
University of Iowa
Iowa City, Iowa, United States, 52242
Actively Recruiting
7
Johns Hopkins University
Baltimore, Maryland, United States, 21205
Actively Recruiting
8
Harvard/Massachusetts General Hospital
Boston, Massachusetts, United States, 02114
Actively Recruiting
9
University of Michigan
Ann Arbor, Michigan, United States, 48109
Actively Recruiting
10
University of Minnesota
Maple Grove, Minnesota, United States, 55369
Actively Recruiting
11
University of Rochester
Rochester, New York, United States, 14642
Actively Recruiting
12
University of North Carolina
Chapel Hill, North Carolina, United States, 27599
Actively Recruiting
13
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
14
University of Pennsylvania
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
15
St. Jude Children's Research Hospital
Memphis, Tennessee, United States, 38105
Actively Recruiting
16
Houston Methodist Hospital
Houston, Texas, United States, 77030
Actively Recruiting
17
Seattle Children's Hospital
Seattle, Washington, United States, 98105
Actively Recruiting
18
Children's Hospital of Westmead
Sydney, New South Wales, Australia, 2145
Actively Recruiting
19
The Hospital for Sick Children
Toronto, Ontario, Canada, M5G 1X8
Actively Recruiting
20
C. Besta Neurological Institute
Milan, Italy
Actively Recruiting
21
National Hospital of Neurology and Neurosurgery
London, England, United Kingdom, WC1N 3BG
Actively Recruiting
22
Dubowitz Neuromuscular Centre
London, United Kingdom
Actively Recruiting
Research Team
T
Tiffany Grider, MS, CGC
CONTACT
N
Nicole Kressin, 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
2
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