A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Vera Fridman, Stefan Sillau, Gyula Acsadi...
https://pubmed.ncbi.nlm.nih.gov/32047073Actively Recruiting
All Genders
Healthy Volunteers
ID01193075
Natural History Evaluation of Charcot Marie Tooth Disease Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Led by Michael Shy · Updated on 2025-10-07
5000
Participants Needed
22
Research Sites
N/A
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
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.
CONDITIONS
Brief Title
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Who Can Participate
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Must attend an in-person visit at a participating center for the initial evaluation
- Have a documented pathogenic or likely pathogenic CMT-causing genetic variant
- OR have a close family member with a known pathogenic CMT variant and a consistent clinical diagnosis
- Variants of uncertain significance may be included if classified as likely pathogenic or pathogenic, found in multiple affected family members, or agreed upon by investigators
- Clinical signs suggestive of CMT even if genetic type is unknown
- Patient or legal guardian must understand and sign a consent form; teenagers (13-17) and cognitively able adults must sign assent if required
- Control participants must not have peripheral neuropathy and must sign consent or assent as applicable
You will not qualify if you...
- Have a genetic variant of uncertain significance that cannot be further classified
- Decline participation or do not sign informed consent
- 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
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - 1 day
Participants undergo a full-day evaluation including neurological exams, nerve conduction studies, physical therapy and orthotist assessments, genetic counseling, and possibly genetic testing to diagnose and assess the severity of Charcot Marie Tooth Disease (CMT). Additional optional research tests may be offered depending on eligibility and interest.
1 visit (in-person)
Long-term Monitoring
Duration - Up to several years depending on participant choice
Participants may choose to return annually for follow-up clinic visits to monitor disease progression and participate in ongoing research assessments. Participation in research at follow-up visits is optional and initiated by the participant.
Annual visits initiated by participant
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
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Research Team
N
Nicole M Kressin, MSN, RN
T
Tiffany Grider, MS, CGC
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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Published Research Related To This Trial
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Francis B Panosyan, Matilde Laura, Alexander M Rossor...
https://pubmed.ncbi.nlm.nih.gov/28768847CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.
V Fridman, B Bundy, M M Reilly...
https://pubmed.ncbi.nlm.nih.gov/25430934