Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
NCT ID: NCT01193088
Last Updated: 2025-10-07
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
1050 participants
OBSERVATIONAL
2010-05-31
2026-12-31
Brief Summary
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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CMT1A
Families/people with genetically defined CMT1A
No interventions assigned to this group
Genetically undefined CMT
Families/people with genetically undefined CMT with common causes ruled out.
No interventions assigned to this group
Eligibility Criteria
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Inclusion Criteria
Patients must have at least one of the following:
1. Patient has a documented PMP22 duplication. AND/OR
2. Patient has a first or second degree relative (parent, child, sibling, half- sibling, aunt, uncle, grandparent, grandchild, niece, or nephew) with a documented PMP22 duplication AND a clear link between that family member and the affected patient AND a phenotype consistent with CMT1A.
i. A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a PMP22 duplication, and the parent does not have any signs, symptoms, or electrophysiology consistent with CMT1A, there is no clear link.
ii. In cases where clear links are not available, genetic testing is required for the patient or the first degree family member who is not clearly affected.
a. Patient has demonstrated neuropathy on nerve conduction studies or clinically diagnosed genetic neuropathy, in the opinion of the investigator or genetic counsellor.
1. Person is a family member of a CMT patient who is enrolled in the CMT Exome Project.
AND one of the following:
2. Person does not have a peripheral neuropathy, in the opinion of the investigator or genetic counsellor.
OR
3. Person is suspected to have a peripheral neuropathy, but has not been examined at an INC site.
Exclusion Criteria
2. For CMT Exome Project, patient has a genetically confirmed form of CMT (i.e. mutation in MFN2 causing CMT2A, mutation in GARS causing CMT2D, etc.).
3. Patients with known neuropathy from a non-genetic source, such as chemotherapies (i.e. Vincristine, Taxol, Cisplatin), diabetes, alcoholism will be evaluated independently so that genetic contributions to their effects on CMT1A phenotypes can also be analyzed.
ALL
Yes
Sponsors
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National Institute of Neurological Disorders and Stroke (NINDS)
NIH
Muscular Dystrophy Association
OTHER
University of Rochester
OTHER
University of Pennsylvania
OTHER
King's College Hospital NHS Trust
OTHER
Sydney Children's Hospitals Network
OTHER
Children's Hospital of Philadelphia
OTHER
University of Miami
OTHER
Johns Hopkins University
OTHER
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
OTHER
Cedars-Sinai Medical Center
OTHER
Nemours Children's Clinic
OTHER
Stanford University
OTHER
University of Minnesota
OTHER
Massachusetts General Hospital
OTHER
University of Colorado, Denver
OTHER
Children's National Research Institute
OTHER
University of Michigan
OTHER
St. Jude Children's Research Hospital
OTHER
Connecticut Children's Medical Center
OTHER
Seattle Children's Hospital
OTHER
The Hospital for Sick Children
OTHER
University of Iowa
OTHER
Responsible Party
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Michael Shy
Professor
Principal Investigators
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Michael E Shy, MD
Role: PRINCIPAL_INVESTIGATOR
University of Iowa
Locations
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Cedars-Sinai Medical Center
Los Angeles, California, United States
Stanford University
Palo Alto, California, United States
University of Colorado Hospital
Aurora, Colorado, United States
Connecticut Children's Medical Center
Hartford, Connecticut, United States
University of Miami
Miami, Florida, United States
University of Iowa
Iowa City, Iowa, United States
Johns Hopkins University
Baltimore, Maryland, United States
Harvard/Massachusetts General Hospital
Boston, Massachusetts, United States
University of Michigan
Ann Arbor, Michigan, United States
University of Minnesota
Maple Grove, Minnesota, United States
University of Rochester
Rochester, New York, United States
University of North Carolina
Chapel Hill, North Carolina, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
University of Pennsylvania
Philadelphia, Pennsylvania, United States
St. Jude Children's Research Hospital
Memphis, Tennessee, United States
Houston Methodist Hospital
Houston, Texas, United States
Seattle Children's Hospital
Seattle, Washington, United States
Children's Hospital of Westmead
Sydney, New South Wales, Australia
The Hospital for Sick Children
Toronto, Ontario, Canada
C. Besta Neurological Institute
Milan, , Italy
National Hospital of Neurology and Neurosurgery
London, England, United Kingdom
Dubowitz Neuromuscular Centre
London, , United Kingdom
Countries
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Central Contacts
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Facility Contacts
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References
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Montenegro G, Powell E, Huang J, Speziani F, Edwards YJ, Beecham G, Hulme W, Siskind C, Vance J, Shy M, Zuchner S. Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol. 2011 Mar;69(3):464-70. doi: 10.1002/ana.22235. Epub 2011 Jan 20.
Related Links
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Inherited Neuropathies Consortium Website
Other Identifiers
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INC-6602
Identifier Type: -
Identifier Source: org_study_id
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