Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2

Recruiting now

Conditions studied: Charcot-Marie-Tooth Disease, Type Ia (Disorder), HMSN

In brief

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.

Key facts

Study ID

NCT01193088

Run by

University of Iowa

People needed

1050

Starts

2010-05-01

Expected to finish

2026-12-01

Last updated by the study team

2025-10-07

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• All patients must agree to take part in the study and sign a consent form. A teenager (age 13-17 years) considering enrolling must agree to take part in the study and sign an assent form (depending on local ethics committee requirements).
• Additional inclusion criteria are described below.
• Inclusion Criteria: CMT1A Gene Modifier Study
• Patients must have at least one of the following:
• Patient has a documented PMP22 duplication. AND/OR
• 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.
• Inclusion Criteria - Patients for CMT Exome Project
• a. Patient has demonstrated neuropathy on nerve conduction studies or clinically diagnosed genetic neuropathy, in the opinion of the investigator or genetic counsellor.
• Inclusion Criteria - Controls for CMT Exome Project
• Person is a family member of a CMT patient who is enrolled in the CMT Exome Project.
• AND one of the following:
• Person does not have a peripheral neuropathy, in the opinion of the investigator or genetic counsellor.
• OR
• Person is suspected to have a peripheral neuropathy, but has not been examined at an INC site.

You may not qualify if…

• Patient does not wish to participate or does not sign a consent form.
• 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.).
• 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.

Where it is running

• Cedars-Sinai Medical Center — Los Angeles, California, United States (enrolling)
• Stanford University — Palo Alto, California, United States (enrolling)
• University of Colorado Hospital — Aurora, Colorado, United States (enrolling)
• Connecticut Children's Medical Center — Hartford, Connecticut, United States (enrolling)
• University of Miami — Miami, Florida, United States (enrolling)
• University of Iowa — Iowa City, Iowa, United States (enrolling)
• Johns Hopkins University — Baltimore, Maryland, United States (enrolling)
• Harvard/Massachusetts General Hospital — Boston, Massachusetts, United States (enrolling)
• University of Michigan — Ann Arbor, Michigan, United States (enrolling)
• University of Minnesota — Maple Grove, Minnesota, United States (enrolling)
• University of Rochester — Rochester, New York, United States (enrolling)
• University of North Carolina — Chapel Hill, North Carolina, United States (enrolling)
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (enrolling)
• University of Pennsylvania — Philadelphia, Pennsylvania, United States (enrolling)
• St. Jude Children's Research Hospital — Memphis, Tennessee, United States (enrolling)
• Houston Methodist Hospital — Houston, Texas, United States (enrolling)
• Seattle Children's Hospital — Seattle, Washington, United States (enrolling)
• Children's Hospital of Westmead — Sydney, New South Wales, Australia (enrolling)
• The Hospital for Sick Children — Toronto, Ontario, Canada (enrolling)
• C. Besta Neurological Institute — Milan, Italy (enrolling)
• National Hospital of Neurology and Neurosurgery — London, England, United Kingdom (enrolling)
• Dubowitz Neuromuscular Centre — London, United Kingdom (enrolling)

Full record on ClinicalTrials.gov

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