Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others

Recruiting now

Conditions studied: Charcot Marie Tooth Disease

In brief

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

Key facts

Study ID

NCT01193075

Run by

Michael Shy

People needed

5000

Starts

2010-04-01

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 be seen in-person at a participating center for the initial visit.
• Inclusion Criteria - patients with CMT (all subtypes)
• Patient has documented, pathogenic or likely pathogenic CMT-causing variant(s)
• OR
• Patient has a first- or second-degree family member (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented pathogenic or likely pathogenic CMT-causing variant AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis
• i. A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a pathogenic or likely pathogenic variant, and the parent does not have any signs, symptoms, or electrophysiology consistent with the diagnosis, there is no clear link unless the parent has also been found to have the pathogenic or likely pathogenic variant such as in cases with reduced penetrance
• ii. In cases where clear links are not available, genetic testing is required for the patient or the family member who is not clearly affected.
• Patients who have a variant of uncertain significance, as determined by the laboratory performing the testing may still be included if one of the following circumstances applies:
• i. Variant is categorized as pathogenic or likely pathogenic per the ACMG variant interpretation guidelines. [80, 81]
• ii. Variant has been found in multiple affected people in a family and has not been found in unaffected family members. (Note - both affected and unaffected family members must be tested in this situation to be included).
• iii. The principal investigator and the site investigator agree that the variant(s) is (are) most likely pathogenic.
• Patients whose clinical presentation is suggestive of CMT, but CMT type and variant are unknown will be characterized by the following categories:
• Nerve conduction velocities: demyelinating, axonal, intermediate
• Inheritance: dominant, recessive, X-linked, or unknown
• Patient or patient's legally authorized representative has understood and signed an IRB approved consent form for the study. Teenagers (age 13 - 17 years) and cognitively impaired adults who are able to read and write must sign an assent form (depending on local ethics committee requirements).
• Inclusion Criteria - Controls
• Person does not have a peripheral neuropathy, as determined by the investigator.
• Person has understood and signed an IRB approved consent form for the study. Teenagers (age 13-17 years) must sign an assent form (depending on local ethics committee requirements).

You may not qualify if…

• Patient has a variant of uncertain significance that cannot be further classified following methods listed in the Inclusion Criteria.
• Patient does not wish to be a part of the study or has not signed an informed consent form.
• Patient is deemed inappropriate by the Site PI.

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)
• University of Connecticut/Connecticut Children's Medical Center — Hartford, Connecticut, United States (enrolling)
• Children's National Hospital — Washington D.C., District of Columbia, United States (enrolling)
• University of Miami — Miami, Florida, United States (enrolling)
• Nemours Children's Health — Orlando, Florida, United States (enrolling)
• Nemours Children's Hospital — Orlando, 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)
• C. Besta Neurological Institute — Milan, Milan, Italy (enrolling)
• National Hospital of Neurology and Neurosurgery — London, England, United Kingdom (enrolling)
• University of Minnesota — Minneapolis, Minnesota, United States (enrolling)
• University of Rochester — Rochester, New York, 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)
• University of Westmead — Sydney, New South Wales, Australia (enrolling)
• The Hospital for Sick Children — Toronto, Ontario, Canada (enrolling)
• University of Michigan — Ann Arbor, Michigan, United States
• Seattle Children's Hospital — Seattle, Washington, United States

Full record on ClinicalTrials.gov

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