RecruitingNCT01193075

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

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others

Sponsor

Michael Shy

Enrollment

5,000 participants

Start Date

Apr 1, 2010

Study Type

OBSERVATIONAL

Conditions

Charcot-Marie-Tooth disease

Summary

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

Eligibility

Plain Language Summary

Simplified for easier understanding

This long-term natural history study tracks people living with Charcot-Marie-Tooth disease (CMT) — a group of inherited nerve disorders that cause weakness and numbness, usually in the feet, legs, and hands. Researchers want to understand how different subtypes of CMT progress over time, which will help develop future treatments. In-person visits at a participating center are required for the first visit. You may be eligible if... - You have a confirmed genetic mutation known to cause CMT - You have a first- or second-degree family member with a confirmed CMT mutation and your symptoms are consistent with CMT - You have clinical signs suggesting CMT even if the exact genetic type is unknown - You are willing to consent and attend an initial in-person visit - Healthy controls without nerve disease may also be eligible You may NOT be eligible if... - Your genetic variant is uncertain and cannot be classified - You are unwilling to participate or provide informed consent - The site's principal investigator considers you an inappropriate candidate Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(22)

Cedars-Sinai Medical Center

Los Angeles, California, United States

Stanford University

Palo Alto, California, United States

University of Colorado Hospital

Aurora, Colorado, United States

University of Connecticut/Connecticut Children's Medical Center

Hartford, Connecticut, United States

Children's National Hospital

Washington D.C., District of Columbia, United States

University of Miami

Miami, Florida, United States

Nemours Children's Health

Orlando, Florida, United States

Nemours Children's Hospital

Orlando, 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

Minneapolis, Minnesota, United States

University of Rochester

Rochester, New York, 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

Seattle Children's Hospital

Seattle, Washington, United States

University of Westmead

Sydney, New South Wales, Australia

The Hospital for Sick Children

Toronto, Ontario, Canada

C. Besta Neurological Institute

Milan, Milan, Italy

National Hospital of Neurology and Neurosurgery

London, England, United Kingdom

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

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NCT01193075

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