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Scientists hunt for hidden genes that shape CMT symptoms

NCT ID NCT01193088

First seen Nov 01, 2025 · Last updated May 25, 2026 · Updated 35 times

Summary

This study aims to find new genes that cause Charcot-Marie-Tooth disease (CMT) and identify genetic modifiers that explain why symptoms vary among people with the same genetic change. Researchers will enroll up to 1,050 participants, including those with a known PMP22 duplication and those with unexplained CMT. The goal is to better understand the disease's genetic basis, which could lead to improved diagnosis and future treatments.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • C. Besta Neurological Institute

    RECRUITING

    Milan, Italy

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

  • Cedars-Sinai Medical Center

    RECRUITING

    Los Angeles, California, 90048, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

    Contact

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

    Contact

  • Children's Hospital of Westmead

    RECRUITING

    Sydney, New South Wales, 2145, Australia

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

  • Connecticut Children's Medical Center

    RECRUITING

    Hartford, Connecticut, 06106, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Dubowitz Neuromuscular Centre

    RECRUITING

    London, United Kingdom

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Harvard/Massachusetts General Hospital

    RECRUITING

    Boston, Massachusetts, 02114, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

  • Houston Methodist Hospital

    RECRUITING

    Houston, Texas, 77030, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Johns Hopkins University

    RECRUITING

    Baltimore, Maryland, 21205, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • National Hospital of Neurology and Neurosurgery

    RECRUITING

    London, England, WC1N 3BG, United Kingdom

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Seattle Children's Hospital

    RECRUITING

    Seattle, Washington, 98105, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • St. Jude Children's Research Hospital

    RECRUITING

    Memphis, Tennessee, 38105, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

    Contact

  • Stanford University

    RECRUITING

    Palo Alto, California, 94304, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • The Hospital for Sick Children

    RECRUITING

    Toronto, Ontario, M5G 1X8, Canada

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Colorado Hospital

    RECRUITING

    Aurora, Colorado, 80045, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

  • University of Iowa

    RECRUITING

    Iowa City, Iowa, 52242, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Miami

    RECRUITING

    Miami, Florida, 33136, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

  • University of Michigan

    RECRUITING

    Ann Arbor, Michigan, 48109, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact

  • University of Minnesota

    RECRUITING

    Maple Grove, Minnesota, 55369, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of North Carolina

    RECRUITING

    Chapel Hill, North Carolina, 27599, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • University of Pennsylvania

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

    Contact Email: •••••@•••••

    Contact

  • University of Rochester

    RECRUITING

    Rochester, New York, 14642, United States

    Contact

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.