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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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.
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
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Study contacts
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Locations
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C. Besta Neurological Institute
RECRUITINGMilan, Italy
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Cedars-Sinai Medical Center
RECRUITINGLos Angeles, California, 90048, United States
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Children's Hospital of Philadelphia
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
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Children's Hospital of Westmead
RECRUITINGSydney, New South Wales, 2145, Australia
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Connecticut Children's Medical Center
RECRUITINGHartford, Connecticut, 06106, United States
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Dubowitz Neuromuscular Centre
RECRUITINGLondon, United Kingdom
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Harvard/Massachusetts General Hospital
RECRUITINGBoston, Massachusetts, 02114, United States
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Houston Methodist Hospital
RECRUITINGHouston, Texas, 77030, United States
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Johns Hopkins University
RECRUITINGBaltimore, Maryland, 21205, United States
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National Hospital of Neurology and Neurosurgery
RECRUITINGLondon, England, WC1N 3BG, United Kingdom
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Seattle Children's Hospital
RECRUITINGSeattle, Washington, 98105, United States
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St. Jude Children's Research Hospital
RECRUITINGMemphis, Tennessee, 38105, United States
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Stanford University
RECRUITINGPalo Alto, California, 94304, United States
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The Hospital for Sick Children
RECRUITINGToronto, Ontario, M5G 1X8, Canada
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University of Colorado Hospital
RECRUITINGAurora, Colorado, 80045, United States
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University of Iowa
RECRUITINGIowa City, Iowa, 52242, United States
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University of Miami
RECRUITINGMiami, Florida, 33136, United States
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University of Michigan
RECRUITINGAnn Arbor, Michigan, 48109, United States
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University of Minnesota
RECRUITINGMaple Grove, Minnesota, 55369, United States
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University of North Carolina
RECRUITINGChapel Hill, North Carolina, 27599, United States
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University of Pennsylvania
RECRUITINGPhiladelphia, Pennsylvania, 19104, United States
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University of Rochester
RECRUITINGRochester, New York, 14642, United States
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Conditions
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