Last updated on February 2019

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


Brief description of study

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.

Detailed Study Description

This project is to understand modifier genes and how they influence the severity of disease expression, along with identifying new forms of CMT which have not been genetically determined. Subjects who are eligible will either have CMT type 1A (CMT1A) or an unknown form of CMT. Blood will be drawn and sent to the University of Miami where they receive the coded sample and process it through exome sequencing. Subjects will be told that this is optional.

Clinical Study Identifier: NCT01193088

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University of Michigan

Ann Arbor, MI United States
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Stanford University

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Johns Hopkins University

Baltimore, MD United States
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University of Minnesota

Maple Grove, MN United States
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University of Miami

Miami, FL United States
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Nemours Children's Clinic

Orlando, FL United States
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Cedars-Sinai Medical Center

Los Angeles, CA United States
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Vanderbilt University

Nashville, TN United States
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University of Rochester

Rochester, NY United States
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University of Iowa

Iowa City, IA United States
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