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

Descriptive Information
Brief Title † Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Official Title † Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
Brief Summary 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 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.
Study Phase N/A
Study Type † Observational
Study Design † Observational Model: Cohort, Time Perspective: Prospective
Primary Outcome Measure † Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers
Secondary Outcome Measure †
Condition † Charcot-Marie-Tooth Disease, Type Ia (Disorder) HMSN
Intervention †
Study Arms / Comparison Groups CMT1A Genetically undefined CMT Families/people with genetically undefined CMT with common causes ruled out.
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 1050
Start Date † April 2010
Completion Date
Primary Completion Date December 2016
Eligibility Criteria † Inclusion Criteria: Patient MUST be seen in person at one of the clinical sites involved in this study. Charcot Marie Tooth disease type 1A (CMT1A) modifier gene study - Patient has a documented PMP22 duplication OR - Patient has a first or second degree relative (parent, child, sibling, half-sibling, aunt, uncle, grandparent, grandchild, niece, or nephew) with a documented PMP22 duplication AND a clear link between that family member and the affected patient AND a phenotype consistent with CMT1A. i. A clear link is necessary for a second-degree relative. For example, if a grandparent is affected and has a PMP22 duplication, and the parent does not have any signs, symptoms, or electrophysiology consistent with CMT1A, there is no clear link. ii. In cases where clear links are not available, genetic testing is required for the patient or the first degree family member who is not clearly affected. AND - Patient has agreed to take part in the study and has signed a consent form. - A teenager (ages 13-17) considering enrolling must agree to take part in the study and sign an assent form Inclusion Criteria - CMT Exome Project 1. Patient has demonstrated neuropathy on nerve conduction studies or a clinically diagnosed genetic neuropathy. 2. Patient or first or second degree family member with a clear link as described in the CMT1A Inclusion Criteria part b has had negative MFN2 genetic testing, if has an axonal form of CMT (nerve conductions greater than 38 m/s) or negative testing for PMP22 duplication, deletion, sequencing, MPZ, and GJB1 if a demyelinating form of CMT is present (
Gender Both
Ages N/A - N/A
Accepts Healthy Volunteers Accepts Healthy Volunteers
Contacts †† Shawna Feely, MS, CGC, 319-384-6362,
Location Countries † United States
Administrative Information
NCT ID † NCT01193088
Organization ID INC-6602
Secondary IDs †† 1U54NS065712-01
Responsible Party Principal Investigator
Study Sponsor † University of Iowa
Collaborators †† National Institute of Neurological Disorders and Stroke (NINDS)
Investigators † Principal Investigator: Michael E Shy, MD, Wayne State University
Information Provided By
Verification Date May 2015
First Received Date † August 9, 2010
Last Updated Date May 14, 2015
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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