Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Key facts
- Where
- Ann Arbor, Aurora, Baltimore, Boston, Chapel Hill, Columbus, Hartford, Houston, Iowa City, Los Angeles, Maple Grove, Memphis, Miami, Palo Alto, Philadelphia, Rochester, and Seattle, United StatesSee the 18 sites
Where in United States
- University of MichiganAnn Arbor, United StatesContact: Angela StovallTaking people
- University of Colorado HospitalAurora, United StatesContact: Study RecruiterTaking people
- Johns Hopkins UniversityBaltimore, United StatesContact: Simone ThomasTaking people
- Harvard (Massachusetts General Hospital)Boston, United StatesContact: Lauren PoliticaTaking people
- University of North CarolinaChapel Hill, United StatesContact: Caroline SummerourTaking people
- Nationwide Children's HospitalColumbus, United StatesContact: Stephanie DavisTaking people
- Connecticut Children's Medical CenterHartford, United StatesContact: Jennifer Twatchtman-BassettTaking people
- Houston Methodist HospitalHouston, United StatesContact: Samia SaadTaking people
- University of IowaIowa City, United StatesContact: Tiffany Grider, MS, CGCTaking people
- Cedars-Sinai Medical CenterLos Angeles, United StatesContact: Marcela Arenas SanchezTaking people
- University of MinnesotaMaple Grove, United StatesContact: Mia FreibergTaking people
- St. Jude Children's Research HospitalMemphis, United StatesContact: Colin QuillivanTaking people
- University of MiamiMiami, United StatesContact: Liuba AlonsoTaking people
- Stanford UniversityPalo Alto, United StatesContact: Michelle JepsenTaking people
- Children's Hospital of PhiladelphiaPhiladelphia, United StatesContact: Sabrina Yum, MDTaking people
- University of PennsylvaniaPhiladelphia, United StatesContact: Daya StevensTaking people
- University of RochesterRochester, United StatesContact: Janet SowdenTaking people
- Seattle Children's HospitalSeattle, United StatesContact: Shawna FeelyTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorTrial details
- Who runs it
- University of Iowa
- Trial code
- NCT01193088
- Record updated
- 27 October 2026
- Original description
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.Read full original descriptionShow less
Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT
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.
Inclusion: Patients:; o Must have demonstrated neuropathy on nerve conduction studies or a clinically diagnosed hereditary neuropathy, in the opinion of the site investigator; Controls:; Must be a family member of a CMT patient who is enrolled in the 6602; AND one of the following:; Does not have a peripheral neuropathy, in the opinion of the site investigator; OR is suspected to have a peripheral neuropathy, but has not been examined at an INC site; CMT1A Modifier Study; Patient has a documented PMP22 duplication; AND/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; 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; 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.
Exclusion: All Patients: Must not have known neuropathy from a non-genetic source, such as chemotherapies (i.e., Vincristine, Taxol, Cisplatin), diabetes, alcoholism; CMT Exome Project Patients ONLY: Must not have a genetically confirmed form of CMT; All Participants: Does not wish to participate or does not sign a consent form.