RecruitingNot Applicable

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

United States1,050 participantsStarted 2010-05

Plain-language 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.

Who can participate

SexALL

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Inclusion criteria

✓. 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.
✓. Person is a family member of a CMT patient who is enrolled in the CMT Exome Project.
✓. Person does not have a peripheral neuropathy, in the opinion of the investigator or genetic counsellor.
✓. Person is suspected to have a peripheral neuropathy, but has not been examined at an INC site.

Exclusion criteria

✕. Patient does not wish to participate or does not sign a consent form.
✕. For CMT Exome Project, patient has a genetically confirmed form of CMT (i.e. mutation in MFN2 causing CMT2A, mutation in GARS causing CMT2D, etc.).
✕. Patients with known neuropathy from a non-genetic source, such as chemotherapies (i.e. Vincristine, Taxol, Cisplatin), diabetes, alcoholism will be evaluated independently so that genetic contributions to their effects on CMT1A phenotypes can also be analyzed.

What they're measuring

Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers

Timeframe: once

New genetic causes of CMT

Timeframe: Once

Trial details

NCT IDNCT01193088

SponsorUniversity of Iowa

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-12

Contact for this trial

Tiffany Grider, MS, CGC

319-384-6362 UICMTClinic@uiowa.edu

View on ClinicalTrials.gov More Charcot-Marie-Tooth Disease, Type Ia (Disorder) trials