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

RecruitingObservational studyHealthy volunteers welcome

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

Who can join

All ages · All sexes · Healthy volunteers welcome

Full eligibility criteria
Inclusion Criteria:

* 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

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.

* 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 Criteria

* 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.

About the 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.

Sponsor: University of Iowa · Participants: 1,050 · Started: 2010-05

Contact the study team

Official record on ClinicalTrials.gov — NCT01193088

Locations in the U.S.

CaliforniaCedars-Sinai Medical Center, Los Angeles
Stanford University, Palo Alto
ColoradoUniversity of Colorado Hospital, Aurora
ConnecticutConnecticut Children's Medical Center, Hartford
FloridaUniversity of Miami, Miami
IowaUniversity of Iowa, Iowa City
MarylandJohns Hopkins University, Baltimore
MassachusettsHarvard/Massachusetts General Hospital, Boston
MichiganUniversity of Michigan, Ann Arbor
MinnesotaUniversity of Minnesota, Maple Grove
New YorkUniversity of Rochester, Rochester
North CarolinaUniversity of North Carolina, Chapel Hill
OhioNationwide Children's Hospital, Columbus
PennsylvaniaChildren's Hospital of Philadelphia, Philadelphia
University of Pennsylvania, Philadelphia
TennesseeSt. Jude Children's Research Hospital, Memphis
TexasHouston Methodist Hospital, Houston
WashingtonSeattle Children's Hospital, Seattle

Conditions

From ClinicalTrials.gov, data retrieved Nov 15, 2026. Each study sets its own eligibility; the study team decides who can join.