Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorUniversity of Iowa
About this trial
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.
Eligibility criteria
Qualifiers
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.
Disqualifiers
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.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
1,050 Participants
are grouped into 2 trial groupsSponsors and collaborators
University of Iowa
Lead sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
Muscular Dystrophy Association
Collaborator
University of Rochester
Collaborator
University of Pennsylvania
Collaborator
King's College Hospital NHS Trust
Collaborator
Sydney Children's Hospitals Network
Collaborator
Children's Hospital of Philadelphia
Collaborator
University of Miami
Collaborator
Johns Hopkins University
Collaborator
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Collaborator
Cedars-Sinai Medical Center
Collaborator
Nemours Children's Clinic
Collaborator
Stanford University
Collaborator
University of Minnesota
Collaborator
Massachusetts General Hospital
Collaborator
University of Colorado, Denver
Collaborator
Children's National Research Institute
Collaborator
University of Michigan
Collaborator
St. Jude Children's Research Hospital
Collaborator
Connecticut Children's Medical Center
Collaborator
Seattle Children's Hospital
Collaborator
The Hospital for Sick Children
Collaborator
Source ClinicalTrials.gov