Ireland
--:--IST
Recruiting Observational

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

NCT01193088 · tracked via the Priya Life Science Italy tracker
Sponsor
University of Iowa
Phase
Observational
Started
2010-05
Last updated
2025-10-07

Condition(s) studied

Charcot-Marie-Tooth Disease, Type Ia (Disorder)HMSN

Study 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.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
Inclusion Criteria: All patients must agree to take part in the study and sign a consent form. A teenager (age 13-17 years) considering enrolling must agree to take part in the study and sign an assent form (depending on local ethics committee requirements). Additional inclusion criteria are described below. Inclusion Criteria: CMT1A Gene Modifier Study Patients must have at least one of the following: 1. Patient has a documented PMP22 duplication. AND/OR 2. 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. Inclusion Criteria - Patients for CMT Exome Project a. Patient has demonstrated neuropathy on nerve conduction studies or clinically diagnosed genetic neuropathy, in the opinion of the investigator or genetic counsellor. Inclusion Criteria - Controls for CMT Exome Project 1. Person is a family member of a CMT patient who is enrolled in the CMT Exome Project. AND one of the following: 2. Person does not have a peripheral neuropathy, in the opinion of the investigator or genetic counsellor. OR 3. Person is suspected to have a peripheral neuropathy, but has not been examined at an INC site. Exclusion Criteria 1. Patient does not wish to participate or does not sign a consent form. 2. 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.). 3. 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.

Primary outcome measure(s)

  • Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers — once
    While the same genetic change - an extra copy of PMP22 - causes CMT1A by definition, it is unclear why some people have more severe symptoms and some have less severe. We are looking for genetic modifiers - changes in the DNA that may be causing the differences in symptoms.
  • New genetic causes of CMT — Once
    At least 33% of people with CMT have an unknown or genetically un-found form of the condition. We are looking for additional genes that cause CMT when mutated.

Trial sites (22)

FacilityCityRegionStatus
Cedars-Sinai Medical Center Los Angeles California Recruiting
Stanford University Palo Alto California Recruiting
University of Colorado Hospital Aurora Colorado Recruiting
Connecticut Children's Medical Center Hartford Connecticut Recruiting
University of Miami Miami Florida Recruiting
University of Iowa Iowa City Iowa Recruiting
Johns Hopkins University Baltimore Maryland Recruiting
Harvard/Massachusetts General Hospital Boston Massachusetts Recruiting
University of Michigan Ann Arbor Michigan Recruiting
University of Minnesota Maple Grove Minnesota Recruiting
University of Rochester Rochester New York Recruiting
University of North Carolina Chapel Hill North Carolina Recruiting
Children's Hospital of Philadelphia Philadelphia Pennsylvania Recruiting
University of Pennsylvania Philadelphia Pennsylvania Recruiting
St. Jude Children's Research Hospital Memphis Tennessee Recruiting
Houston Methodist Hospital Houston Texas Recruiting
Seattle Children's Hospital Seattle Washington Recruiting
Children's Hospital of Westmead Sydney New South Wales Recruiting
The Hospital for Sick Children Toronto Ontario Recruiting
C. Besta Neurological Institute Milan Italy Recruiting
National Hospital of Neurology and Neurosurgery London England Recruiting
Dubowitz Neuromuscular Centre London United Kingdom Recruiting

More University of Iowa trials in Italy

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT01193088 on ClinicalTrials.gov ↗ ← All trials in Italy