Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others

Description

This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a five year window

Conditions

Charcot Marie Tooth Disease

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Study Overview

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Study Details

Study overview

This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C). The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a five year window

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others

Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others

Condition
Charcot Marie Tooth Disease
Intervention / Treatment

-

Contacts and Locations

Los Angeles

Cedars-Sinai Medical Center, Los Angeles, California, United States, 90048

Palo Alto

Stanford University, Palo Alto, California, United States, 94305

Aurora

University of Colorado Hospital, Aurora, Colorado, United States, 80045

Hartford

University of Connecticut/Connecticut Children's Medical Center, Hartford, Connecticut, United States, 06106

Washington

Children's National Hospital, Washington, District of Columbia, United States, 20010

Miami

University of Miami, Miami, Florida, United States, 33136

Orlando

Nemours Children's Health, Orlando, Florida, United States, 32827

Orlando

Nemours Children's Hospital, Orlando, Florida, United States, 32827

Iowa City

University of Iowa, Iowa City, Iowa, United States, 52242

Baltimore

Johns Hopkins University, Baltimore, Maryland, United States, 21205

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Patient has documented, pathogenic or likely pathogenic CMT-causing variant(s)
  • 2. Patient has a first- or second-degree family member (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented pathogenic or likely pathogenic CMT-causing variant AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis
  • 3. Patients who have a variant of uncertain significance, as determined by the laboratory performing the testing may still be included if one of the following circumstances applies:
  • 4. Patients whose clinical presentation is suggestive of CMT, but CMT type and variant are unknown will be characterized by the following categories:
  • 1. Nerve conduction velocities: demyelinating, axonal, intermediate
  • 2. Inheritance: dominant, recessive, X-linked, or unknown
  • 5. Patient or patient's legally authorized representative has understood and signed an IRB approved consent form for the study. Teenagers (age 13 - 17 years) and cognitively impaired adults who are able to read and write must sign an assent form (depending on local ethics committee requirements).
  • 1. Person does not have a peripheral neuropathy, as determined by the investigator.
  • 2. Person has understood and signed an IRB approved consent form for the study. Teenagers (age 13-17 years) must sign an assent form (depending on local ethics committee requirements).
  • 1. Patient has a variant of uncertain significance that cannot be further classified following methods listed in the Inclusion Criteria.
  • 2. Patient does not wish to be a part of the study or has not signed an informed consent form.
  • 3. Patient is deemed inappropriate by the Site PI.

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Michael Shy,

Michael E Shy, MD, PRINCIPAL_INVESTIGATOR, University of Iowa

Study Record Dates

2026-12