RECRUITING

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

Conditions

Charcot Marie Tooth Disease CMT HMSN HMN HSN CMT1 CMT2

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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

Official Title

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

Quick Facts

Study Start:2010-04-01

Study Completion:2026-12

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT01193075

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.

Ages Eligible for Study:Not specified

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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.	Pregnancy or breastfeeding Severe psychiatric disorders Active substance abuse Unstable medical conditions Inability to comply with study requirements

Inclusion Criteria

Exclusion 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.

Pregnancy or breastfeeding
Severe psychiatric disorders
Active substance abuse
Unstable medical conditions
Inability to comply with study requirements

Contacts and Locations

Study Contact

Nicole M Kressin, MSN, RN

CONTACT

319-384-6362

UICMTClinic@uiowa.edu

Tiffany Grider, MS, CGC

CONTACT

319-384-6362

UICMTClinic@uiowa.edu

Principal Investigator

Michael E Shy, MD

PRINCIPAL_INVESTIGATOR

University of Iowa

Study Locations (Sites)

Cedars-Sinai Medical Center

Los Angeles, California, 90048

United States

Stanford University

Palo Alto, California, 94305

United States

University of Colorado Hospital

Aurora, Colorado, 80045

United States

University of Connecticut/Connecticut Children's Medical Center

Hartford, Connecticut, 06106

United States

Children's National Hospital

Washington, District of Columbia, 20010

United States

University of Miami

Miami, Florida, 33136

United States

Nemours Children's Health

Orlando, Florida, 32827

United States

Nemours Children's Hospital

Orlando, Florida, 32827

United States

University of Iowa

Iowa City, Iowa, 52242

United States

Johns Hopkins University

Baltimore, Maryland, 21205

United States

Harvard/Massachusetts General Hospital

Boston, Massachusetts, 02114

United States

University of Michigan

Ann Arbor, Michigan, 48109

United States

University of Minnesota

Minneapolis, Minnesota, 55455

United States

University of Rochester

Rochester, New York, 14642

United States

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104

United States

University of Pennsylvania

Philadelphia, Pennsylvania, 19104

United States

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105-3678

United States

Seattle Children's Hospital

Seattle, Washington, 98105

United States

Collaborators and Investigators

Sponsor: Michael Shy

Michael E Shy, MD, PRINCIPAL_INVESTIGATOR, University of Iowa

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2010-04-01

Study Completion Date2026-12

Study Record Updates

Study Start Date2010-04-01

Study Completion Date2026-12

Terms related to this study

Keywords Provided by Researchers

Charcot Marie Tooth disease
CMT
HMSN
HMN
HSN
CMT1
CMT2

Additional Relevant MeSH Terms

Charcot Marie Tooth Disease