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

Summary

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

Sponsors & Collaborators

• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

  collaborator OTHER

• Johns Hopkins University

  collaborator OTHER

• National Institute of Neurological Disorders and Stroke (NINDS)

  collaborator NIH

• King's College Hospital NHS Trust

  collaborator OTHER

• Nemours Children's Hospital

  collaborator OTHER

• Stanford University

  collaborator OTHER

• University of Pennsylvania

  collaborator OTHER

• University of Rochester

  collaborator OTHER

• Children's Hospital of Philadelphia

  collaborator OTHER

• Sydney Children's Hospitals Network

  collaborator OTHER

• Rare Diseases Clinical Research Network

  collaborator NETWORK

• Muscular Dystrophy Association

  collaborator OTHER

• National Institutes of Health (NIH)

  collaborator NIH

• Charcot-Marie-Tooth Association

  collaborator OTHER

• Massachusetts General Hospital

  collaborator OTHER

• Cedars-Sinai Medical Center

  collaborator OTHER

• University of Miami

  collaborator OTHER

• University of Minnesota

  collaborator OTHER

• Connecticut Children's Medical Center

  collaborator OTHER

• University of Colorado, Denver

  collaborator OTHER

• The National Hospital for Neurology and Neurosurgery

  collaborator UNKNOWN

• Dubowitz Neuromuscular Centre

  collaborator OTHER

• Michael Shy

  lead OTHER

Principal Investigators

• Michael E Shy, MD · University of Iowa

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2010-04-01

Primary Completion

2026-12-31

Completion

2026-12-31

Countries

• United States
• Australia
• Canada
• Italy
• United Kingdom

Study Locations