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
Patient has documented, pathogenic or likely pathogenic CMT-causing variant(s)
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
Nerve conduction velocities: demyelinating, axonal, intermediate
Inheritance: dominant, recessive, X-linked, or unknown
Patient has a variant of uncertain significance that cannot be further classified following methods listed in the Inclusion Criteria.
Patient does not wish to be a part of the study or has not signed an informed consent form.
Patient is deemed inappropriate by the Site PI.
Michael Shy
Lead sponsor
University of Iowa
Sponsor institution
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Collaborator
Johns Hopkins University
Collaborator
National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator
King's College Hospital NHS Trust
Collaborator
Nemours Children's Hospital
Collaborator
Stanford University
Collaborator
University of Pennsylvania
Collaborator
University of Rochester
Collaborator
Children's Hospital of Philadelphia
Collaborator
Sydney Children's Hospitals Network
Collaborator
Rare Diseases Clinical Research Network
Collaborator
Muscular Dystrophy Association
Collaborator
National Institutes of Health (NIH)
Collaborator
Charcot-Marie-Tooth Association
Collaborator
Massachusetts General Hospital
Collaborator
Cedars-Sinai Medical Center
Collaborator
University of Miami
Collaborator
University of Minnesota
Collaborator
Connecticut Children's Medical Center
Collaborator
University of Colorado, Denver
Collaborator
The National Hospital for Neurology and Neurosurgery
Collaborator
Dubowitz Neuromuscular Centre
Collaborator