Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Michael Shy
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
Description
The Inherited Neuropathies Consortium (INC) is a member of the Rare Disease Clinical Research Network (RDCRN) that is funded by the National Institutes of Health (NIH) through the Office of Rare Diseases (ORD) and the NINDS. The University of Iowa is the lead center in INC which also includes sites from the University of Pennsylvania, Children's Hospital of Philadelphia (CHOP), the University of Rochester (NY), the National Hospital for Neurology and Neurosurgery in London England, the Dubowicz Neuromuscular Center, and the University of Miami (Florida). The North American CMT Network is an ad…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: All patients must be seen in-person at a participating center for the initial visit. Inclusion Criteria - patients with CMT (all subtypes) 1. Patient has documented, pathogenic or likely pathogenic CMT-causing variant(s) OR 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 i. A clear link is necess…
Locations (22)
- Cedars-Sinai Medical CenterLos Angeles, California
- Stanford UniversityPalo Alto, California
- University of Colorado HospitalAurora, Colorado
- University of Connecticut/Connecticut Children's Medical CenterHartford, Connecticut
- Children's National HospitalWashington D.C., District of Columbia
- University of MiamiMiami, Florida