Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others (INC-6601)
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
|Charcot Marie Tooth Disease|
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others|
- Charcot Marie Tooth Neuropathy Score (CMTNS) [ Time Frame: 1 year ]Charcot Marie Tooth Neuropathy Score (CMTNS) is a composite measure of disability based on a person's symptoms, signs, and electrophysiology. It is based on a 36 point scale, with 9 items each worth up to 4 points. A higher score signifies increased disability.
- Minimal dataset [ Time Frame: 1 year ]This includes diagnosis, family history, developmental history, walking ability, hand function, strength, sensation, and neurophysiology.
|Actual Study Start Date:||April 1, 2010|
|Estimated Study Completion Date:||December 1, 2019|
|Estimated Primary Completion Date:||December 1, 2019 (Final data collection date for primary outcome measure)|
|All other CMT|
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Please refer to this study by its ClinicalTrials.gov identifier: NCT01193075
|Contact: Shawna M Feely, MS, CGC||319-384-6362||UICMTClinic@uiowa.edu|
|Contact: Tiffany Grider, MS, CGC||319-384-6362||UICMTClinic@uiowa.edu|
Show 23 Study Locations
|Principal Investigator:||Michael E Shy, MD||University of Iowa|