Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others (INC-6601)
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|ClinicalTrials.gov Identifier: NCT01193075|
Recruitment Status : Recruiting
First Posted : September 1, 2010
Last Update Posted : September 13, 2017
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
|Condition or disease|
|Charcot Marie Tooth Disease|
Show Detailed Description
|Study Type :||Observational|
|Estimated Enrollment :||5000 participants|
|Official Title:||Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others|
|Actual Study Start Date :||April 1, 2010|
|Estimated Primary Completion Date :||December 1, 2019|
|Estimated Study Completion Date :||December 1, 2019|
|All other CMT|
- 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.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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|