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 : August 20, 2021
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|
|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 2022|
|Estimated Study Completion Date :||December 2022|
Families/patients with genetically confirmed CMT1B
Families/patients with genetically confirmed CMT2A
Families/patients with genetically confirmed CMT4A
Families/patients with genetically confirmed CMT4C
All other CMT
Families/patients with all other forms of CMT or CMT that has not yet been genetically identified
- 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|
|Principal Investigator:||Michael E Shy, MD||University of Iowa|