Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2 (INC-6602)
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|ClinicalTrials.gov Identifier: NCT01193088|
Recruitment Status : Recruiting
First Posted : September 1, 2010
Last Update Posted : September 13, 2017
|Condition or disease|
|Charcot-Marie-Tooth Disease, Type Ia (Disorder) HMSN|
|Study Type :||Observational|
|Estimated Enrollment :||1050 participants|
|Official Title:||Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT|
|Actual Study Start Date :||April 2010|
|Estimated Primary Completion Date :||December 2019|
|Estimated Study Completion Date :||December 2019|
Genetically undefined CMT
Families/people with genetically undefined CMT with common causes ruled out.
- Charcot Marie Tooth disease type 1A (CMT1A) gene modifiers [ Time Frame: once ]While the same genetic change - an extra copy of PMP22 - causes CMT1A by definition, it is unclear why some people have more severe symptoms and some have less severe. We are looking for genetic modifiers - changes in the DNA that may be causing the differences in symptoms.
- New genetic causes of CMT [ Time Frame: Once ]At least 33% of people with CMT have an unknown or genetically un-found form of the condition. We are looking for additional genes that cause CMT when mutated.
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01193088
|Contact: Shawna Feely, MS, CGC||319-384-6362||UICMTClinic@uiowa.edu|
|Contact: Tiffany Grider, MS, CGC||319-384-6362||UICMTClinic@uiowa.edu|
Show 22 Study Locations
|Principal Investigator:||Michael E Shy, MD||University of Iowa|