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 17, 2020
|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 :||May 2010|
|Estimated Primary Completion Date :||April 2021|
|Estimated Study Completion Date :||April 2021|
Families/people with genetically defined CMT1A
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
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): NCT01193088
|Contact: Shawna 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|