Clinical Trial: Genetics of Charcot Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT2

Study Status: Completed
Recruit Status: Unknown status
Study Type: Observational

Official Title: Genetics of Charcot Marie Tooth Disease (CMT) - Modifiers of CMT1A, New Causes of CMT

Brief Summary: This project includes two projects. One is looking for new genes that cause Charcot Marie Tooth disease (CMT). The other is looking for genes that do not cause CMT, but may modify the symptoms a person has.

Detailed Summary: This project is to understand modifier genes and how they influence the severity of disease expression, along with identifying new forms of CMT which have not been genetically determined. Subjects who are eligible will either have CMT type 1A (CMT1A) or an unknown form of CMT. Blood will be drawn and sent to the University of Miami where they receive the coded sample and process it through exome sequencing. Subjects will be told that this is optional.
Sponsor: University of Iowa

Current Primary Outcome:

  • 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.


Original Primary Outcome:

  • 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 type 2 (CMT2) [ Time Frame: Once ]
    Only about 35% of people with axonal forms of CMT (CMT2) have a known genetic cause. We are looking for additional genetic causes of CMT2.


Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Iowa

Dates:
Date Received: August 9, 2010
Date Started: April 2010
Date Completion:
Last Updated: May 14, 2015
Last Verified: May 2015