NCT01193088

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

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

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 1,050 (estimated)
• Sponsor: University of Iowa · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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 description

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.

Conditions

• Charcot-Marie-Tooth Disease, Type Ia (Disorder)
• HMSN

Timeline

• Start date: 2010-05-01
• Primary completion: 2026-12-01
• Completion: 2026-12-01
• First posted: 2010-09-01
• Last updated: 2025-10-07

Locations

22 sites across 5 countries: United States, Australia, Canada, Italy, United Kingdom