Cellular and Molecular Pathophysiology of Facioscapulohumeral Dystrophy (FSHD) [also called the "CAMP Study"]

PurposeThis study is being conducted to determine which gene is affected in FSHD. Knowing which gene is responsible for FSHD is critical to devising effective treatments. DNA test results will be compared to clinical information collected during a physical examination to provide researchers with a better understanding about the causes of FSHD. Another purpose of this research is to study the development of the blood supply in muscle tissue and in the eyes of people with FSHD. To look at the development of the blood supply, subjects are asked to provide a muscle sample (obtained through needle biopsy) and to have a retinal specialist evaluate their eyes through a test called "fluorescein angiography."
Details Study Number
22880
Accepts Adults?
Yes
Accepts Children?
No
Fully Enrolled?
No
Contacts Principal Investigator
Rabi Tawil, MD
Contact
Colleen Donlin-Smith, MA, CCRC, 585-275-7680

For More Information

Please call the phone number listed above and the clinical trial coordinator will contact you.