Metabolic Features of Friedreich's Ataxia
Principal Investigator: David Lynch, MD, PhD, Children’s Hospital of Philadelphia
This study involves a one-time skin biopsy and a one-time muscle biopsy.
The skin biopsy is open to individuals over the age of 10 with a confirmed diagnosis of Friedreich's ataxia (FA) or healthy volunteers. The skin biopsy procedure is done using a small amount of local anesthetic, involves the collection of a small sample of skin from the upper arm, and is performed by Dr. Lynch.
The muscle biopsy is open to individuals over the age of 18 with a confirmed diagnosis of FA or healthy volunteers. The muscle biopsy is done using local anesthetic and involves the collection of a muscle sample from the thigh. This procedure is performed by a doctor and does not require stitches.
The purpose of this study is to evaluate the causes of cell death in Friedreich's ataxia, and to create cell lines that can be shared with other companies or researchers for FA research. The study will take approximately 30 minutes to complete or an hour to complete if you are donating a muscle sample, and may help us understand more about the metabolism and characteristics of cells in people with FA.
For more information about this study, please contact the program at 267-426-7538 or email us at FAProgram@email.chop.edu.