Cellular Dysfunction in Friedreich’s Ataxia
Principal Investigator: David Lynch, MD, PhD, Children’s Hospital of Philadelphia
Similar to the “Metabolic Features of Friedreich’s Ataxia” study, the purpose of this study is to evaluate the causes of cell death in Friedreich's ataxia (FA) and to create cell lines that can be shared with other companies or researchers for FA research.
Samples in this study, including fibroblasts, muscle cells, and cerebral spinal fluid, will be obtained as extraneous samples from scheduled clinical procedures. These samples will be compared with control samples to better understand the causes of cellular dysfunction in various tissues in FA. All individuals with FA are eligible to contribute samples to this study.
For more information about this study, please contact the program at 267-426-7538 or email us at FAProgram@email.chop.edu