Principal Investigator: David Lynch, MD PhD, Children’s Hospital of Philadelphia
Co-investigator: Laura Balcer, MD, MSCE, Hospital of the University of Pennsylvania
This observational study is meant to help characterize the visual dysfunction sometimes seen in Friedreich's ataxia. We hope to determine how well existing measures of visual and neurologic function (i.e. neurological exam, pegboard testing, 25 foot walk, etc.) reflect the loss of neurons and axons in the visual pathway of individuals with Friedreich's ataxia, as measured by optical coherence tomography (OCT). If shown to be a good marker of disease progression, OCT testing may be introduced into future clinical trials as an outcome measure.
This testing involves scans of each eye by an OCT machine; no pupil dilation is necessary. This study is open to any individual with Friedreich's ataxia, irrespective of where he or she receives medical care. Relatives of patients of Friedreich's ataxia can also participate in this study, and will act as controls in our data analysis.
For more information about this study, please contact the program at 267-426-7538 or email us at FAProgram@email.chop.edu.