Natural History Study of Individuals with Friedreich's Ataxia (FA)
Principal Investigator: David Lynch, MD, PhD, Children's Hospital of Philadelphia
The goal of this study is to develop measures to assess short-term disease progression in Friedreich's ataxia. The study follows participants annually. Any person over age 4 with a confirmed diagnosis of Friedreich's ataxia is eligible to participate. The study is being conducted at multiple sites in the United States, including Children's Hospital of Philadelphia, as well as Canada and Australia.
Study participation involves a simple neurological exam performed by a physician, as well as tests which measure arm and leg function along with visual acuity and hearing. There are also several short self-reported questionnaires. Lastly, there are optional cheek swab and blood collections. All participant information is entered into a database which is useful in identifying potential clinical trial candidates.
For more information about this study, please contact the program at 267-426-7538 or email us at FAProgram@email.chop.edu.