Friedreich's Ataxia Program

Friedreich's Ataxia Research at The Children's Hospital of Philadelphia

The Children's Hospital of Philadelphia has a longstanding commitment to Friedreich's Ataxia research. Our recent and ongoing studies are either self-funded or are funded by the Friedreich Ataxia Research Alliance (FARA).

Current studies

Natural History Study of Individuals with Friedreich's Ataxia (FA)

Principal Investigator: David Lynch, MD, PhD, The Children's Hospital of Philadelphia
Sponsor: FARA
The goal of this study is to develop measures to assess short-term disease progression in Friedreich Ataxia. The study follows participants annually. Any person with a confirmed diagnosis of Friedreich ataxia is eligible to participate. The study is being conducted at multiple sites in the United States, including The 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 three simple tests, which measure arm, leg and speech function. These include a 25 ft timed walk, a 9-hole pegboard test and a simple speech test. There are also several short self-reported questionnaires on activities of daily living, and a basic vision test. 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.

Mitochondrial Proteomics in Friedreich's Ataxia (FA)

Principal Investigator: David Lynch, MD, PhD, The University of Pennsylvania
Sponsor: Investigator Funded
This study involves a one-time blood draw of 80-100 cc (approximately 4-5 tablespoons). Any person over the age of 18 with a confirmed diagnosis of Friedreich ataxia is eligible to participate. The purpose of this study is to evaluate the proteins in the mitochondria, the "powerhouse" of cells, from blood of individuals with Friedreich ataxia. The study will take approximately 30 minutes to complete and may help us understand how Friedreich ataxia leads to abnormal regulation of iron in the mitochondria.

Optical Coherence Tomography in Friedreich's Ataxia (FA)

Principal Investigator: David Lynch, MD PhD The Children’s Hospital of Philadelphia
Co-investigator: Laura Balcer, MD, MSCE The Hospital of the University of Pennsylvania
This observational study is meant to help characterize the visual dysfunction sometimes seen in Friedreich 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 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 two different OCT machines; no pupil dilation is necessary. This study is open to any individual with Friedreich ataxia, irrespective of where he or she receives medical care. Relatives of patients of Friedreich ataxia can also participate in this study, and will act as controls in our data analysis.

Examining the Contribution of Cardiomyopathy to Disease Progression in Friedreich Ataxia Patients

Principal Investigator: David Lynch, MD PhD The Children’s Hospital of Philadelphia
Sponsor: FARA and NIH
This retrospective study hopes to further the understanding of the way the heart changes in Friedreich ataxia, with the goal to provide accurate prognostic information to patients. This study entails record review of all cardiac testing (such as ECGs and echocardiograms), and is open to any individual with Friedreich ataxia, irrespective of where he or she receives medical care.

A Single Center Open-Label Extension Study of A0001 in Friedreich's Ataxia

Principal Investigator: David Lynch, MD PhD The Children’s Hospital of Philadelphia
Sponsor: Endo Pharmaceuticals
This is a six month study open to individuals who successfully completed the double-blind study of A0001 in Friedreich ataxia, which concluded in December 2010. Subjects in the open-label extension study receive A0001 and return to CHOP for monthly assessment (neurological exam, timed testing, questionnaires, blood and urine analysis) in addition to periodic home-based blood draws. This study is currently on administrative hold pending the results of the double-blind study of A0001 in Friedreich ataxia, anticipated early spring 2010. 

Learn more

For more information about these studies, please contact the program at 267-426-7584 or e-mail us at FAProgram@email.chop.edu.

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