This study is similar to the Natural History Study, but specifically follows Friedreich's ataxia (FA) progression in children (< 18 years). This study will follow participants biannually (twice a year) over the course of three years (two visits per year, every six months). Participants will be reimbursed up to $500 for travel related expenses for each visit.
Visits will closely mirror those of the annual Natural History study, and includes performance measures such as the 9-Hole Peg Test, timed walks (25 foot walk, one-minute walk, six-minute walk), questionnaires and neurological assessments. A blood draw to collect research samples will be completed biannually.
The purpose of the study is to identify ways to follow progression of FA and measure changes over time in children. We hope to identify biological and clinical tests to be used in future clinical trials.
This study is being conducted over three sites: Children’s Hospital of Philadelphia (CHOP), University of Florida, and UCLA. CHOP will have the most participants with 60/100. Out of CHOP’s 60 participants, a select number will have the opportunity to participate in further procedures to better understand how FA affects different tissues (the physiology changes in affected tissues). The additional procedures are: a Motor Evoked Potentials (MEP) test or an MRI scan of the calf muscle. The MEP test measures how strong the connection is between the brain’s motor cortex and a selected body part; we will be using the dominant hand. The MRI scan will look at how FA affects muscle activity. Both are noninvasive procedures that last about one hour.
For more information about this study, please contact the program at 267-426-7538 or email us at FAProgram@email.chop.edu