Natural History of Friedreich’s Ataxia in Children
This study aims to advance clinical care, research and therapeutic approaches in Friedreich's ataxia (FA) through the development and validation of clinical outcome measures in FRDA, collection of quantitative serial clinical data on patients and expansion of our established research network. A secondary aim is to investigate frataxin dipsticks (buccal cells swabs and blood samples) designed to measure frataxin protein.
- Biyearly assessments of a core set of clinical measures and quality of life assessment measures
- These assessments include: Friedreich’s Ataxia Rating Scale (FARS), timed 9-Hole Peg Test (9HPT), Timed 25 Foot Walk (T25FW), Pediatric Quality of Life questionnaire (PedsQL), Activities of Daily Living (ADL) scales, Ataxia disability score, and two extended walking tests for 1 minute and 6 minutes.
- Whole blood and buccal swab samples will be obtained to monitor frataxin levels
For study details, please contact Amanda Cowsert:
- 2 - 18 years old
- Genetically confirmed diagnosis of FRDA or clinically confirmed diagnosis of FRDA, pending confirmatory genetic testing through a commercial or research laboratory
- Parental/guardian permission (informed consent) and if appropriate, child assent
Additional criteria apply, please contact Amanda Cowsert:
Can be done from home
KeywordsFriedreich ataxia, Ataxia, Friedreich's ataxia, Friedreich\'s ataxia, Neurology
Principal InvestigatorS.H. Subramony, MD
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