Clinical Research Network in Friedreich’s Ataxia
To advance clinical care, research and therapeutic approaches in Friedreich's ataxia (FA) through the development and validation of clinical outcome measures in FA, collection of quantitative serial clinical data on patients and expansion of our established research network. A secondary objective is to build a parallel DNA repository for use in large scale translational research including modifier gene studies. Lastly, we will investigate frataxin dipsticks (cheek swabs) designed to measure frataxin protein.
- Yearly assessments of a core set of clinical measures and quality of life assessment measures. A onetime collection of blood for DNA
- Extra blood collection at each visit is obtained for blood bank/repository, RNA, and frataxin analysis
- A collection at each visit of a cheek swab sample for validation of protein/biomarker analysis
For study details, please contact Amanda Cowsert:
- Ages 4 - 80 years old
- Genetically confirmed diagnosis of FA (for carrier/control cheek swab samples this is not required)
- 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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