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:


18 and under
18 to 65
65 and over



Can be done from home



Friedreich ataxia, Ataxia, Friedreich's ataxia, Friedreich\'s ataxia, Neurology

Principal Investigator

S.H. Subramony, MD



Contact Information

(352) 294-8754

Be an Informed Participant

Before deciding to participate in a research study, take time to learn about clinical research, how it's conducted and your rights as a research participant. Following are some helpful resources from independent sources. Always remember that a clinical research study is research, not treatment.

Know Who to Contact

  • Eligibility: For questions about a specific study and who is eligible to participate, call or email the contact person listed for that study.
  • Your Rights: For questions about your rights as a research participant, contact the UF Institutional Review Boards at 352-273-9600.
  • Feedback: For general questions or feedback about study listings, email the UF Clinical and Translational Science Institute at

Other Resources

  • HealthStreet: Health-focused services, classes and events, and opportunities to participate in research.
  • Join a national registry of volunteers willing to be contacted about research studies.

For Research Teams