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Biomarkers in Friedreich's Ataxia

RecruitingObservational studyHealthy volunteers welcome

Who can join

Ages 6 to 70 · All sexes · Healthy volunteers welcome

Full eligibility criteria
Inclusion Criteria:

* Genetic diagnosis of Friedreich's ataxia by DNA sequencing, mutational analysis or protein assay OR be a healthy subject with no evidence of a neuromuscular disorder
* Between the ages of 6 and 70 (inclusive)
* Are able to tolerate metabolic exercise testing
* Are stable on cardiac medication regimen for 3 months prior to screening

Exclusion Criteria:

* Presence of unstable heart disease
* Receipt of cardiac transplant
* Any concurrent medical condition which, in the opinion of the investigators, would make the subject unsuitable for the study

About the study

The purpose of this project is to characterize measures of cardiac performance and neuromuscular physiology in FA patients using novel techniques, including echocardiography and magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological outcomes.

Sponsor: University of Florida · Participants: 203 · Started: 2015-09

Contact the study team

Official record on ClinicalTrials.gov — NCT02497534

Locations in the U.S.

FloridaUniversity of Florida, Gainesville

Conditions

From ClinicalTrials.gov, data retrieved Oct 2, 2026. Each study sets its own eligibility; the study team decides who can join.