Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
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Conditions studied: Friedreich's Ataxia
In brief
Friedreich's ataxia (FRDA) is an autosomal recessive disease characterized by loss of coordination and cardiomyopathy. It is the most common form of inherited ataxia with an incidence in 1/50,000 in the Caucasian population. FRDA is associated with progressive damage to the nervous system, resulting in symptoms ranging from gait disturbance to speech problems, as well as diabetes and heart disease. The heart disease manifests as cardiomyopathy, and is responsible for approximately 60% of deaths from FRDA. This study is designed to characterize the cardiac manifestations of the disease using exercise, MRI, ECHO and serum parameters, in the context of the neurological disease. In addition, this study will demonstrate that corneal confocal microscopy (CCM) may also provide a biomarker for FRDA.
Key facts
- Study ID
- NCT02316314
- Run by
- Weill Medical College of Cornell University
- People needed
- 100
- Starts
- 2015-01-15
- Expected to finish
- 2027-08-01
- Last updated by the study team
- 2026-07-29
Who can join
Age: 12 and older, up to 50. Sex: any. Healthy volunteers: accepted.
Where it is running
- Weill Cornell Medicine — New York, New York, United States (enrolling)
Full record on ClinicalTrials.gov
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