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Study of Heart Function Using Exercise, MRI, Ultrasound, and Blood Tests in People Aged 12 to 50 with Friedreichs Ataxia
Led by Weill Medical College of Cornell University · Updated on 2026-07-29
100
Participants Needed
1
Research Sites
N/A
Total Duration
AI-Summary
What this Trial Is About
Friedreichs ataxia FRDA is an inherited disorder causing coordination loss and heart problems, especially cardiomyopathy, which leads to most deaths in this condition. This study aims to explore how FRDA affects heart function by using exercise tests, MRI scans, echocardiograms, and blood tests, while also examining nerve cell changes in the eye to find possible disease markers. Participants with FRDA and healthy controls will undergo several tests including cardiac magnetic resonance imaging CMR, exercise-stress testing using an arm crank, echocardiograms, and blood draws to measure markers like troponin, BNP, and creatine phosphokinase. These procedures will help identify which methods best detect heart involvement in FRDA and explore noninvasive measures reflecting neurological damage. During the study, participants will be assessed through imaging, exercise, and blood tests to measure heart and muscle damage markers. Researchers will analyze blood levels of troponin, BNP, and CPK, perform echocardiograms, and conduct exercise-stress tests to monitor cardiac function. The study involves both FRDA patients and matched healthy individuals, with the overall participation lasting until August 2027.
CONDITIONS
Brief Title
Characterization of the Cardiac Phenotype of Friedreich's Ataxia (FRDA)
Research Team
N
Niamh Savage, BS
M
Madeline Galbraith, BS
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