Biomarkers in Friedreich's Ataxia: Observational Study Using MRI, Echocardiography, and Exercise Testing

What this Trial Is About

Researchers are studying Friedreich's ataxia (FA), a rare hereditary disease caused by a mutation in the frataxin gene. This condition affects neuromuscular function and cardiac performance. The study aims to use new techniques like echocardiography, magnetic resonance imaging (MRI), metabolic exercise testing, and neurophysiological assessments to better understand cardiac and neuromuscular measures in people with FA. This research is important as it helps identify sensitive, non-invasive ways to track the impact of future treatments for FA patients. Participants include people with FA aged 6 to 70, healthy controls in the same age range, and carriers of the FA gene aged 18 to 70. The study involves several assessments such as genetic testing, cardiac and exercise MRI, echocardiograms, metabolic exercise testing using a bike or hand ergometer, pulmonary function tests, gait analysis, and rating scales like the Friedreich's Ataxia Rating Scale (FARS) and Scale for the Assessment and Rating of Ataxia (SARA). Optional procedures include blood draws, skin biopsies, and muscle biopsies. During the study, participants will undergo multiple evaluations at baseline and follow-up visits to monitor cardiac MRI, echocardiogram results, neuromuscular function tests, metabolic exercise responses, and pulmonary function. Researchers will also assess motor skills with tests like the 9-Hole-Peg Test and collect samples when possible. The study tracks these measures over time to better understand FA progression and to support the development of new therapies. Total participation time varies by visit schedule and assessments.

Biomarkers in Friedreich's Ataxia