Cardiac Imaging Biomarkers in Friedreich's Ataxia

Biomarkers are urgently needed to assist in the clinical care and the design of clinical trials for Friedreich´s ataxia (FRDA). Neuroimaging-based parameters have emerged as potential candidates, although further studies are necessary to validate them. In particular, cardiac magnetic resonance imaging (cMRI) has emerged as a promising diagnostic technique. In FRDA, cardiac studies have not received as much research interest as the neurological manifestations, despite heart failure being the main cause of death in such patients. For this reason, further studies in this area are needed to provide relevant information on the natural history and pathophysiology of the disease in order to identify useful and sensitive biomarkers for clinical trial and follow-up. Therefore, this research proposal centers on the following objectives: 1. To characterize and quantify cardiac damage in pediatric patients with FRDA, patients with long-standing FRDA, and patients with late-onset FRDA (LOFA); 2. To characterize the longitudinal progression of such damage in each of these groups; 3. To investigate whether image parameters correlate with clinical measures, mainly ataxia severity.