Study of Heart Disease Progression in Participants With Friedreich Ataxia-Associated Cardiomyopathy

What this Trial Is About

Researchers are studying the characteristics and progression of cardiomyopathy linked to Friedreich Ataxia FA-CM, a genetic condition affecting the heart. This observational, global study aims to understand how cardiac disease presents and changes over time in participants diagnosed with FA-CM. The study includes both children and adults with genetically confirmed FA-CM and left ventricular hypertrophy and reduced ejection fraction. Participants are divided into two groups based on age those 16 years and older, and those between 6 and under 16 years old. The study follows participants for at least 26 weeks to track disease progression. After this period, eligible participants may have a chance to join an interventional gene therapy study. The study involves no investigational treatments but focuses on monitoring disease features and changes. During the study, participants undergo assessments including cardiac imaging to evaluate heart structure and function, laboratory tests such as measuring high sensitivity troponin I, and questionnaires assessing illness perception and severity. Researchers will measure changes in left ventricular wall thickness, mass, ejection fraction, medication use, and evaluate major cardiovascular events and mortality over 12 months. The total participation duration and follow-up include detailed evaluations to better understand FA-CM progression.

Clinical Course Of Disease In Participants With FA-CM