Global Natural History Study of Friedreich Ataxia to Understand Disease Progression and Support Treatment Development

What this Trial Is About

Researchers are conducting a global, multicenter, prospective, longitudinal, observational natural history study to better understand Friedreich ataxia, a rare inherited neurological and cardiac condition caused by mutations in the FXN gene. This study aims to support the development of safe and effective drugs and biological treatments by tracking the disease progression in diagnosed individuals worldwide over time. Participants will be assessed annually for up to 25 years through yearly study visits. Data collection includes medical records, neurological exams, timed walking tests, upper limb function measures, and patient-reported quality of life assessments. Additional optional assessments at some sites may cover speech, vision, fatigue, balance, and cognition. This study combines previous natural history studies to strengthen data and expand research networks globally. During the study, participants will undergo evaluations such as neurological and functional assessments, cardiac examinations, laboratory tests, and health questionnaires. Researchers will monitor changes in clinical outcomes like disease progression, symptom severity, and quality of life using measures including the modified Friedreich Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. This long-term observation aims to identify disease milestones, track treatment impacts, and inform future clinical trials and outcome measures.

Friedreich Ataxia Global Clinical Consortium UNIFIED Natural History Study