Retrospective Study on 6-month Effects of Omaveloxolone Treatment on Dysphagia in French Friedreich's Ataxia Patients

What this Trial Is About

Friedreich's ataxia (FA) is a rare inherited disease that affects the nervous system and heart, mainly starting in children and young people. It causes worsening problems with movement, speech, swallowing, and heart health, often leading to loss of independence and shorter life expectancy. Heart disease is the leading cause of death in FA. Dysphagia, or difficulty swallowing, is a serious symptom that can cause malnutrition, dehydration, pneumonia, and social isolation but has not been well studied in clinical trials, including those involving Omaveloxolone. This research studies the effect of Omaveloxolone, a drug approved for early access in France for patients aged 16 and older with FA, focusing on its impact on dysphagia after six months of treatment. Participants received Omaveloxolone daily at a dose of 150 mg (three 50 mg capsules). The study evaluates patients who started treatment between February 2024 and May 2025, assessing swallowing difficulties using the Sydney Swallow Questionnaire at the start and after six months. Participants will complete the Sydney Swallow Questionnaire to measure dysphagia severity at baseline and after six months of treatment. Researchers will also compare swallowing scores with neurological assessments using the Scale for the Assessment and Rating of Ataxia. Additional factors such as walking ability and genetic markers will be analyzed for their impact on dysphagia. The study is observational and involves monitoring patient outcomes over six months of treatment with Omaveloxolone.

Efficacy of Omaveloxolone Treatment for Dysphagia in French Patients With Friedreich's Ataxia