Efficacy and Safety of Omaveloxolone in Friedreich Ataxia: Real‐World Data from an Advanced Disease Cohort

Background Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disorder. Omaveloxolone is the first disease‐modifying treatment approved for FRDA. To date, real‐world data remain limited. Objectives To report short‐term efficacy and safety data from a real‐world FRDA cohort of advanced patients and explore potential predictors of treatment response. Methods We conducted a prospective study on 27 consecutive genetically‐confirmed FRDA patients treated with Omaveloxolone for 3–6 months. Scores at the modified Friedreich‐Ataxia‐Rating‐Scale (mFARS), peripheral neuropathy severity, cardiac involvement, cognitive‐affective syndrome, ambulatory status, and the presence of pes cavus were assessed at baseline. Wilcoxon test was used to compare baseline vs. follow‐up mFARS scores. mFARS changes in ambulatory and non‐ambulatory patients were evaluated using a two‐way ANOVA. Patient Global Impression of Change (PGI‐C) was collected and adverse events (AEs) and laboratory data monitored. Results Twenty‐six patients (median age and disease duration 42.5 and 24.5 years respectively) remained on therapy for at least 3 months. Total mFARS scores improved by 1.5 points ( P = 0.007), with significant changes in the subscore of lower limb coordination (−1.5, P = 0.022). PGI‐C indicated a perception of improvement in 42.3% of patients. Baseline demographic‐clinical features did not correlate with the percentage improvement in mFARS score, and no differences were observed between ambulatory and non‐ambulatory patients. No serious AEs occurred. Conclusions Our findings support the efficacy and safety of Omaveloxolone in a real‐world setting, being in line with data observed in the MOXIe trial, although our cohort is highly different in terms of age, disease duration, and severity.