Background: Friedreich ataxia (FA) is a rare genetic neurodegenerative disorder with multisystem involvement, typically first presenting with ataxia. Omaveloxolone, an Nrf2 activator, became the first approved therapy for FA to slow disease progression. Limited data exist on the appearance of FA symptoms prior to omaveloxolone initiation in the real world.
Objective: To describe clinical events and patient profiles in individuals with FA prior to omaveloxolone initiation using US medical claims.
Methods: This retrospective study analyzed de-identified claims from the Komodo Healthcare Map from October 2015 to September 2025. Eligible patients had ≥2 FA claims (ICD-10-CM G11.11) ≥30 days apart, ≥1 inpatient claim for FA, or 1 FA claim and ≥1 claim for early-onset cerebellar ataxia (G11.1) ≥30 days apart. Additional criteria included ≥1-year enrollment before the first FA-related claim and birth year data availability. Key endpoints included patient characteristics and clinical symptoms in bulbar, breathing, and mobility impairment domains from the time of FA diagnosis to omaveloxolone initiation (approved by US FDA in February 2023).
Results: A total of 466 patients received omaveloxolone; 49% were female. Median (IQR) age at diagnosis was 25 (17-41) years, and age at first omaveloxolone prescription was 28 (20-45) years. From the time of FA diagnosis to omaveloxolone initiation, the proportion of patients with speech impairment increased from 13% to 28% and swallowing impairment from 9.2% to 28%. Breathing impairment increased from 13% to 36%. Mobility-related measures also worsened: ataxia/gait/sitting impairment increased from 64% to 98% and limb coordination impairment from 30% to 47%. Loss of ambulation increased from 9% to 35%; use of walkers increased from 4.5% to 11%, manual wheelchairs from 10% to 45%, and power wheelchairs from 3.2% to 16%.
Conclusions: These findings highlight that patients with FA experienced progressive worsening of symptoms, including bulbar, respiratory, and mobility impairments, between initial diagnosis and initiation of omaveloxolone. This underscores the importance of identifying decision points that should prompt earlier treatment intervention.