OBJECTIVES: Friedreich ataxia (FA) is a rare, inherited neurodegenerative, progressive disorder that leads to loss of ambulation, multisystem involvement, poor quality of life, and ultimately, premature death. This study assessed real-world clinical burden of FA in the United States.

METHODS: This is a matched case-control study using Komodo Claims Data (2016-2023). Patients with FA were selected as cases; index date was defined as a random date with FA diagnosis; cases were required to have at least 12-month continuous enrollment before and after index. Individuals without early-onset cerebellar ataxia were eligible for controls. Controls were selected by matching to cases at a 5:1 ratio on age, gender, insurance, region, and continuous enrollment; the same index date as cases was assigned to matched controls. Patient characteristics during the 12-month pre-index period were summarized. For selected clinical outcomes, proportions of patients who had an event post-index were summarized and compared between cases and matched controls using generalized equation estimation models.

RESULTS: 652 FA cases (median follow-up: 26.2 months) and 3,260 matched controls (median follow-up: 28.3 months) were included. In both cases and matched controls, the mean age at index date was 33.2 years and 51.4% of patients were female. The incremental clinical burden in FA cases vs. matched controls was high. Post-index, more FA cases had loss of ambulation (62.6% vs. 1.3%; odds ratio [OR]:158.0, p<0.001), cardiomyopathy (41.9% vs. 1.4%; OR:59.2 p<0.001), scoliosis (41.4% vs. 1.6%; OR:49.0, p<0.001), falls (31.4% vs. 6.4%; OR: 7.4; p<0.001), diabetes (21.3% vs. 10.3%; OR:2.5; p<0.001), head injury (17.8% vs. 8.9%; OR:2.4; p<0.001), and fracture (17.6% vs. 6.5%; OR: 3.3; p<0.001) than matched controls.

CONCLUSIONS: Real-world data suggested patients with FA were associated with substantial and incremental clinical burden compared to matched controls and will benefit in advances in treatment for FA.