OBJECTIVES: Friedreich Ataxia (FA) is a progressive and systemic neuromuscular disease, affecting ~1:20,000 births, characterized by ataxia, scoliosis, and loss of ambulation, and other clinical manifestations. Our aim was to characterize real-world healthcare resource use (HCRU) among commercially insured patients with FA in the United States (US) and compare that to non-FA patients.

METHODS: The Merative MarketScan Commercial database subset from Aug 2010 to Sept 2020 was used. Patients (children and adults) with ≥1 inpatient, or ≥2 outpatient visits separated by ≥30 days, with primary or secondary diagnosis of FA (ICD-9 334.0) prior to Oct 2015 were identified, as 334.0 was replaced by a non-specific ICD-10 code in September 2015. Those with ≥12 months of follow-up were included. HCRU by service type, age, and select clinical features were summarized and compared to a 5:1 age-, sex-, and index-year-matched comparison non-FA cohort.

RESULTS: 447 patients with FA (mean[SD] age of 34.9[17.5] years at index) and 2,309 non-FA comparison patients (35.8[17.5]) years) were included. HCRU was significantly higher among those with FA across all resource types (all p<0.001), with the most frequent being outpatient visits. FA patients had an annual mean(SD) of 30.2(34.1) outpatient visits per patient compared to 7.0(9.7) without FA. Among the outpatient visits in the FA cohort, 6.8(15.5) annual visits were to physiotherapists, 3.1(6.7) to general practitioners, 1.2(3.2) to neurologists, and 1.0(1.9) to cardiologists. Significantly more FA patients had ≥1 annual hospitalization or emergency department (ED) visit compared to non-FA patients (hospitalization: 30% vs. 5%; ED: 41% vs. 15%, p<0.001).

CONCLUSIONS: Patients with FA have significantly higher rates of HCRU, when compared to non-FA. This study demonstrates the multidisciplinary care required for this complex disease. Currently there are no disease modifying treatments for FA – these findings can help better estimate the impact of new interventions on the healthcare system.