OBJECTIVES: Friedreich Ataxia (FA) is a progressive and systemic neurologic movement disorder, characterized by worsening ataxia, scoliosis, loss of ambulation, and several secondary impacts. This study aimed to characterize the age at scoliosis, cardiomyopathy, and diabetes among a cohort of patients with FA, using retrospective United States (US) claims data.

METHODS: The US Merative MarketScan Commercial database from Aug 2010 to Sept 2020 was used. All incident patients with FA (ICD-9 334.0) prior to Oct 2015 were identified. Incidence was defined with an 18-month washout period. Included patients were followed up for 12-months. This 30-month period was used to observe the onset of various disease indicators by age at FA diagnosis.

RESULTS: Of the 269 patients with FA, 43(16.0%) were diagnosed <16 years (mean[range] age at diagnosis of 10.9[1-15]), 34(12.9%) between 16-24 years (20.2[16-24]), and 192(71.4%) were >24 years (46.1[25-64]). Within the 30-month period leading up to and following the initial FA diagnosis, the majority of the earlier onset patients had scoliosis (72.1% among those <16; 67.6% among 16-24; 13.5% among >24 years), with the mean(range) age being 10.6(1.0-14.7), 18.3(12.6-24.0), and 41.2(23.0-61.0) years at first captured incidence, respectively. Cardiomyopathy was most frequently observed among those diagnosed between the ages of 16-24 years (50.0%), followed by those <16 (37.2%) and >24 years (27.1%); with age estimates of 18.8(12.4-23.5), 10.8(7.1-14.4), and 39.3(23.8-62.5) years, respectively. Diabetes was not frequently observed among the earlier onset patients (7.0% among those <16; 8.8% among 16-24; 28.1% among >24 years), with age estimates of 8.8(2.6-12.7), 20.5(20.2-21.2), 47.4(21.5-62.2) years, respectively.

CONCLUSIONS: In this cross-sectional analysis, cardiomyopathy and scoliosis were observed in patients with FA starting in childhood and adolescence. Diabetes was observed more frequently in the older age at onset group. There is an unmet need for treatments that can be initiated at a young age and effectively delay disease progression.