Journal of the neurological sciences · 2025
The clinical burden of Friedreich ataxia in the United States: A retrospective claims database analysis.
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Perlman Susan, Zhang Su, Setyawan Juliana, Yang Hongbo, Jiang Anya, Hua Qi, Boudreau Julien, Khan Seemi, Bajaj Abhishek, Lynch David R, Lawson Richard
Аннотация
BACKGROUND: Friedreich ataxia (FRDA) is a terminal, rare, autosomal recessive genetic disorder associated with debilitating comorbidities. However, limited real-world data on clinical outcomes associated with FRDA have been presented.
METHODS: The Komodo Research Data (01/2016-03/2023) was used to identify patients with FRDA who had ≥2 independent non-diagnostic early-onset cerebellar ataxia codes, 1 non-diagnostic FRDA specific code, and ≥12 months of continuous enrollment before and after the index date (defined as a random date with FRDA diagnosis). Individuals without early-onset cerebellar ataxia were eligible for controls. The controls were matched at a 5:1 ratio on age, sex, insurance type, US region, and continuous enrollment and assigned the same index date as the matched patients.
RESULTS: After matching, the study included 652 patients with FRDA and 3260 matched controls (mean age 33.2 years; 51.4 % females). During the follow-up period (median 26.2 months for cases and 28.3 months for controls), the incremental clinical burden in FRDA cases vs. matched controls was high: patients with FRDA had significantly higher odds of loss of ambulation (odds ratio: 158.0 [95 % confidence interval (CI): 112.4-222.3]), cardiomyopathy (59.2 [41.6-84.1]), scoliosis (49.0 [35.4-67.9]), falls (7.4 [5.9-9.2]), diabetes (2.5 [2.0-3.2]), head injury (2.4 [1.9-3.0]), and fracture (3.3 [2.6-4.2]) compared to controls (all p < 0.001). Patients with FRDA also experienced a higher risk of mortality than controls (hazard ratio: 3.9 [95 % CI: 2.4-6.4]).
CONCLUSIONS: Real-world data suggested patients with FRDA were associated with substantial and incremental clinical burden compared to matched controls and will benefit in advances in treatment for FRDA.
METHODS: The Komodo Research Data (01/2016-03/2023) was used to identify patients with FRDA who had ≥2 independent non-diagnostic early-onset cerebellar ataxia codes, 1 non-diagnostic FRDA specific code, and ≥12 months of continuous enrollment before and after the index date (defined as a random date with FRDA diagnosis). Individuals without early-onset cerebellar ataxia were eligible for controls. The controls were matched at a 5:1 ratio on age, sex, insurance type, US region, and continuous enrollment and assigned the same index date as the matched patients.
RESULTS: After matching, the study included 652 patients with FRDA and 3260 matched controls (mean age 33.2 years; 51.4 % females). During the follow-up period (median 26.2 months for cases and 28.3 months for controls), the incremental clinical burden in FRDA cases vs. matched controls was high: patients with FRDA had significantly higher odds of loss of ambulation (odds ratio: 158.0 [95 % confidence interval (CI): 112.4-222.3]), cardiomyopathy (59.2 [41.6-84.1]), scoliosis (49.0 [35.4-67.9]), falls (7.4 [5.9-9.2]), diabetes (2.5 [2.0-3.2]), head injury (2.4 [1.9-3.0]), and fracture (3.3 [2.6-4.2]) compared to controls (all p < 0.001). Patients with FRDA also experienced a higher risk of mortality than controls (hazard ratio: 3.9 [95 % CI: 2.4-6.4]).
CONCLUSIONS: Real-world data suggested patients with FRDA were associated with substantial and incremental clinical burden compared to matched controls and will benefit in advances in treatment for FRDA.