Avaliação de tecnologias em saúde para doença de Gaucher no Brasil: análise de sobrevivência, custos e fronteira da eficiência.

Abstract

Gaucher disease is a rare, chronic, and progressive genetic condition whose treatment involves high-cost therapies provided by the Brazilian Unified Health System. Although the therapies currently incorporated have demonstrated efficacy in clinical trials, real-world evidence on their effectiveness, adherence, and cost-benefit is still limited. This study aimed to assess, from a Health Technology Assessment perspective, the clinical and economic performance of therapies used for Gaucher disease treatment in Brazil, based on national administrative data. Two complementary studies were conducted. The first, a retrospective population-based cohort, used data from the Ambulatory Information System, Hospital Information System, and Mortality Information System, linked through deterministic-probabilistic matching. Patients with a diagnosis of Gaucher disease (ICD-10 E75.2) who received imiglucerase between 2000 and 2015 were included. Survival was estimated using Kaplan-Meier curves, and factors associated with the risk of death were analyzed using Cox proportional hazards models. Adherence was estimated using defined daily dose calculations. The second study, an economic evaluation, applied the Efficiency Frontier methodology to compare the cost-benefit relationship of imiglucerase, velaglucerase alfa, taliglucerase alfa, and miglustat, using national public drug distribution data from 1999 to 2022 and clinical outcome estimates extracted from the literature. Costs per unit of outcome (increase in hemoglobin and platelets) were estimated, dominated technologies were identified, and maximum prices compatible with observed clinical benefits were calculated. The results indicated high survival rates, with mortality risk associated with clinical and sociodemographic factors. A frequent pattern of underdosing was observed, raising questions regarding therapeutic strategies. The economic analysis revealed significant differences in the relative efficiency of therapies, suggesting opportunities for price revision. The findings provide technical evidence to support decisions on technology incorporation, pricing, and resource allocation for rare diseases in the public healthcare system.