Presentation (CTI)

OBJECTIVES: Spinal Muscular Atrophy (SMA) care in Brazil, guided by the National Rare Disease Policy, faces profound regional disparities. This study aimed to: 1) map the national epidemiology of SMA and specialized care infrastructure, 2) quantify the economic impact of infrastructure gaps on treatment costs, and 3) model potential savings from targeted reforms.
METHODS: A mixed-methods approach was employed. Epidemiological estimates were derived from DATASUS data (administrative national registry). Infrastructure was mapped using Ministry of Health data, identifying nine national Reference Centers. Regional drug utilization and cost data for Nusinersen and Risdiplam (2024-2025) from DATASUS were linked to facility locations via geospatial analysis to assess cost disparities.
RESULTS: Brazil has an estimated 1,300-2,500 SMA patients. Analysis revealed a direct correlation between infrastructure and economic burden. The North region, with very few Reference Centers, relied on facility-dependent Nusinersen for 72% of treatments, resulting in the nation’s highest average cost per procedure (R$296,000). In stark contrast, the Southeast, supported by five centers, achieved 81% utilization of oral Risdiplam, yielding an average cost 71% lower (R$64,300). This infrastructure gap creates a significant cost paradox: regions with the greatest need bear the highest per-treatment expenses. Nationally, substituting Nusinersen with Risdiplam where clinically appropriate could yield annual savings of approximately R$1.01 billion, with the North alone accounting for potential savings of R$95.6 million.
CONCLUSIONS: Infrastructure inequity is a primary cost driver in SMA management. The absence of Reference Centers forces reliance on high-cost therapies, converting clinical access barriers into substantial economic burdens. Policy reforms must prioritize equitable infrastructure development, including expanding Reference Center networks and standardizing protocols to facilitate oral therapy access, to improve patient outcomes and ensure the fiscal sustainability of rare disease care.