ArticleNeurology and therapy2026
Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Spain, Greece, and Portugal.
Article in Neurology and therapy, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
introductionPatients with spinal muscular atrophy (SMA) may receive early treatment, ideally before symptoms present, if diagnosed through newborn screening (NBS). We aimed to evaluate the cost-effectiveness of including SMA in NBS programs in Spain, Greece, and Portugal.
methodsA cost-utility model, incorporating both a decision tree and Markov model, compared costs and health outcomes between two scenarios: including SMA in the NBS program with subsequent treatment compared with no NBS and treatment at symptom onset. A base-case analysis was conducted based on payers' perspective over a lifetime time horizon, with an annual discount rate of 3% for Spain, 3.5% for Greece, and 4% for Portugal applied to both costs and health effects. Model inputs were based on existing literature, local data, and expert panel opinion. Deterministic, probabilistic, and scenario sensitivity analyses were conducted to assess model robustness.
resultsIncluding SMA in NBS programs for Spain, Greece, and Portugal would allow early identification and treatment initiation for 97% (n = 33), 89% (n = 8), and 86% (n = 6) of patients per year in Spain, Greece, and Portugal, respectively. In the base-case analysis (lifetime time horizon), NBS for SMA resulted in significant cost savings for Spain (€32,327,624), Greece (€1,778,695), and Portugal (€4,333,014) compared with a scenario with no NBS. NBS for SMA resulted in a total of 837, 199, and 135 quality-adjusted life-years (QALYs) compared with 433, 131, and 89 QALYs without NBS, leading to a gain of 404, 68, and 46 QALYs in Spain, Greece, and Portugal, respectively. Sensitivity analyses were consistent with base-case outcomes, demonstrating the robustness of base-case findings.
conclusionIn Spain, Greece, and Portugal, implementation of NBS for early identification and treatment of patients with SMA is a cost-effective strategy for improving health outcomes and reducing total costs versus clinical diagnosis and later treatment of patients at symptom onset.
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