Cost-utility analysis of newborn screening for spinal muscular atrophy in Japan.

Aims: Spinal muscular atrophy (SMA) is a rare genetic disorder characterized by progressive muscle weakness, atrophy, respiratory failure, and in severe cases, infantile death. Early detection and treatment before symptom onset may substantially improve outcomes, allowing patients to achieve age-appropriate motor milestones and longer survival. We assessed the cost-utility of newborn screening (NBS) for SMA in Japan.

Materials and methods: A cost-utility model (decision tree and Markov model) compared lifetime health effects and costs between "NBS" for SMA (presymptomatic treatment) or "no NBS" (treatment initiated at symptom onset). Model inputs were sourced from literature, local data, and expert opinion. Sensitivity and scenario analyses were conducted to assess model robustness and data validity.

Results: Based on the 1:10,000 SMA incidence, it was estimated that 43 newborns/year would have SMA, and a total of 39 patients with SMA would initiate presymptomatic treatment after NBS. An estimated 736 quality-adjusted life-years were gained per annual birth cohort with NBS. NBS for SMA was dominant compared with no NBS (i.e. less costly and more effective), with ¥8,856,960,096 reduced total costs with NBS versus no NBS (base-case). Sensitivity and scenario analyses supported cost effectiveness of NBS for SMA versus no NBS. A greater percentage of patients was estimated to enjoy longer survival and be without permanent assisted ventilation with NBS versus no NBS.

Limitations: Real-world observations may differ from single-arm clinical trial outcomes. It was assumed that patients with SMA identified via NBS were asymptomatic and would receive treatment prior to symptoms. Best supportive care was not considered, and Japan-specific variations in gene replacement therapy protocol were not fully reflected.

Conclusion: NBS for SMA allows for early identification of patients with SMA and treatment initiation before symptom onset, improving health outcomes and reducing total costs than without NBS.