Cost-Effectiveness of Universal Newborn Screening for Spinal Muscular Atrophy With Disease-Modifying Therapies in Taiwan

OBJECTIVES: Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, results in progressive muscle weakness and atrophy. Recommending newborn screening (NBS) for SMA and presymptomatic initiation of treatment for better outcomes has gained significance. Nevertheless, there was still a lack of evidence of the effect of NBS and substantial expenses associated with new disease-modifying therapies (DMTs) in Taiwan. This study aims to evaluate the cost-effectiveness of universal NBS and DMT treatment for SMA in Taiwan.

METHODS: We conducted the lifetime decision tree and Markov cohort using payer and societal perspectives in Taiwan. The targeted population was hypothetical SMA newborns. Seven strategies of the combination of NBS and DMTs were compared, including: (1)NBS/Nusinersen (2)NBS/Onasemnogene abeparvovec (3)NBS/Risdiplam (4)Clinical identification (CI)/Nusinersen (5)CI/Onasemnogene abeparvovec (6)CI/Risdiplam (7)CI/Supportive care. The cycle length was one year. Five health state transitions were considered, including non-sitter, sitting-alone, walking-alone, permanent ventilation, and death. Incremental costs and quality-adjusted life years (QALYs) were measured for each strategy. The discounted rate was set at 3.5%. TreeAge Healthcare Pro 2023 R2 version was used for the analysis.

RESULTS: Compared to CI/Supportive care, NBS strategies with early DMT treatment had higher incremental QALYs and costs. The lifetime incremental cost-effectiveness ratio (ICER) for NBS with Nusinersen, Onasemnogene abeparvovec, and Risdiplam were $222,810/QALY, $64,824/QALY, and $209,685/QALY, respectively, from a societal perspective. Moreover, NBS/Onasemnogene abeparvovec would be considered cost-effective at a willingness-to-pay (WTP) threshold of 2 Taiwanese Gross Domestic Product.

CONCLUSIONS: Newborn screening for SMA and early treatment by Onasemnogene abeparvovec improve health outcomes and would be cost-effective.