OBJECTIVES: SMA is a neurodegenerative disease caused by SMN1 gene deletion/mutation, and disease severity (SMA type) is inversely related to SMN2 gene copy number. Untreated SMA is the leading genetic cause of death in children under 2 years of age and early detection through newborn screening (NBS) allows for presymptomatic diagnosis and treatment of SMA. With effective treatments available and reimbursed by the National Health Service (SSN), many regions in Italy are implementing NBS. We evaluated the cost effectiveness of universal NBS for SMA in Italy.

METHODS: A decision-analytic model was built to assess the cost effectiveness of NBS in a cohort of 400,000 newborns from the SSN perspective. NBS that enables early identification and presymptomatic treatment of SMA patients was compared with a scenario without NBS, with symptomatic diagnosis and treatment of SMA patients. Transition probabilities between health states were estimated from clinical trial data (NURTURE, RAINBOWFISH, SPR1NT for patients treated presymptomatically). Higher functioning health states were associated with increased survival, higher utility values, and lower costs. Long-term survival was extrapolated from data found in scientific literature. Utilities were obtained from SMA literature. Health care costs were collected from official Italian sources. A lifetime time horizon was applied, and costs and outcomes were discounted at an annual rate of 3%. A probabilistic sensitivity analysis was conducted.

RESULTS: NBS followed by presymptomatic treatment resulted in 318 life years gained, 386 quality-adjusted life years gained, and incremental costs of –€143,167 over a lifetime time horizon. Thus, NBS was less costly and more effective than a scenario without NBS. The NBS strategy has a 100% probability of being cost-effective assuming a willingness-to-pay of >€40,000.

CONCLUSIONS: Our analysis demonstrated that NBS followed by presymptomatic SMA treatment is good value for money and cost-effective from the Italian National Health Service perspective.