OBJECTIVES: Spinal muscular atrophy (SMA) is a rare and fatal genetic disorder marked by progressive muscle degeneration. Early detection of SMA through newborn screening (NBS) enables pre-symptomatic treatment, which is expected to improve patient outcomes and save medical resources, making its cost-utility analysis (CUA) essential. This study aimed to summarize the methods and data resources by systematically reviewing the CUA studies of NBS for SMA.

METHODS: A literature search was performed in PubMed, Embase and Cochrane Library databases in March 20^th 2024, and relevant studies were selected based on pre-defined inclusion/exclusion criteria. The screening process adhered to the PRISMA guidelines. Data on modeling approach, health states, perspective, efficacy data, utility and cost were extracted. The risk of bias was assessed according to the CHEERS guidelines.

RESULTS: Among the 77 studies screened, five CUA studies were ultimately included. Each study was conducted in a different country and published after 2020. Three studies employed a decision tree plus Markov model, while two studies utilized a Markov model. The key health states were permanent ventilation, not sitting, sitting, walking and death. All studies included treatments for SMA after diagnosis. Two studies included three treatments (Nusinersen, Onasemnogene abeparvovec, Risdiplam), two included two treatments (Nuisnersen, Onasemnogene aveparvovec) and one included only nusinersen. The perspectives were societal or payer. Three studies applied a lifetime time horizon, while the rest used 30 months and 5 years. Efficacy data of treatments were derived from real-world or clinical trials. Costs were mainly sourced from local studies, while utility values for four studies from published literature or clinical trials, with only one directly measuring them. The reporting quality of studies is valid from 82% to 93% (median 86%).

CONCLUSIONS: The findings from this study can provide reliable data inputs for future cost-utility analysis studies evaluating newborn screening for SMA.