Spinal muscular atrophy (SMA) is a rare, life-threatening, and seriously debilitating neuromuscular disorder, which has a heavy burden on patients, caregivers and the health system. Technological advances have improved clinical effect, but have also increased the financial burden. There is limited information in the literature on the resource utilization and economic burden of SMA. Our research aims to summarize the current literature on resource use, cost and economic evaluations of treatments for SMA, to inform further research and policy decision making.

Databases, including PubMed, Embase, Cochrane Library and CRD Database, were searched from inception. Two reviewers undertook title and abstract screening followed by full-text screening, and any disagreement was resolved in consensus. Data extraction was conducted using a customized form. Included studies were summarized using narrative synthesis structured around general and economic characteristics. Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were adhered to where applicable.

We reviewed 552 abstracts and included twenty-six from 2015 to 2019. Four-fifths were published in the United States and Europe. Five full economic evaluations and one budget impact analysis compared nusinersen with AVXS-101 or best supportive care, and the remaining evaluated the economic burden of SMA. The most common outcomes were healthcare resource utilization and direct medical costs, only a few studies evaluated direct non-medical costs or indirect cost.

SMA patients have significant medical expenditures and high utilization of healthcare services, including nusinersen-treated patients. The results highlight the substantial burden of treatment for SMA, not only for patients but also for their caregivers. SMA represents a significant hidden cost that society should be made aware of, and that should be considered in the design, implementation and evaluation of support programs for people who suffer from this disease and their families, as well as in the economic evaluation of new treatments.