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Introduction: We sought to evaluate the cost-effectiveness of newborn screening (NBS) versus no NBS for 5q spinal muscular atrophy (SMA) in England. Methods: A cost-utility analysis using a combination of decision tree and Markov model structures was developed to estimate the lifetime health effects and costs of NBS for SMA, compared with no NBS, from the perspective of the National Health Service (NHS) in England. A decision tree was designed to capture NBS outcomes, and Markov modeling was used to project long-term health outcomes and costs for each patient group following diagnosis. Model inputs were based on existing literature, local data, and expert opinion. Sensitivity and scenario analyses were conducted to assess the robustness of the model and the validity of the results. Results: The introduction of NBS for SMA in England is estimated to identify approximately 56 (96% of cases) infants with SMA per year. Base-case results indicate that NBS is dominant (less costly and more effective) than a scenario without NBS, with a yearly cohort of newborns accruing incremental savings of £62,191,531 and an estimated gain in quality-adjusted life-years of 529 years over their lifetime. Deterministic and probabilistic sensitivity analyses demonstrated the robustness of the base-case results. Conclusions: NBS improves health outcomes for patients with SMA and is less costly compared with no screening; therefore, it is a cost-effective use of resources from the perspective of the NHS in England. [ABSTRACT FROM AUTHOR]

Introduction: The National Institute for Health and Care Excellence (NICE) in England has appraised three treatments for spinal muscular atrophy (SMA), namely, nusinersen, onasemnogene abeparvovec, and risdiplam. As rare disease treatments (RDTs) commonly face challenges in health technology assessment (HTA) processes due to their clinical and economic uncertainties, an in-depth review of these appraisals is useful to enable a deeper understanding of economic modeling considerations for SMA., Areas Covered: This review is a detailed analysis of NICE appraisals for SMA and aims to compare the economic modeling evidence from the three RDTs. This is done by examining differences and similarities and by discussing critical outstanding issues across the economic evaluations of the appraisals., Expert Opinion: This article aims to contribute to the development of evidence that can be used as guidance to inform resource allocation decisions for RDTs for SMA, but also to be a resource about approaches for the generation, analysis and interpretation of economic modeling evidence for RDTs more broadly.