Huey-Fen Chen, MHA

Newborn screening combined with treatment can be extremely effective in diagnosing and treating children with rare pediatric disorders before symptoms are present, saving lives and improving long-term health outcomes. Spinal muscular atrophy (SMA), a rare pediatric disorder, was recommended for national screening in the United States in July 2018. However, the high cost of the only available drug treatment (nusinersen) and a potential future gene therapy (onasemnogene abeparvovec-xioi) raises the question of whether newborn screening for SMA will be economically attractive while maximizing patient benefits. The objective of this study is to evaluate the cost-effectiveness and budget impact of newborn screening and treatment for SMA in the United States. This study will use decision analysis and simulation modeling: A state-transition model will be developed to simulate the progression of newborns with SMA, and different intervention strategies of newborn screening and treatment of SMA will be evaluated. Utilizing a modeling approach as a form of evidence synthesis is an important approach for leveraging the scarce data available for rare pediatric disorders. The results of this study will provide crucial information for public and private health plan decision makers. In particular, results from the budget impact analysis will provide information for states that are planning or in the process of implementing newborn screening for SMA. In addition, the model developed will also serve as a reference for other countries considering newborn screening and treatment of SMA and for related policy or drug reimbursement decisions, and it could be modified for other countries to conduct an analysis using their local data.