Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy.

OBJECTIVE: To evaluate the cost-effectiveness of nusinersen with and without universal newborn screening for infantile-onset spinal muscular atrophy (SMA). STUDY DESIGN: A Markov model using data from clinical trials with US epidemiologic and cost data was developed. The primary interventions studied were nusinersen treatment in a screening setting, nusinersen treatment in a nonscreening setting, and standard care. Analysis was conducted from a societal perspective. RESULTS: Compared with no screening and no treatment, the incremental cost-effectiveness ratio (ICER) for nusinersen with screening was $330 558 per event-free life year (LY) saved, whereas the ICER for nusinersen treatment without screening was $508 481 per event-free LY saved. For nusinersen with screening to be cost-effective at a willingness-to-pay (WTP) threshold of $50 000 per event-free LY saved, the price would need to be $23 361 per dose, less than one-fifth its current price of $125 000. Preliminary data from the NURTURE trial indicated an 85.7% improvement in expected LYs saved compared with our base results. In probabilistic sensitivity analysis, nusinersen and screening was a preferred strategy 93% of the time at a $500 000 WTP threshold. CONCLUSION: Universal newborn screening for SMA provides improved economic value for payers and patients when nusinersen is available.

Death Scene Investigation and Autopsy Practices in Sudden Unexpected Infant Deaths.

OBJECTIVE: To describe and compare sudden unexpected infant death (SUID) investigations among states participating in the SUID Case Registry from 2010 through 2012. STUDY DESIGN: We analyzed observational data from 770 SUID cases identified and entered into the National Child Death Review Case Reporting System. We examined data on autopsy and death scene investigation (DSI) components, including key information about the infant sleep environment. We calculated the percentage of components that were complete, incomplete, and missing/unknown. RESULTS: Most cases (98%) had a DSI. The DSI components most frequently reported as done were the narrative description of the circumstances (90%; range, 85%-99%), and witness interviews (88%, range, 85%-98%). Critical information about 10 infant sleep environment components was available for 85% of cases for all states combined. All 770 cases had an autopsy performed. The autopsy components most frequently reported as done were histology, microbiology, and other pathology (98%; range, 94%-100%) and toxicology (97%; range, 94%-100%). CONCLUSIONS: This study serves as a baseline to understand the scope of infant death investigations in selected states. Standardized and comprehensive DSI and autopsy practices across jurisdictions and states may increase knowledge about SUID etiology and also lead to an improved understanding of the cause-specific SUID risk and protective factors. Additionally, these results demonstrate practices in the field showing what is feasible in these select states. We encourage pediatricians, forensic pathologists, and other medicolegal experts to use these findings to inform system changes and improvements in DSI and autopsy practices and SUID prevention efforts.