The objective of the study was to assess the cost-effectiveness of real-world spinal muscular atrophy newborn screening followed by treatment. We modeled the lifetime cost-effectiveness of the spinal muscular atrophy newborn screening followed by treatment (screening) compared to treatment without screening (no screening) from the Belgian healthcare perspective. Real-world data, including quality of life, costs, and motor development data, were collected on 12 patients identified by screening and 43 patients identified by their symptoms. “Screening” was associated with slightly higher healthcare costs (€ 6,858,061 vs. € 6,738,120) but more quality-adjusted life years (QALY) (40.95 vs. 20.34) compared to “no screening”, leading to an incremental cost-effectiveness ratio of € 5,820 per QALY gained. “Screening” was dominant from a societal perspective (negative incremental costs: € -14,457; incremental QALY = 20.61), when incorporating the burden on caregivers (negative incremental costs = € -74,353; incremental QALY = 27.51), and when the treatment was chosen by the parents (negative incremental costs = € -2,596,748; incremental QALY = 20.61). Spinal muscular atrophy newborn screening coupled with early treatment is thus cost-effective compared with late treatment following clinical diagnosis and is dominant when societal perspective, caregiver burden, and treatment based on parental preference were considered.

中文翻译：

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基于比利时真实数据的脊髓性肌萎缩症新生儿筛查的成本效益

该研究的目的是评估现实世界中脊髓性肌萎缩症新生儿筛查和治疗的成本效益。我们从比利时医疗保健的角度对脊髓性肌萎缩症新生儿筛查和治疗（筛查）与不进行筛查（无筛查）的治疗的终生成本效益进行了建模。收集了 12 名通过筛查确定的患者和 43 名通过症状确定的患者的真实世界数据，包括生活质量、费用和运动发育数据。与“不筛查”相比，“筛查”的医疗费用略高（6,858,061 欧元 vs. 6,738,120 欧元），但质量调整生命年 (QALY) 更高（40.95 vs. 20.34），从而导致成本效益比增加每获得 QALY 即可获得 5,820 欧元。从社会角度来看，当考虑到护理人员的负担（负增量成本 = € -74,353；增量 QALY = 27.51）以及治疗时，“筛查”占主导地位（负增量成本：€ -14,457；增量 QALY = 20.61）。由家长选择（负增量成本 = € -2,596,748；增量 QALY = 20.61）。因此，与临床诊断后的晚期治疗相比，脊髓性肌萎缩症新生儿筛查结合早期治疗具有成本效益，并且在考虑社会观点、护理人员负担和基于父母偏好的治疗时占主导地位。