Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Paediatrics, University Hospital Liege & University of Liege, Belgium.
Department of Health Services Research, Care and Public Health Research Institute, Maastricht University, Maastricht, the Netherlands.
Dev Med Child Neurol. 2023 Jan;65(1):67-77. doi: 10.1111/dmcn.15286. Epub 2022 Jun 8.
To compare the societal financial costs and quality of life (QoL) of untreated patients with spinal muscular atrophy (SMA) and treated patients identified because they presented symptoms or were identified by early testing (sibling or newborn screening).
Data from two different sources were used: data collected prospectively in untreated patients from 2016 to 2018 and data collected during a prospective follow-up study from 2018 to 2021. Patients or their caregiver completed a questionnaire that included questions on direct medical and non-medical costs, indirect non-medical costs, and health-related QoL.
Data (median; range) were available for 149 patients (93 untreated - 10 years; 2 years-59 years), 42 patients (6 years 3 months; 9 months-58 years) treated after presenting with symptoms, and 14 patients (1 year 7 months; 5 months-2 years) treated after early diagnosis. Total costs were lower in untreated patients due to the high cost of drugs used in treated patients. Costs were lower for treated patients who were identified by early testing than for treated patients identified because they presented with symptoms. In all groups, patients with two SMN2 copies had higher costs than those with more copies.
Early patient identification and treatment offer the opportunity to reduce the total societal costs of SMA where treatments are available for presymptomatic and postsymptomatic patients.
Untreated patients with spinal muscular atrophy had lower total financial costs than treated patients. Total financial costs were lower for treated patients identified by early screening than for treated patients identified after symptom onset. Direct financial costs excluding treatment were much lower in treated patients identified by early screening. Hospitalization costs were much lower in patients identified by early screening.
比较未经治疗的脊髓性肌萎缩症（SMA）患者与因出现症状或通过早期检测（同胞或新生儿筛查）而被识别的治疗患者的社会经济成本和生活质量（QoL）。
使用了两种不同来源的数据：2016 年至 2018 年期间对未经治疗的患者进行前瞻性收集的数据，以及 2018 年至 2021 年期间进行前瞻性随访研究的数据。患者或其照顾者完成了一份问卷，其中包括直接医疗和非医疗费用、间接非医疗费用以及与健康相关的 QoL 问题。
共有 149 名患者（93 名未经治疗-10 岁；2-59 岁）、42 名出现症状后接受治疗的患者（6 岁 3 个月；9 个月-58 岁）和 14 名接受早期诊断后接受治疗的患者（1 岁 7 个月；5 个月-2 岁）的数据（中位数；范围）可用。由于治疗患者使用的药物费用高昂，未经治疗的患者的总费用较低。通过早期检测识别的治疗患者的成本低于因出现症状而识别的治疗患者。在所有组中，携带两个 SMN2 拷贝的患者的成本高于携带更多拷贝的患者。
早期发现患者并进行治疗为 SMA 提供了机会，可以降低治疗可用于症状前和症状后患者的社会总成本。
未经治疗的脊髓性肌萎缩症患者的总经济成本低于治疗患者。通过早期筛查识别的治疗患者的总经济成本低于出现症状后识别的治疗患者。通过早期筛查识别的治疗患者的直接医疗费用（不包括治疗费用）要低得多。通过早期筛查识别的患者的住院费用要低得多。
