Objectives

The objective of our study was to conduct a systematic literature review of estimates of costs of illness of spinal muscular atrophy (SMA).

Methods

We searched MEDLINE (through PubMed), CINAHL, Embase, Web of Science, National Health Service Economic Evaluation Database, and the National Health Service Health Technology Assessment Database for studies published from inception up until 31 August, 2020, reporting direct medical, direct non-medical, and/or indirect costs of any phenotype of SMA. Two reviewers independently screened records for eligibility, extracted the data, and assessed studies for risk of bias using the Newcastle–Ottawa Scale. Costs were adjusted and converted to 2018 US dollars.

Results

The search identified 14 studies from eight countries (Australia, France, Germany, Italy, Spain, Sweden, the UK, and the USA). The mean per-patient annual direct medical cost of illness was estimated at between $3320 (SMA type III, Italy) and $324,410 (SMA type I, USA), mean per-patient annual direct non-medical cost between $25,880 (SMA types I–III, Spain) and $136,800 (SMA type I, Sweden), and mean per-patient annual indirect cost between $9440 (SMA type I, Germany) and $74,910 (SMA type II, Australia). Most studies exhibited a risk of bias.

Conclusions

The current body of evidence of costs of illness of SMA is relatively scarce and characterized by considerable variability across geographical settings and disease phenotypes. Our review provides data pertaining to the economic impact of SMA, which is of particular relevance in light of emerging treatments and ongoing research in this field, and underscores the substantial unmet medical need in this patient population.

中文翻译：

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脊髓性肌萎缩症的疾病成本：系统评价

 目标

我们研究的目的是对脊髓性肌萎缩症 (SMA) 疾病成本的估计进行系统的文献综述。

 方法

我们检索了 MEDLINE（通过 PubMed）、CINAHL、Embase、Web of Science、国家卫生服务经济评估数据库和国家卫生服务卫生技术评估数据库，查找从成立到 2020 年 8 月 31 日发表的研究，报告直接医疗、直接非-任何 SMA 表型的医疗和/或间接成本。两名评审员独立筛选记录的资格、提取数据并使用纽卡斯尔-渥太华量表评估研究的偏倚风险。成本进行调整并折算为2018年美元。

 结果

检索确定了来自 8 个国家（澳大利亚、法国、德国、意大利、西班牙、瑞典、英国和美国）的 14 项研究。每名患者的平均每年直接疾病医疗费用估计在 3320 美元（SMA III 型，意大利）到 324,410 美元（SMA I 型，美国）之间，每名患者的平均每年直接非医疗费用在 25,880 美元（SMA I 型– III 型，西班牙）和 136,800 美元（SMA I 型，瑞典），每名患者平均每年间接费用在 9440 美元（SMA I 型，德国）和 74,910 美元（SMA II 型，澳大利亚）之间。大多数研究都存在偏倚风险。

 结论

目前有关 SMA 疾病成本的证据相对匮乏，且在不同地理环境和疾病表型之间存在相当大的差异。我们的综述提供了有关 SMA 经济影响的数据，鉴于该领域的新兴治疗方法和正在进行的研究尤其重要，并强调了该患者群体中大量未得到满足的医疗需求。