Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Department of Pharmacology and Pharmacy, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Eur J Health Econ. 2023 Nov;24(8):1373-1382. doi: 10.1007/s10198-022-01548-5. Epub 2022 Nov 20.
The aim of this study is to quantify the mortality rate, direct healthcare costs, and cumulative life costs of pediatric patients with spinal muscular atrophy (SMA) type 1, type 2, and type 3 born in Hong Kong.
Data were collected from genetically confirmed SMA patients born in or after 2000 from the Hospital Authority medical database. Patients were followed up from birth until they died, left Hong Kong, reached 18 years, or initiated disease-modifying treatment. Study outcomes included incidence risks of mortality, cumulative direct medical costs-attendances of special outpatient clinics, emergency department, allied health services, and mean length of stay in hospitals over time. Total direct medical costs were calculated as unit costs multiplied by utilization frequencies of corresponding healthcare services at each age.
Seventy-one patients with SMA were included. Over a median follow-up period of 6 years, the overall incidence rate of death was 5.422/100 person-years (95%CI 3.542-7.945/100 person-years). 67.7% and 11% of deaths occurred in SMA1 and SMA2 groups, respectively. The median age of death was 0.8 years in SMA1 and 10.9 years in SMA2. The mean cumulative direct medical costs in overall SMA, SMA1, SMA2 and SMA3 groups per patient were US$935,570, US$2,393,250, US$413,165, and US$40,735, respectively.
Our results confirmed a significantly raised mortality and extremely high healthcare burden for patients with SMA especially SMA type 1 and 2 without disease-modifying treatment. Study evaluating health and economic impact of newborn screening and early treatment is needed.
本研究旨在量化香港出生的脊髓性肌萎缩症（SMA）1 型、2 型和 3 型患儿的死亡率、直接医疗成本和累积生命成本。
数据来自医院管理局医疗数据库中经基因确认的 2000 年后出生的 SMA 患儿。从患儿出生起至死亡、离开香港、年满 18 岁或开始接受疾病修正治疗时进行随访。研究结果包括死亡率的发病风险、累积直接医疗成本-随时间推移特殊门诊、急诊、辅助医疗服务的就诊次数以及住院平均时长。总直接医疗成本为单位成本乘以各年龄段相应医疗服务的使用频率。
共纳入 71 例 SMA 患儿。中位随访 6 年后，总的死亡率为 5.422/100 人年（95%CI 3.542-7.945/100 人年）。SMA1 和 SMA2 组分别有 67.7%和 11%的患儿死亡。SMA1 组患儿的中位死亡年龄为 0.8 岁，SMA2 组为 10.9 岁。SMA 患儿的平均累积直接医疗成本为每位患者 935570 美元、2393250 美元、413165 美元和 40735 美元。
本研究结果证实，无疾病修正治疗的 SMA 患儿特别是 SMA 1 型和 2 型患儿的死亡率显著升高，医疗负担极高。需要开展评估新生儿筛查和早期治疗对健康和经济影响的研究。
