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Significant healthcare burden and life cost of spinal muscular atrophy: real-world data
Sophelia H S Chan1, Carlos K H Wong2,3, Tingting Wu4
1Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China. sophehs@hku.hk.
Insights
Pediatric spinal muscular atrophy (SMA) significantly increases mortality and healthcare costs, particularly for types 1 and 2. Early intervention is crucial to mitigate the substantial health and economic burden of SMA.
Area of Science:
- Pediatric Neurology
- Health Economics
- Rare Diseases
Background:
- Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disorder affecting motor neurons.
- Pediatric SMA, particularly types 1 and 2, is associated with high mortality and significant lifelong healthcare needs.
- Understanding the economic and survival impact of SMA is critical for resource allocation and treatment strategy development.
Purpose of the Study:
- To quantify mortality rates and direct healthcare costs for pediatric patients with SMA types 1, 2, and 3 in Hong Kong.
- To analyze cumulative life costs associated with SMA across different disease severities.
- To establish the economic and survival burden of SMA in a defined population.
Main Methods:
- Retrospective analysis of genetically confirmed SMA patients born in Hong Kong from 2000 onwards.
- Data sourced from the Hospital Authority medical database, with follow-up until death, emigration, age 18, or treatment initiation.
- Outcomes included mortality incidence, direct medical costs (outpatient, ED, allied health, hospital stays), and cost calculations based on utilization and unit costs.
Main Results:
- Seventy-one SMA patients were analyzed over a median 6-year follow-up.
- Overall mortality incidence was 5.422/100 person-years, with 67.7% and 11% of deaths in SMA type 1 and type 2, respectively.
- Mean cumulative direct medical costs per patient were substantial: US$935,570 (overall), US$2,393,250 (SMA1), US$413,165 (SMA2), and US$40,735 (SMA3).
Conclusions:
- SMA, especially types 1 and 2, presents a significantly elevated mortality risk and an extremely high healthcare burden in the absence of disease-modifying treatments.
- The findings underscore the critical need for studies evaluating the health and economic impact of newborn screening and early therapeutic interventions for SMA.
- This study highlights the profound impact of SMA on pediatric patients and the healthcare system, emphasizing the value of early diagnosis and treatment.
Objectives:
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.
Methods:
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.
Results:
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.
Interpretation:
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.
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