ArticleThe European journal of health economics : HEPAC : health economics in prevention and care2023
Significant healthcare burden and life cost of spinal muscular atrophy: real-world data.
Article in The European journal of health economics : HEPAC : health economics in prevention and care, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 16 citations in OpenAlex.
- Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy.Muscle & nerve · 2026Review
- The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review.Journal of advanced nursing · 2026Article
- Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts.Journal of neuromuscular diseases · 2026Review
- Economic Burden of Spinal Muscular Atrophy in Singapore: A Societal Perspective Cost-of-Illness Study.PharmacoEconomics - open · 2026Article
- Patient-reported clinical characteristics and healthcare utilization in Spinal Muscular Atrophy (SMA): a cross-sectional study from Iran.Orphanet journal of rare diseases · 2026Article
- Risdiplam Impact in Treatment Naïve and Non-Naïve Pediatric and Adult Patients With Spinal Muscular Atrophy.European journal of neurology · 2026Article
- Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.EMBO molecular medicine · 2026Article
- Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives.Health expectations : an international journal of public participation in health care and health policy · 2025Article
- Wearable Bioelectronics for Home-Based Monitoring and Treatment of Muscle Atrophy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Application of Biomarkers in Spinal Muscular Atrophy.International journal of molecular sciences · 2025Review
- Gene therapy of rare diseases as a milestone in medicine - overview of the field and report on initial experiences in Slovenia.Orphanet journal of rare diseases · 2025Review
- Review
- Healthcare Resource Utilization, Economic Burden, and Multi-Level Medical Security System for Individuals with Spinal Muscular Atrophy in Shaanxi Province, China.Healthcare (Basel, Switzerland) · 2025Article
- Pediatric Sleep Quality and Parental Stress in Neuromuscular Disorders: Descriptive Analytical Study.Asian/Pacific Island nursing journal · 2025Article
- In Search of Spinal Muscular Atrophy Disease Modifiers.International journal of molecular sciences · 2024Review
- Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.Journal of neurology · 2024Article
- Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023).International journal of neonatal screening · 2024Review
- Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy.Frontiers in neurology · 2024Review
- The socioeconomic burden of spinal muscular atrophy in Saudi Arabia: a cross-sectional pilot study.Frontiers in public health · 2024Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesThe 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.
methodsData 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.
resultsSeventy-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.
interpretationOur 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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