ArticleOrphanet journal of rare diseases2017
Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 9 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
75 citing papers in PubMed, 9 syntheses or guidelines pooled it, 127 citations in OpenAlex.
- Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.PharmacoEconomics · 2023Pooled it
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Parents as informal caregivers of children and adolescents with spinal muscular atrophy: a systematic review of quantitative and qualitative data on the psychosocial situation, caregiver burden, and family needs.Orphanet journal of rare diseases · 2022Pooled it
- Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy.Advances in therapy · 2022Pooled it
- Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers.PharmacoEconomics · 2022Pooled it
- Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management.PharmacoEconomics · 2022Pooled it
- Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.Applied health economics and health policy · 2021Pooled it
- Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.Orphanet journal of rare diseases · 2021Pooled it
- Effects of ATLAS 2030 gait exoskeleton on strength and range of motion in children with spinal muscular atrophy II: a case series.Journal of neuroengineering and rehabilitation · 2022Trial
- Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy.Journal of neuromuscular diseases · 2021Trial
- Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy.Pediatric pulmonology · 2019Trial
- Cost-effectiveness of a connected injection device for daily somatropin therapy in pediatric growth hormone deficiency in Spain: a scenario-based microsimulation analysis using real-world data.Journal of comparative effectiveness research · 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
- Cost-Effectiveness and Public Health Impact of Newborn Screening for Spinal Muscular Atrophy in France.Applied health economics and health policy · 2026Article
- Approaches used to model patient and carer health-related quality of life in economic models of rare disease treatments in NICE appraisals.Health and quality of life outcomes · 2026Review
- Mapping the patient journey of adult patients with Spinal Muscular Atrophy in Greece: key challenges and priorities for action.Orphanet journal of rare diseases · 2026Article
- Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation.International journal of neonatal screening · 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
- Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers.Annals of clinical and translational neurology · 2025Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe aim of this study was to determine the economic burden and health-related quality of life (HRQOL) of patients with Spinal Muscular Atrophy (SMA) and their caregivers in Spain.
methodsThis was a cross-sectional and retrospective study of patients diagnosed with SMA in Spain. We adopted a bottom up, prevalence approach design to study patients with SMA. The patient's caregivers completed an anonymous questionnaire regarding their socio-demographic characteristics, use of healthcare services and non-healthcare services. Costs were estimated from a societal perspective (including healthcare costs and non-healthcare costs), and health-related quality of life (HRQOL) was assessed using the EQ-5D questionnaire. The main caregivers also answered a questionnaire on their characteristics and on their HRQOL.
resultsA total of 81 caregivers of patients with different subtypes of SMA completed the questionnaire. Based on the reference unitary prices for 2014, the average annual costs per patient were € 33,721. Direct healthcare costs were € 10,882 (representing around 32.3% of the total cost) and the direct non-healthcare costs were € 22,839 (67.7% of the total cost). The mean EQ-5D social tariff score for patients was 0.16, and the mean score of the EQ-5D visual analogue scale was 54. The mean EQ-5D social tariff score for caregivers was 0.49 and their mean score on the EQ-5D visual analogue scale was 69.
conclusionThe results highlight the burden that SMA has in terms of costs and decreased HRQOL, not only for patients but also for their caregivers. In particular, the substantial social/economic burden is mostly attributable to the high direct non-healthcare costs.
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Registered trials
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