SynthesisOrphanet journal of rare diseases2021
Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.
Synthesis in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 10 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
59 citing papers in PubMed, 10 syntheses or guidelines pooled it, 97 citations in OpenAlex.
- Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review.Orphanet journal of rare diseases · 2025Pooled it
- Systematic review for economic evaluations on newborn screening for spinal muscular atrophy.Journal of neuromuscular diseases · 2025Pooled it
- Combination therapies in spinal muscular atrophy: a systematic review.European journal of pediatrics · 2025Pooled it
- Cost-effectiveness of an intraoperative antibacterial envelope in preventing cardiac implantable device-associated infections: a systematic review.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2025Pooled it
- Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.Genes · 2023Pooled it
- Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy.Advances in therapy · 2022Pooled it
- Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management.PharmacoEconomics · 2022Pooled it
- Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA).PharmacoEconomics · 2022Pooled it
- Nusinersen in Adults with 5q Spinal Muscular Atrophy: a Systematic Review and Meta-analysis.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Pooled it
- Pooled it
- Parfitian Priority, Gene Therapy, and Disability.The Journal of medicine and philosophy · 2026Article
- Economic Burden of Spinal Muscular Atrophy in Singapore: A Societal Perspective Cost-of-Illness Study.PharmacoEconomics - open · 2026Article
- Medical Absenteeism and Premature Death in Spinal Muscular Atrophy in Sweden: A Population-Based Matched Register Study of People of Working Age.Advances in therapy · 2026Article
- Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy.The European journal of health economics : HEPAC : health economics in prevention and care · 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
- Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.Therapeutic advances in neurological disorders · 2026Review
- From nanoscale to clinic: The growing impact of nanotechnology in translational drug delivery.ADMET & DMPK · 2026Review
- Preventing spinal muscular atrophy through the national premarital screening program in Türkiye: an economic comparison with treatment costs.Turkish journal of medical sciences · 2026Article
- Patient and caregiver spinal muscular atrophy treatment attribute preferences in Latin America.Journal of neuromuscular diseases · 2025Article
- Pioneering SMA therapies for all types: survival gains, cost dynamics, and performance-based agreements.Cost effectiveness and resource allocation : C/E · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy (SMA) is a rare and devastating condition for which new disease-modifying treatments have recently been approved. Given the increasing importance of economic considerations in healthcare decision-making, this review summarizes the studies assessing the cost of SMA and economic evaluations of treatments. A systematic review of the literature in PubMed and Scopus up to 15 September 2020 was conducted according to PRISMA guidelines.
resultsNine studies reporting the annual cost of care of patients with SMA and six evaluations of the cost-effectiveness of SMA treatments were identified. The average annual cost of SMA1, the most frequent and severe form in which symptoms appear before the age of 6 months were similar according to the different studies, ranged from $75,047 to $196,429 per year. The yearly costs for the forms of the later-onset form, called SMA2, SMA3, and SMA4, which were usually pooled in estimates of healthcare costs, were more variable, ranging from $27,157 to $82,474. The evaluations of cost-effectiveness of treatment compared nusinersen treatment against standard of care (n = 3), two treatments (nusinersen and onasemnogene abeparvovec) against each other and no drug treatment (n = 1), nusinersen versus onasemnogene abeparvovec (n = 1), and standard of care versus nusinersen with and without newborn screening (n = 1). The incremental cost-effectiveness ratio (ICER) of nusinersen compared to standard of care in SMA1 ranged from $210,095 to $1,150,455 per quality-adjusted life years (QALY) gained and that for onasemnogene abeparvovec ranged from $32,464 to $251,403. For pre-symptomatic patients, the ICER value ranged from $206,409 to $735,519. The ICERs for later-onset forms of SMA (2, 3 and 4) were more diverse ranging from $275,943 to $8,438,049.
conclusionThis review confirms the substantial cost burden of standard of care for SMA patients and the high cost-effectiveness ratios of the approved drugs at the current price when delivered in post-symptomatic patients. Since few studies have been conducted so far, there is a need for further prospective and independent economic studies in pre- and post-symptomatic patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.