SynthesisOrphanet journal of rare diseases2025
Economic evaluations of disease-modifying therapies for spinal muscular atrophy: a systematic literature review.
Synthesis in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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
3 citing papers in PubMed.
- Beyond Narrative and Tabular Synthesis: Introducing an Approach-Rationale-Note (ARN) Framework for Thematic Evidence Synthesis in Economic Evaluation Reviews.PharmacoEconomics · 2026Article
- Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions.Nature reviews. Neurology · 2026Review
- Therapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations.Frontiers in pharmacology · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy (SMA) is a rare, life-limiting neuromuscular disorder characterised by progressive motor neuron degeneration. The recent emergence of disease-modifying therapies (DMTs), nusinersen, onasemnogene abeparvovec, and risdiplam, has revolutionised SMA care but presents economic challenges due to high treatment costs and limited long-term evidence.
objectiveTo review and critically appraise economic evaluations that assessed the cost-effectiveness of DMTs in people living with SMA.
methodsA systematic literature review was conducted following Cochrane and PRISMA guidelines. Initial searches were conducted in January 2024 and updated in February 2025. Searches were carried out in key biomedical and economic databases, as well as grey literature. Two reviewers independently screened the titles and abstracts of all identified records, as well as the full texts of potentially relevant studies. Data extraction and quality appraisal employed established tools, including the CHEERS and Philips checklists. The conduct and findings of included studies were summarised and discussed narratively.
resultsOf 1,984 records, 21 studies met the inclusion criteria. All studies used Markov modelling approaches, varying by SMA type, time horizon (often lifetime), and assumptions around sustained treatment benefits. Key drivers of cost-effectiveness included treatment costs, health-state utility values (frequently based on expert opinion), and survival modelling. Heterogeneity was noted in health technology definitions, utility measurement, and data sources. Limitations across studies included reliance on short-term clinical data, inconsistent assumptions, and limited of transparency in modelling practices. Sensitivity analyses were inconsistently applied, limiting robustness of the findings reported in each study.
conclusionsThe economic evaluation landscape for SMA treatments is evolving. However, challenges remain due to data gaps and methodological variability across studies. Future research should prioritise the integration of long-term real-world data into economic evaluations, consider the development of patient- and caregiver-derived utility values, and the use of transparent, standardised modelling approaches. These improvements will enhance the robustness, comparability, and policy relevance of economic evaluations in rare disease treatment funding.
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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.