ArticleOrphanet journal of rare diseases2024
Real-world evidence for coverage determination of treatments for rare diseases.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 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
11 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Mapping the landscape of managed entry agreements: a systematic review of global frameworks, system-level components, and implementation challenges.Frontiers in pharmacology · 2026Pooled it
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- Setmelanotide in Bardet-Biedl Syndrome: A 52-Week Comparison of Phase 3 Trial Participants With a Matched Registry Cohort.Obesity (Silver Spring, Md.) · 2026Trial
- Waiting for Trial Evidence or Using Real-World Evidence: Trade-Offs for Coverage with Evidence Development.PharmacoEconomics · 2026Review
- A toolkit for new facioscapulohumeral muscular dystrophy trial sites.Journal of neuromuscular diseases · 2026Review
- Use of Real-World Evidence in Health Technology Assessments of Non-Oncology Rare Disease Therapies.Journal of market access & health policy · 2026Article
- Therapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations.Frontiers in pharmacology · 2026Review
- Comparative Clinical Outcomes of Nusinersen and Gene Therapy in Spinal Muscular Atrophy Type 1.JAMA network open · 2025Article
- Importance of Health Economics and Outcomes Research in the Product Lifecycle.Pharmaceutical medicine · 2025Review
- Real-world evidence in spinal muscular atrophy: addressing heterogeneity of populations and treatment comparisons.The Lancet regional health. Europe · 2025Article
- Onasemnogene Abeparvovec Gene Therapy and Risdiplam for the Treatment of Spinal Muscular Atrophy in Thailand: A Cost-Utility Analysis.Applied health economics and health policy · 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
13 authors.
Funding
Abstract
Health technology assessment (HTA) decisions for pharmaceuticals are complex and evolving. New rare disease treatments are often approved more quickly through accelerated approval schemes, creating more uncertainties about clinical evidence and budget impact at the time of market entry. The use of real-world evidence (RWE), including early coverage with evidence development, has been suggested as a means to support HTA decisions for rare disease treatments. However, the collection and use of RWE poses substantial challenges. These challenges are compounded when considered in the context of treatments for rare diseases. In this paper, we describe the methodological challenges to developing and using prospective and retrospective RWE for HTA decisions, for rare diseases in particular. We focus attention on key elements of study design and analyses, including patient selection and recruitment, appropriate adjustment for confounding and other sources of bias, outcome selection, and data quality monitoring. We conclude by offering suggestions to help address some of the most vexing challenges. The role of RWE in coverage and pricing determination will grow. It is, therefore, necessary for researchers, manufacturers, HTA agencies, and payers to ensure that rigorous and appropriate scientific principles are followed when using RWE as part of decision-making.
Indexed as
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What OpenQuestion holds
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.