ArticleBMC medical research methodology2026
Enhancing rare disease guideline development with real-world data: a method evaluation.
Article in BMC medical research methodology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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
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
2 citing papers in PubMed.
- Fostering continuous quality improvement in a European rare disease network: Where are we now?Orphanet journal of rare diseases · 2026Review
- ERNICA evidence based guideline on omphalocele.Orphanet journal of rare diseases · 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
8 authors.
Funding
Abstract
backgroundReal-world data collection can contribute to quality improvement for rare diseases in several ways.
objectivesTo evaluate a method developed to integrate real-world evidence in guidelines addressing rare diseases (REGARD).
methodsA guideline on omphalocele was developed following the GIN-McMaster Guidelines 2.0 checklist. After the guideline panel selected clinical questions, systematic literature searches were performed. When published evidence was scarce, REGARD was introduced. Data from the European Pediatric Surgical Audit (EPSA) patient registry was provided to clinical experts after which they noted their observations of treatment effect in structured observation forms (SOFs). Feasibility, added value and acceptability of REGARD were evaluated using a cross-sectional study design.
resultsEPSA data were available for seven of the twelve clinical questions selected for this guideline (58%). In 4/7 clinical questions (57%), REGARD contributed to the panels’ decision on a recommendation. Reasons to disregard the supplementary evidence during the formation of a recommendation were: uncertainty about the validity of the observations due to small sample sizes and doubt about the association between the observed outcomes and the intervention because the registry data lacked information on the clinical indication for a chosen treatment.
conclusionsThis study evaluates a method to connect real-world data collection to guideline development in rare diseases, highlighting both the challenges and benefits this method has to offer. Although the methodology requires refinement and the EPSA registry must be optimized, we believe it holds significant promise as a tool for developing guidelines for rare diseases.
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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.