SynthesisTrials2017
A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome?
Synthesis in Trials, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers, 4 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
56 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Global insight into rare disease and orphan drug definitions: a systematic literature review.BMJ open · 2025Pooled it
- The use of digital outcome measures in clinical trials in rare neurological diseases: a systematic literature review.Orphanet journal of rare diseases · 2023Pooled it
- Systematic review of sample size calculations and reporting in randomized controlled trials in ophthalmology over a 20-year period.International ophthalmology · 2023Pooled it
- Therapeutic options for patients with rare rheumatic diseases: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2020Pooled it
- Trial
- Article
- Patient-governed agentic health data exchange.npj health systems · 2026Review
- Proposal of an Algorithm for the Clinical and Molecular Diagnosis of RASopathies Based on HPO Nomenclature.International journal of molecular sciences · 2026Article
- Vulnerability, protection and fairness: ethical and regulatory limits in small-N gene therapy trials.Trials · 2026Article
- Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.BMC global and public health · 2026Review
- Consensus for the most suitable trial design to assess therapy for rare vascular malformations: a Delphi study.Scientific reports · 2026Article
- Does randomization matter in rare disease clinical trials.PloS one · 2026Article
- Utility of 3D facial analysis as a biomarker in rare diseases exploration with hereditary angioedema.Frontiers in medical technology · 2026Article
- From Variant Interpretation to Biomarker Translation: Multi-omics Integration in Inherited Neuromuscular Diseases.Human mutation · 2026Review
- Inherited metabolic epilepsies-established diseases, new approaches.Epilepsia open · 2024Review
- 3D-cell phantom-experimental setup to assess thermal effects and cell viability of lung tumor cells after electroporation.Scientific reports · 2024Article
- Article
- Diet and Nutrients in Rare Neurological Disorders: Biological, Biochemical, and Pathophysiological Evidence.Nutrients · 2024Review
- Priorities and barriers for research related to primary ciliary dyskinesia.ERJ open research · 2024Article
- Recent landscape and trends for industry-sponsored pediatric clinical trials in China from 2013 to 2022.Pediatric investigation · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
Abstract
backgroundEvidence-based clinical practice is challenging in all fields, but poses special barriers in the field of rare diseases. The present paper summarises the main barriers faced by clinical research in rare diseases, and highlights opportunities for improvement.
methodsSystematic literature searches without meta-analyses and internal European Clinical Research Infrastructure Network (ECRIN) communications during face-to-face meetings and telephone conferences from 2013 to 2017 within the context of the ECRIN Integrating Activity (ECRIN-IA) project.
resultsBarriers specific to rare diseases comprise the difficulty to recruit participants because of rarity, scattering of patients, limited knowledge on natural history of diseases, difficulties to achieve accurate diagnosis and identify patients in health information systems, and difficulties choosing clinically relevant outcomes.
conclusionsEvidence-based clinical practice for rare diseases should start by collecting clinical data in databases and registries; defining measurable patient-centred outcomes; and selecting appropriate study designs adapted to small study populations. Rare diseases constitute one of the most paradigmatic fields in which multi-stakeholder engagement, especially from patients, is needed for success. Clinical research infrastructures and expertise networks offer opportunities for establishing evidence-based clinical practice within rare diseases.
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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.