ReviewOrphanet journal of rare diseases2023
A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance.
Review in Orphanet journal of rare diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis 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
52 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- Toward Precision Oral Medicine in Pemphigus Vulgaris: A Conceptual AI Framework for Rituximab Response Prediction.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Awareness and perceptions of patient and public involvement in rare disease research in Japan: the role of patient advocacy groups and family members.Research involvement and engagement · 2026Article
- Deciding "what" to screen for and "when": The importance of natural history information.American journal of human genetics · 2026Review
- Systematic mapping of rare genetic disease studies using UK primary care electronic health records.European journal of human genetics : EJHG · 2026Review
- Exploring barriers to clinical trial readiness among the myotonic dystrophy community: a mixed-methods study.Orphanet journal of rare diseases · 2026Article
- Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.BMC global and public health · 2026Review
- Review
- Development of the first myasthenia gravis patient registry in Latvia: a single-centre experience.Scientific reports · 2026Article
- An open access trauma registry for developing countries: a tested selected minimal dataset with its free database program.World journal of emergency surgery : WJES · 2026Article
- Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?Journal of neuromuscular diseases · 2026Review
- Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026Article
- Global research status and trends in macrodactyly research: Bibliometric and visualized analysis from 2005 to 2025.Medicine · 2026Article
- The landscape of 605 genetically confirmed distinct rare diseases in a single center in Mexico (2005-2025).Orphanet journal of rare diseases · 2026Article
- How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC).Journal of medical genetics · 2026Article
- Access to lymphangioleiomyomatosis care across Europe: an ERN-LUNG survey of clinical practice, and the case for a European registry and trial network.ERJ open research · 2026Article
- A weakly supervised transformer for rare disease diagnosis and subphenotyping from EHRs with pulmonary case studies.NPJ digital medicine · 2026Article
- Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop.Epilepsia · 2026Review
- Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026Article
- Enhancing medical care for aniridia through a public health lens: a scoping review of organizational models, patient management, and quality of life assessment.Frontiers in public health · 2026Article
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through registries, adequate design and maintenance are integral to data quality. We aimed to describe an overview of the challenges in design, quality management, and maintenance of rare disease registries.A systematic search of English articles was conducted in PubMed, Ovid Medline/Embase, and Cochrane Library. Search terms included "rare diseases, patient registries, common data elements, quality, hospital information systems, and datasets". Inclusion criteria were any manuscript type focused upon rare disease patient registries describing design, quality monitoring or maintenance. Biobanks and drug surveillances were excluded.A total of 37 articles, published between 2001 and 2021, met the inclusion criteria. Patient registries covered a wide range of disease areas and covered multiple geographical locations, with a predisposition for Europe. Most articles were methodological reports and described the design and setup of a registry. Most registries recruited clinical patients (92%) with informed consent (81%) and protected the collected data (76%). Whilst the majority (57%) collected patient-reported outcome measures, only few (38%) consulted PAGs during the registry design process. Few reports described details regarding quality management (51%) and maintenance (46%).Rare disease patient registries are valuable for research and evaluation of clinical care, and an increasing number have emerged. However, registries need to be continuously evaluated for data quality and long-term sustainability to remain relevant for future use.
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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.