ArticleInternational journal of environmental research and public health2018
Recommendations for Improving the Quality of Rare Disease Registries.
Article in International journal of environmental research and public health, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 98 papers, 3 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
98 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Data quality and patient characteristics in European ANCA-associated vasculitis registries: data retrieval by federated querying.Annals of the rheumatic diseases · 2024Pooled it
- The Minimum Data Set for Rare Diseases: Systematic Review.Journal of medical Internet research · 2023Pooled it
- Development of a framework to assess the quality of data sources in healthcare settings.Journal of the American Medical Informatics Association : JAMIA · 2022Pooled it
- TRUST4RD: tool for reducing uncertainties in the evidence generation for specialised treatments for rare diseases.Orphanet journal of rare diseases · 2020Trial
- Deciding "what" to screen for and "when": The importance of natural history information.American journal of human genetics · 2026Review
- Review
- Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.BMC global and public health · 2026Review
- Patient Outcomes Among Medicare Beneficiaries With Guillain-Barré Syndrome.Journal of the peripheral nervous system : JPNS · 2026Article
- Design, implementation and analysis of a quality assurance process for Informed Consents using the DZHK registry TORCH-DZHK1 as an example.PLOS digital health · 2026Article
- From the rare to the essential: analyzing the needs of physicians and families managing rare diseases.BMC health services research · 2026Article
- Opportunities and challenges in automated coding of electronic health records: a pilot study for rare disease registries.Frontiers in digital health · 2026Article
- Data accuracy in the European Cystic Fibrosis Society Patient Registry: results of an on-site data validation project.Orphanet journal of rare diseases · 2025Article
- Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis.Journal of neuromuscular diseases · 2025Observational
- MGBase: A Global, Observational Registry for Collaborative Research in Myasthenia Gravis.Muscle & nerve · 2025Observational
- The Ethics of Informed Consent for Data Registries: Moving Beyond Moral Minimalism to the High Ground.Bioethics · 2025Article
- Creation and Validation of the Major Pediatric Mitochondrial Cytopathies Minimum Data Set: Consensus from a Moroccan-Tunisian Delphi Study.Children (Basel, Switzerland) · 2025Article
- Building the Foundation for Standardized Care Metrics in Jejunoileal Atresia: A Systematic Review of Reported Baseline Characteristics, Treatment Variables and Outcomes.Journal of clinical medicine · 2025Review
- Creating a National Pediatric Thrombosis Registry: a cohort prospective study by the Iranian Society of Thrombosis and Hemostasis.Annals of medicine and surgery (2012) · 2025Article
- The RaDiCo information system for rare disease cohorts.Orphanet journal of rare diseases · 2025Article
- Clinical Outcome of Patients with Osteogenesis Imperfecta on Intravenous Pamidronate Treatment at the Philippine General Hospital from 2010-2018.Acta medica Philippina · 2025Article
38 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors.
Funding
Abstract
Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.
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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.