ReviewFrontiers in endocrinology2022
Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience.
Review in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 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
46 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.Journal of inherited metabolic disease · 2025Pooled it
- Licensing of Orphan Medicinal Products-Use of Real-World Data and Other External Data on Efficacy Aspects in Marketing Authorization Applications Concluded at the European Medicines Agency Between 2019 and 2021.Frontiers in pharmacology · 2022Pooled it
- Strengthening Rare Disease Data Readiness: a semantic approach to cross-registry interoperability.Scientific data · 2026Article
- Real-world insights into neurodevelopmental outcomes amongst people with congenital hyperinsulinism.Orphanet journal of rare diseases · 2026Article
- Review
- Extracting homogenous data from heterogenous diseases: RaraSwed, the Swedish national rare disease quality registry.BMC global and public health · 2026Review
- Development of the first myasthenia gravis patient registry in Latvia: a single-centre experience.Scientific reports · 2026Article
- Underutilization of syndrome-specific ICD-10 codes for genetic epilepsies: Implications for precision medicine.Epilepsia · 2026Article
- Quality and Safety Imperatives in the Identification and Management of Hereditary Cancer Syndromes.Seminars in oncology nursing · 2026Review
- The Potential of Digital Twins for Pediatric Rare Diseases.CPT: pharmacometrics & systems pharmacology · 2026Review
- On the crossroads of interdisciplinary medicine in amyloidosis - study protocol for a single-center interdisciplinary registry study.PloS one · 2026Article
- Opportunities and challenges in automated coding of electronic health records: a pilot study for rare disease registries.Frontiers in digital health · 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
- ZebraMap: A Multimodal Rare Disease Knowledge Map with Automated Data Aggregation & LLM-Enriched Information Extraction Pipeline.Diagnostics (Basel, Switzerland) · 2025Article
- Trial Readiness: Understanding the Natural History of Rare Diseases.Journal of inherited metabolic disease · 2025Review
- Insights into Support Systems for Orphan Drug Development: A Comparative Study.Therapeutic innovation & regulatory science · 2025Review
- Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita.American journal of medical genetics. Part A · 2025Article
- Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.Orphanet journal of rare diseases · 2025Review
- Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions.European journal of pediatrics · 2025Article
- Descriptive epidemiology demonstrating the All of Us database as a versatile resource for the rare and undiagnosed disease community.Journal of the American Medical Informatics Association : JAMIA · 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
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases, such as inherited metabolic diseases, have been identified as a health priority within the European Union more than 20 years ago and have become an integral part of EU health programs and European Reference Networks. Having the potential to pool data, to achieve sufficient sample size, to overcome the knowledge gap on rare diseases and to foster epidemiological and clinical research, patient registries are recognized as key instruments to evidence-based medicine for individuals with rare diseases. Patient registries can be used for multiple purposes, such as (1) describing the natural history and phenotypic diversity of rare diseases, (2) improving case definition and indication to treat, (3) identifying strategies for risk stratification and early prediction of disease severity (4), evaluating the impact of preventive, diagnostic, and therapeutic strategies on individual health, health economics, and the society, and (5) informing guideline development and policy makers. In contrast to clinical trials, patient registries aim to gather real-world evidence and to achieve generalizable results based on patient cohorts with a broad phenotypic spectrum. In order to develop a consistent and sustained framework for rare disease registries, uniform core principles have been formulated and have been formalized through the European Rare Disease Registration Infrastructure. Adherence to these core principles and compliance with the European general data protection regulations ensures that data collected and stored in patient registries can be exchanged and pooled in a protected environment. To illustrate the benefits and limitations of patient registries on rare disease research this review focuses on inherited metabolic 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.