ArticleBMJ open2022
Criteria to define rare diseases and orphan drugs: a systematic review protocol.
Article in BMJ open, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Global insight into rare disease and orphan drug definitions: a systematic literature review.BMJ open · 2025Pooled it
- The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.JMIR medical informatics · 2026Article
- Health service access and delivery for people living with rare disorders: a scoping review.Orphanet journal of rare diseases · 2026Article
- Vogt-Koyanagi-Harada Syndrome: Clinical Features, Immunogenetic Predisposition and PD-1 Inhibitor-Induced Forms-A Comprehensive Review.Journal of clinical medicine · 2026Review
- Systematic identification of rare disease patients in electronic health records enables evaluation of clinical outcomes.Scientific reports · 2026Article
- How to evaluate rare disease policy effectiveness based on policy modeling consistency (PMC) index model: A quantitative assessment of policy implementation in China.Intractable & rare diseases research · 2026Article
- A survey of public attitudes toward secondary research governance oversight: Evidence from Singapore's TRUST platform.International journal of population data science · 2026Article
- Navigating rare disorder healthcare in Aotearoa New Zealand: an interpretative phenomenological analysis.Frontiers in health services · 2026Article
- Prevalence of diagnosed idiopathic hypersomnia among adults in the United States 2019-2023: analysis of healthcare claims.Sleep advances : a journal of the Sleep Research Society · 2026Article
- Privacy-by-Design with Federated Learning will drive future Rare Disease Research.Journal of neuromuscular diseases · 2026Review
- GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.NAR genomics and bioinformatics · 2025Article
- Common features of rare disease patients in the emergency department: a systematised literature review.Orphanet journal of rare diseases · 2025Review
- Health-related quality of life and productivity burden for non-professional caregivers of adults with rare diseases: a real-world study.Orphanet journal of rare diseases · 2025Article
- Plant molecular farming: a promising frontier for orphan drug production.Biotechnology letters · 2025Review
- A retrospective study of insurance coverage status and economic cost of rare diseases in Hainan Province.Scientific reports · 2025Article
- Rare Diseases, Spotlighting Amyotrophic Lateral Sclerosis, Huntington's Disease, and Myasthenia Gravis: Insights from Landscape Analysis of Current Research.Biochemistry · 2025Review
- When neuromuscular disorders become stars.Journal of neurology · 2025Article
- Clinical and Pathophysiological Tangles Between Allergy and Autoimmunity: Deconstructing an Old Dichotomic Paradigm.Clinical reviews in allergy & immunology · 2025Review
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Exploring Current Health Policies on Rare Diseases in Greece: A Narrative Review.International journal of pediatrics · 2025Review
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
Abstract
introductionRare diseases (RDs) are often chronic and progressive life-threatening medical conditions that affect a low percentage of the population compared with other diseases. These conditions can be treated with medications known as orphan drugs (ODs). Unfortunately, there is no universal definition of RDs or ODs. This systematic review (SR) will identify the quantitative and qualitative criteria and the underlying rationale used internationally to define RDs and ODs. METHODS AND ANALYSIS: This protocol follows the conventions for the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (2015 guidelines). A SR will be conducted, including a search of the following databases: PubMed, MEDLINE, EMBASE, Scopus, Web of Science, GreyLit and OpenGrey. Eligible publications will be selected based on predetermined inclusion criteria. Extracted data will be analysed using thematic and content analyses of qualitative descriptors, whereas quantitative data will be analysed descriptively and reported in the form of frequencies and percentages. ETHICS AND DISSEMINATION: No ethical approval is required since this SR focuses on the secondary analysis of data retrieved from the scientific literature. The outcomes of this SR will be published as part of a PhD thesis, presented at conferences, and published in peer-reviewed journals. PROSPERO REGISTRATION NUMBER: CRD42021252701.
Indexed as
Identifiers
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.