ArticleInternational journal of environmental research and public health2022
Health Policies for Rare Disease Patients: A Scoping Review.
Article in International journal of environmental research and public health, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Quantifying hope: an EU perspective of rare disease therapeutic space and market dynamics.Frontiers in public health · 2025Pooled it
- Repercussions of Diagnostic Delay in Rare Diseases.Journal of genetic counseling · 2026Review
- Trends in Early-Onset Cancer Incidence Rates in Latin America: A Scoping Review Protocol.Health science reports · 2026Article
- Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study.Community dentistry and oral epidemiology · 2026Article
- Unmet Needs in the Care of Patients with Duchenne Muscular Dystrophy in Brazil.Arquivos de neuro-psiquiatria · 2026Observational
- Interventional Keratoconus Management: The Critical Imperative for Early Detection and Treatment.Clinical ophthalmology (Auckland, N.Z.) · 2026Article
- Promoting Comprehensive Care for People With Rare Diseases in a Tertiary Care Setting in Brazil: Protocol for a Mixed Methods Implementation Study.JMIR research protocols · 2025Article
- Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil.Journal of community genetics · 2025Article
- Building a National Policy for Rare Disease in Brazil.Journal of community genetics · 2025Review
- 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
- Development of a value assessment framework for Health Technology Assessment in rare diseases drugs: insights from a Delphi study in Brazil.International journal of technology assessment in health care · 2025Article
- The role of public health in rare diseases: hemophilia as an example.Frontiers in public health · 2025Review
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Challenges in evaluation and reimbursement of drugs for rare diseases in Saudi Arabia: a Delphi expert consensus.Journal of pharmaceutical policy and practice · 2025Article
- Dental Profile of Brazilian Patients with Rare Skeletal Genetic Disorders: Clinical Features and Associated Factors.Healthcare (Basel, Switzerland) · 2024Article
- Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening.Orphanet journal of rare diseases · 2024Article
- Trends in orphan medicinal products approvals in the European Union between 2010-2022.Orphanet journal of rare diseases · 2024Article
- Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review.Frontiers in public health · 2023Article
- Digital health solution for monitoring and surveillance of Amyotrophic Lateral Sclerosis in Brazil.Frontiers in public health · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify and map the available evidence on the implementation of public health policies directed at individuals with rare diseases, and to compare the implementation of these health policies between Brazil and other countries.
methodA scoping review guided by the PRISMA-ScR and JBI checklists. The search for articles was conducted in eight electronic databases, MEDLINE/Pubmed, Embase, Cochrane Library, Web of Science, Scopus, CINAHL, PsycINFO, and LILACS, using controlled descriptors, synonyms, and keywords combined with Boolean operators. All steps of this review were independently conducted by two researchers. The selected studies were classified by evidence hierarchy, and a generic quantitative tool was used for the assessment of the studies.
resultsA total of 473 studies were identified, of which 13 which met all the inclusion criteria were selected and analyzed. Of these studies, 61.5% (n = 8) had final scores equal to or greater than 70%, i.e., they were classified by this tool as being well-reported. The comparative analysis of international rare diseases demonstrates that public authorities' priorities and recommendations regarding this topic also permeate and apply to the Brazilian context.
conclusionsThe evaluation and monitoring of public policies directed at rare disease patients are urgent and necessary to improve and implement such policies with less bureaucracy and more determination for this unique population that requires timely and high-quality care.
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.