ArticleOrphanet journal of rare diseases2022
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN).
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- The Minimum Data Set for Rare Diseases: Systematic Review.Journal of medical Internet research · 2023Pooled it
- Clinical and Genetic Spectrum ofNeurology. Genetics · 2026Article
- Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.Journal of community genetics · 2026Article
- Repercussions of Diagnostic Delay in Rare Diseases.Journal of genetic counseling · 2026Review
- Mapping Rare Disease Registries in Brazil: Situational Analysis and Proposal for National Unification.Journal of medical systems · 2026Article
- Article
- Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review.JMIR medical education · 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
- 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
- Clinical research in rare diseases in Brazil: challenges and opportunities.Journal of community genetics · 2025Article
- Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.Journal of community genetics · 2025Review
- Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing.Journal of community genetics · 2025Article
- Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.Journal of community genetics · 2025Article
- Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network.Orphanet journal of rare diseases · 2024Article
- Rare diseases: What rheumatologists need to know?Advances in rheumatology (London, England) · 2024Review
- Oral Problems in Brazilian Individuals with Rare Genetic Diseases That Affect Skeletal Development.International journal of environmental research and public health · 2024Article
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.
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.