ArticleGenetics and molecular biology2019
Clinical research challenges in rare genetic diseases in Brazil.
Article in Genetics and molecular biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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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.
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Who cites it
8 citing papers in PubMed.
- Clinical research in rare diseases in Brazil: challenges and opportunities.Journal of community genetics · 2025Article
- The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).Journal of community genetics · 2024Article
- Review
- Initiatives to promote access to medicines after publication of the Brazilian Policy on the Comprehensive Care of People with Rare Diseases.Orphanet journal of rare diseases · 2023Article
- Designs used in published therapeutic studies of rare superficial vascular anomalies: a systematic literature search.BMC medical research methodology · 2023Review
- Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023Review
- The past, present and future of genomics and bioinformatics: A survey of Brazilian scientists.Genetics and molecular biology · 2022Article
- Rare diseases in Chile: challenges and recommendations in universal health coverage context.Orphanet journal of rare diseases · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Rare diseases are defined as conditions with a prevalence of no more than 6.5 per 10,000 people. Although each rare disease individually affects a small number of people, collectively, the 6,000 to 8,000 rare conditions (80% of them with genetic cause) affect around 8% of the world's population. Research about the natural history and underlying pathophysiological mechanisms of rare diseases, as well as clinical trials with new drugs, are important and necessary to develop new strategies for the treatment of these conditions. This report describes the experience of a clinical research group working with rare diseases in a reference center for lysosomal diseases in Brazil (Medical Genetics Service, Hospital de Clínicas de Porto Alegre). The activities of this research group enabled its participation in several international multicenter clinical research protocols related to the natural history or therapy development for rare genetic diseases. This participation has allowed the development of personal skills and institutional facilities for clinical research. The clinical research developed in our center has raised the quality of the medical assistance provided to non-clinical research patients in addition to enabling early access to new therapies to many patients with orphan conditions.
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.