Data/hora: 16/06/2024 10:38:04

Provedor de dados: | 74
País: | Brazil
Título: | Clinical research challenges in rare genetic diseases in Brazil
Autores: | Giugliani,Luciana; Vanzella,Claudia; Zambrano,Marina Bauer; Donis,Karina Carvalho; Wallau,Thaís Klassmann Wendland; Costa,Fernando Machado da; Giugliani,Roberto.
Data: | 2019-01-01
Ano: | 2019
Palavras-chave: | Clinical research; Clinical investigation; Rare diseases; Lysosomal storage diseases; Enzyme replacement therapy.
Resumo: | 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.
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200305
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/1678-4685-gmb-2018-0174
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.42 n.1 suppl.1 2019
Fonte: | info:eu-repo/semantics/openAccess