Pozzebon da Silva Larissa, Alves Vieira Taiane, Leiria da Silveira Gabriela, Giugliani Roberto
Rare Diseases Brazil Research Group (DR Brasil), Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
Casa Dos Raros, Porto Alegre, Brazil.
J Community Genet. 2025 May 15. doi: 10.1007/s12687-025-00793-4.
This article provides a concise overview of the clinical research landscape concerning Rare Diseases in Brazil. Rare Diseases, affecting a small portion of the population, present a substantial public health concern. Estimates suggest that between 7 to 12 million Brazilians may be affected by these conditions. Despite incomplete epidemiological data on Rare Diseases in Brazil, collaborative efforts among various institutions are underway to address this gap. The Brazilian Policy of Comprehensive Care for People with Rare Diseases was launched in 2014 aiming to enhance diagnosis and follow-up care, thereby facilitating recruitment for clinical trials. The approval process for clinical studies in Brazil involves rigorous ethical evaluation by CEPs-Comitês de Ética em Pesquisa (Research Ethics Committees) and CONEP-Comissão Nacional de Ética em Pesquisa (National Commission on Ethics in Research), along with regulatory assessment by Anvisa-Agência Nacional de Vigilância Sanitária (the Brazilian Health Regulatory Agency). While timelines for approval can be lengthy, recent regulatory changes are streamlining the process. Despite challenges, conducting clinical research on Rare Diseases in Brazil offers unique opportunities for large, inclusive and diverse patient populations. The evolving regulatory landscape and collaborative initiatives hold promise for accelerating clinical trial participation and advancing therapeutic options for Rare Diseases, consequently improving patient outcomes and quality of life.
本文简要概述了巴西罕见病的临床研究情况。罕见病影响着一小部分人口,是一个重大的公共卫生问题。据估计,700万至1200万巴西人可能受这些疾病影响。尽管巴西罕见病的流行病学数据不完整,但各机构正在共同努力填补这一空白。2014年启动了巴西罕见病患者综合护理政策,旨在加强诊断和后续护理,从而促进临床试验的招募。巴西临床研究的批准过程包括由研究伦理委员会(CEPs)和国家研究伦理委员会(CONEP)进行严格的伦理评估,以及由巴西卫生监管局(Anvisa)进行监管评估。虽然批准时间可能很长,但最近的监管变化正在简化这一过程。尽管存在挑战,但在巴西开展罕见病临床研究为庞大、包容和多样化的患者群体提供了独特机会。不断演变的监管环境和合作倡议有望加速临床试验参与并推进罕见病治疗选择,从而改善患者预后和生活质量。