巴西罕见病临床研究:挑战与机遇。

IF 1.8 Q4 GENETICS & HEREDITY
Journal of Community Genetics Pub Date : 2025-08-01 Epub Date: 2025-05-15 DOI:10.1007/s12687-025-00793-4
Larissa Pozzebon da Silva, Taiane Alves Vieira, Gabriela Leiria da Silveira, Roberto Giugliani
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引用次数: 0

摘要

这篇文章提供了一个关于罕见病在巴西临床研究景观的简明概述。影响一小部分人口的罕见疾病是一个重大的公共卫生问题。据估计,有700万至1200万巴西人可能受到这些疾病的影响。尽管巴西关于罕见病的流行病学数据不完整,但各机构正在开展合作努力,以弥补这一差距。巴西于2014年启动了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程序涉及CEPs-Comitês de Ética em Pesquisa(研究伦理委员会)和conep - comisso Nacional de Ética em Pesquisa(国家研究伦理委员会)的严格伦理评估,以及Anvisa-Agência Nacional de vigilicia Sanitária(巴西卫生监管机构)的监管评估。虽然审批的时间可能很长,但最近的监管改革正在简化这一过程。尽管面临挑战,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的机会。不断发展的监管格局和合作倡议有望加速临床试验的参与,推进罕见病的治疗选择,从而改善患者的预后和生活质量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical research in rare diseases in Brazil: challenges and opportunities.

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.

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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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