Roda Juliana, Pinto-Silva Catarina, Silva Iris A I, Maia Carla, Almeida Susana, Ferreira Ricardo, Oliveira Guiomar
Pediatric Gastroenterology and Nutrition Unit, Centro Hospitalar e Universitario de Coimbra EPE Hospital Pediátrico de Coimbra, Avenida Afonso Romão 3000-602 Coimbra, Portugal.
Pediatric Gastroenterology and Nutrition Unit, Centro Hospitalar e Universitário de Coimbra EPE, Hospital Pediátrico de Coimbra, Coimbra, Portugal.
Ther Adv Chronic Dis. 2022 May 21;13:20406223221098136. doi: 10.1177/20406223221098136. eCollection 2022.
Cystic fibrosis (CF), a life-limiting chronic disease caused by mutations in the cystic fibrosis transmembrane regulator (CFTR) gene, affects more than 90,000 people worldwide. Until recently, the only available treatments were directed to symptom control, but they failed to change the course of the disease. New drugs developed in the last decade have the potential to change the expression, function, and stability of CFTR protein, targeting the basic molecular defect. The authors seek to provide an update on the new drugs, with a special focus on the most promising clinical trials that have been carried out to date. These newly approved drugs that target specific mutations are mainly divided into two main groups of CFTR modulators: potentiators and correctors. New therapies have opened the door for potentially disease-modifying, personalized treatments for patients with CF.
囊性纤维化（CF）是一种由囊性纤维化跨膜传导调节因子（CFTR）基因突变引起的危及生命的慢性疾病，全球有超过9万人受其影响。直到最近，唯一可用的治疗方法都是针对症状控制，但这些方法未能改变疾病的进程。过去十年研发的新药有可能改变CFTR蛋白的表达、功能和稳定性，针对基本分子缺陷。作者旨在提供新药的最新情况，特别关注迄今为止进行的最有前景的临床试验。这些新批准的针对特定突变的药物主要分为CFTR调节剂的两个主要类别：增强剂和校正剂。新疗法为CF患者带来了潜在的疾病修饰性个性化治疗的大门。
