Institut Necker Enfants Malades. INSERM U1151, Paris, France.
LCBPT, UMR CNRS 8601, Paris, France; Université de Paris, Paris, France.
Eur J Med Chem. 2021 Mar 5;213:113195. doi: 10.1016/j.ejmech.2021.113195. Epub 2021 Jan 16.
Cystic fibrosis (CF) is the most frequent life-limiting autosomal recessive disorder in the Caucasian population. It is due to mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Current symptomatic CF therapies, which treat the downstream consequences of CFTR mutations, have increased survival. Better knowledge of the CFTR protein has enabled pharmacologic therapy aiming to restore mutated CFTR expression and function. These CFTR "modulators" have revolutionised the CF therapeutic landscape, with the potential to transform prognosis for a considerable number of patients. This review provides a brief summary of their mechanism of action and presents a thorough review of the results obtained from clinical trials of CFTR modulators.
囊性纤维化（CF）是白种人群体中最常见的致死性常染色体隐性遗传病。它是由于囊性纤维化跨膜电导调节因子（CFTR）基因突变引起的。目前针对 CFTR 基因突变下游后果的对症 CF 治疗方法已提高了生存率。更好地了解 CFTR 蛋白使得能够进行药理学治疗，旨在恢复突变 CFTR 的表达和功能。这些 CFTR“调节剂”改变了 CF 的治疗格局，有可能改变相当多患者的预后。本文简要总结了它们的作用机制，并对 CFTR 调节剂的临床试验结果进行了全面回顾。
