Department of Thoracic Medicine, Prince Charles Hospital, Brisbane, Australia; Queensland Children's Medical Research Institute, Brisbane, Australia.
Pediatric Pulmonology, Department of Pediatrics, University of Leuven, Leuven, Belgium.
Pharmacol Ther. 2015 Jan;145:19-34. doi: 10.1016/j.pharmthera.2014.06.005. Epub 2014 Jun 14.
With the discovery of the CFTR gene in 1989, the search for therapies to improve the basic defects of cystic fibrosis (CF) commenced. Pharmacological manipulation provides the opportunity to enhance CF transmembrane conductance regulator (CFTR) protein synthesis and/or function. CFTR modulators include potentiators to improve channel gating (class III mutations), correctors to improve abnormal CFTR protein folding and trafficking (class II mutations) and stop codon mutation read-through drugs relevant for patients with premature stop codons (most class I mutations). After several successful clinical trials the potentiator, ivacaftor, is now licenced for use in adults and children (>six years), with CF bearing the class III G551D mutation and FDA licence was recently expanded to include 8 additional class III mutations. Alternative approaches for class I and class II mutations are currently being studied. Combination drug treatment with correctors and potentiators appears to be required to restore CFTR function of F508del, the most common CFTR mutation. Alternative therapies such as gene therapy and pharmacological modulation of other ion channels may be advantageous because they are mutation-class independent, however progress is less well advanced. Clinical trials for CFTR modulators have been enthusiastically embraced by patients with CF and health care providers. Whilst novel trial end-points are being evaluated allowing CFTR modulators to be efficiently tested, many challenges related to the complexity of CFTR and the biology of the epithelium still need to be overcome.
随着 1989 年 CFTR 基因的发现,人们开始寻找改善囊性纤维化(CF)基本缺陷的治疗方法。药物治疗为增强 CF 跨膜电导调节因子(CFTR)蛋白合成和/或功能提供了机会。CFTR 调节剂包括改善通道门控的增敏剂(III 类突变)、改善异常 CFTR 蛋白折叠和转运的矫正剂(II 类突变)和与过早终止密码子相关的终止密码子突变通读药物(大多数 I 类突变)。经过几次成功的临床试验,增敏剂 ivacaftor 现已获准用于成人和儿童(>6 岁),携带 III 类 G551D 突变,美国食品和药物管理局(FDA)最近扩大了许可范围,包括另外 8 种 III 类突变。目前正在研究针对 I 类和 II 类突变的替代方法。校正剂和增敏剂的联合药物治疗似乎是恢复 F508del(最常见的 CFTR 突变)CFTR 功能所必需的。基因治疗和其他离子通道的药理学调节等替代疗法可能具有优势,因为它们与突变类型无关,但进展不太理想。CFTR 调节剂的临床试验受到 CF 患者和医疗保健提供者的热烈欢迎。虽然正在评估新的试验终点,以使 CFTR 调节剂能够得到有效测试,但仍需要克服与 CFTR 复杂性和上皮生物学相关的许多挑战。