The Department of Cystic Fibrosis and Chronic Lung Infection, National Heart and Lung Institute, Imperial College London, Emmanuel Kaye Building, 1B Manresa Road, London, SW36LR, UK.
Paediatr Drugs. 2018 Dec;20(6):555-566. doi: 10.1007/s40272-018-0315-z.
Cystic fibrosis is the most common inherited condition in the Caucasian population and is associated with significantly reduced life expectancy. Recent advances in treatment have focussed on addressing the underlying cause of the condition, the defective production, expression and function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Several drugs with different modes of action have produced promising results in clinical trials, and some have been incorporated into routine clinical care for specific patients in many countries worldwide. Further trials continue to explore the safety and efficacy of these drugs in the youngest age groups and to search for more effective therapies to treat the most common disease-causing gene mutations in an ever-expanding drug pipeline. As evidence mounts for the early onset of disease in young patients, the prospect of introducing disease-modifying therapy in early life becomes more pertinent, although the cost implications of these expensive drugs are significant. In this review, we summarise these new therapy advances and review those currently being explored in clinical trials.
囊性纤维化是白种人群体中最常见的遗传疾病，与预期寿命显著缩短有关。最近的治疗进展集中在解决该疾病的根本原因上，即囊性纤维化跨膜电导调节因子 (CFTR) 蛋白的缺陷产生、表达和功能。几种具有不同作用机制的药物在临床试验中取得了有希望的结果，并且在世界上许多国家的许多特定患者中已纳入常规临床护理。进一步的试验继续探索这些药物在最年轻年龄组的安全性和有效性，并寻找更有效的疗法来治疗不断扩大的药物管线上最常见的致病基因突变。随着年轻患者疾病早期发病的证据不断增加，在生命早期引入疾病修正疗法的前景变得更加相关，尽管这些昂贵药物的成本影响是巨大的。在这篇综述中，我们总结了这些新的治疗进展，并回顾了目前正在临床试验中探索的那些进展。
