Esposito Christine, Kamper Martin, Trentacoste Jessica, Galvin Susan, Pfister Halie, Wang Janice
Division of Pulmonary, Critical Care and Sleep Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New Hyde Park, New York, NY 11042, USA.
Division of Pediatric Pulmonology, The Steven and Alexandra Cohen Children's Medical Center, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Lake Success, New York, NY 11042, USA.
Life (Basel). 2023 Aug 30;13(9):1835. doi: 10.3390/life13091835.
Cystic fibrosis is a genetic disease that results in progressive multi-organ manifestations with predominance in the respiratory and gastrointestinal systems. The significant morbidity and mortality seen in the CF population has been the driving force urging the CF research community to further advance treatments to slow disease progression and, in turn, prolong life expectancy. Enormous strides in medical advancements have translated to improvement in quality of life, symptom burden, and survival; however, there is still no cure. This review discusses the most current mainstay treatments and anticipated therapeutics in the CF drug development pipeline within the mechanisms of mucociliary clearance, anti-inflammatory and anti-infective therapies, restoration of the cystic fibrosis transmembrane conductance regulator (CFTR) protein (also known as highly effective modulator therapy (HEMT)), and genetic therapies. Ribonucleic acid (RNA) therapy, gene transfer, and gene editing are being explored in the hopes of developing a treatment and potential cure for people with CF, particularly for those not responsive to HEMT.
囊性纤维化是一种遗传性疾病,会导致多器官进行性病变,主要累及呼吸和胃肠道系统。囊性纤维化患者出现的高发病率和高死亡率一直促使囊性纤维化研究界进一步推进治疗方法,以减缓疾病进展,进而延长预期寿命。医学上的巨大进步已转化为生活质量、症状负担和生存率的改善;然而,目前仍无法治愈。本综述讨论了囊性纤维化药物研发管道中当前最主要的治疗方法和预期疗法,涉及黏液纤毛清除机制、抗炎和抗感染疗法、囊性纤维化跨膜传导调节因子(CFTR)蛋白的恢复(也称为高效调节剂疗法(HEMT))以及基因疗法。目前正在探索核糖核酸(RNA)疗法、基因转移和基因编辑,以期为囊性纤维化患者开发出一种治疗方法和潜在的治愈方案,特别是针对那些对HEMT无反应的患者。