Division of Pulmonary, Critical Care and Sleep Medicine, Department of Medicine, University of Washington, Seattle, WA, USA.
Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.
J Cyst Fibros. 2021 May;20(3):381-387. doi: 10.1016/j.jcf.2021.01.007. Epub 2021 Jan 30.
The last decade has seen development of oral, small molecule therapies that address the basic cystic fibrosis transmembrane conductance regulator (CFTR) protein defect. Highly effective modulator treatment (HEMT) that is efficacious for a large majority of people living with cystic fibrosis (CF) promises to change the landscape of this chronic life-limiting disease. Some people living with CF have a CFTR genotype that renders them eligible for HEMT, but also have comorbidities that excluded them from the original Phase III clinical trials that led to US Food and Drug Administration approval. The purpose of this review is to address the use of HEMT in challenging situations, including initiation for those with advanced CF lung disease, and use after solid organ transplant, during pregnancy, and for individuals with CFTR-related disorders without a definitive diagnosis of CF.
在过去的十年中，已经开发出了口服小分子疗法，可以解决基本的囊性纤维化跨膜电导调节剂（CFTR）蛋白缺陷。对于大多数患有囊性纤维化（CF）的人来说，高效调节剂治疗（HEMT）非常有效，有望改变这种慢性限制生命的疾病的前景。一些患有 CF 的人具有 CFTR 基因型，使他们有资格接受 HEMT，但也有合并症，使他们无法参加导致美国食品和药物管理局批准的原始 III 期临床试验。本综述的目的是讨论 HEMT 在具有挑战性的情况下的使用，包括对晚期 CF 肺病患者的起始治疗，以及在实体器官移植、怀孕期间以及对 CFTR 相关疾病但没有明确 CF 诊断的个体的使用。
