Women and Children's Health, University of Liverpool, Liverpool, United Kingdom.
Cystic Fibrosis Center, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
J Cyst Fibros. 2023 Jan;22(1):17-30. doi: 10.1016/j.jcf.2022.10.002. Epub 2022 Oct 28.
Cystic fibrosis (CF) has entered the era of variant-specific therapy, tailored to the genetic variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR modulators, the first variant-specific therapy available, have transformed the management of CF. The latest standards of care from the European CF Society (2018) did not include guidance on variant-specific therapy, as CFTR modulators were becoming established as a novel therapy. We have produced interim standards to guide healthcare professionals in the provision of variant-specific therapy for people with CF. Here we provide evidence-based guidance covering the spectrum of care, established using evidence from systematic reviews and expert opinion. Statements were reviewed by key stakeholders using Delphi methodology, with agreement (≥80%) achieved for all statements after one round of consultation. Issues around accessibility are discussed and there is clear consensus that all eligible people with CF should have access to variant-specific therapy.
囊性纤维化 (CF) 已进入针对囊性纤维化跨膜电导调节因子 (CFTR) 基因突变的个体化治疗时代。CFTR 调节剂作为首个获批的个体化治疗药物,改变了 CF 的治疗模式。欧洲 CF 学会 (2018) 的最新治疗标准并未包含关于个体化治疗的指导,因为 CFTR 调节剂已成为一种新的治疗方法。我们制定了临时标准,以指导医疗保健专业人员为 CF 患者提供个体化治疗。在这里,我们提供了基于证据的指导,涵盖了护理的各个方面,这些指导是使用系统评价和专家意见中的证据制定的。使用 Delphi 方法对关键利益相关者进行了陈述审查,在一轮咨询后,所有陈述均达成≥80%的一致意见。本文讨论了可及性问题,并明确达成共识,即所有符合条件的 CF 患者都应能够获得个体化治疗。