Division of Pulmonary Allergy Immunology Sleep Medicine, Department of Pediatrics, Pediatric Pulmonary Allergy Immunology and Sleep Medicine, Yale Cystic Fibrosis Center, School of Medicine, Yale University, 333 Cedar Street, PO Box 208064, New Haven, CT 06520, USA.
Clin Chest Med. 2022 Dec;43(4):717-725. doi: 10.1016/j.ccm.2022.06.011.
Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy brings hope to most patients with cystic fibrosis (CF), but not all. For approximately 12% of CF patients with premature termination codon mutations, large deletions, insertions, and frameshifts, the CFTR modulator therapy is not effective. Many believe that genetic-based therapies such as RNA therapies, DNA therapies, and gene editing technologies will be needed to treat mutations that are not responsive to modulator therapy. Delivery of these therapeutic agents to affected cells is the major challenge that will need to be overcome if we are to harness the power of these emerging therapies for the treatment of CF.
囊性纤维化跨膜电导调节因子（CFTR）调节剂治疗为大多数囊性纤维化（CF）患者带来了希望，但并非所有患者都如此。对于大约 12%的具有终止密码子突变、大片段缺失、插入和移码突变的 CF 患者，CFTR 调节剂治疗无效。许多人认为，需要基于遗传的治疗方法，如 RNA 治疗、DNA 治疗和基因编辑技术，来治疗对调节剂治疗无反应的突变。如果我们要利用这些新兴疗法治疗 CF，那么将这些治疗剂递送到受影响的细胞是需要克服的主要挑战。
