Migliorisi Giuseppe, Collura Mirella, Ficili Francesca, Pensabene Tiziana, Bongiorno Dafne, Collura Antonina, Di Bernardo Francesca, Stefani Stefania
Unit of Clinical Microbiology, ARNAS Civico-Di Cristina-Benfratelli, 90127 Palermo, Italy.
Cystic Fibrosis and Respiratory Pediatric Center, Children's Hospital G. Di Cristina, ARNAS Civico-Di Cristina-Benfratelli, 90127 Palermo, Italy.
Pharmaceuticals (Basel). 2022 May 14;15(5):606. doi: 10.3390/ph15050606.
The use of modulator drugs that target the Cystic Fibrosis transmembrane conductance regulator (CFTR) is the final frontier in the treatment of Cystic Fibrosis (CF), a genetic multiorgan disease. F508del is the most common mutation causing defective formation and function of CFTR. Elexacaftor-tezacaftor-ivacaftor is the first triple combination of CFTR modulators. Herein, we report on a one-year case-control study that involved 26 patients with at least one F508del mutation. Patients were assigned to two similar groups, and patients with the worse clinical condition received treatment with the triple combination therapy. The study aimed to define the clinical and especially microbiological implications of treatment administration. The treatment provided significant clinical benefits in terms of respiratory, pancreatic, and sweat function. After one year of therapy, airway infection rates decreased and pulmonary exacerbations were dramatically reduced. Finally, treated patients reported a surprising improvement in their quality of life. The use of triple combination therapy has become essential in most CF people carrying the F508del mutation. Although the clinical and instrumental benefits of treatment are thoroughly known, further investigations are needed to properly define its microbiological respiratory implications and establish the real advantage of life-long treatment with elexacaftor-tezacaftor-ivacaftor.
使用针对囊性纤维化跨膜传导调节因子（CFTR）的调节剂药物是治疗囊性纤维化（CF）这一遗传性多器官疾病的最后前沿领域。F508del是导致CFTR形成缺陷和功能异常的最常见突变。依列卡福-替扎卡福-艾伐卡福是首个CFTR调节剂三联组合药物。在此，我们报告一项为期一年的病例对照研究，该研究纳入了26例至少携带一种F508del突变的患者。患者被分为两个相似的组，临床状况较差的患者接受三联联合疗法治疗。该研究旨在明确治疗给药的临床意义，尤其是微生物学意义。该治疗在呼吸、胰腺和汗液功能方面带来了显著的临床益处。经过一年的治疗，气道感染率下降，肺部恶化情况大幅减少。最后，接受治疗的患者报告其生活质量有了惊人的改善。对于大多数携带F508del突变的CF患者而言，三联联合疗法的使用已变得至关重要。尽管治疗的临床和仪器检查益处已为人熟知，但仍需进一步研究以恰当界定其微生物学呼吸意义，并确定依列卡福-替扎卡福-艾伐卡福终身治疗的真正优势。
