Tritherapy with cystic fibrosis transmembrane conductance regulator protein modulators in cystic fibrosis

Abstract

Recent studies have shown that therapy with Cystic fibrosis transmembrane conductance regulator (CFTR) modulators in Cystic Fibrosis (CF) patients with Elexacaftor-Tezacaftor-Ivacaftor (ETI) decreases exacerbations and improves lung function and quality of life. Objective: to report the clinical response in the first patient in our setting treated with ETI. Clinical Case: 14-year-old female patient with severe cystic fibrosis phenotype, heterozygous for the Phe508del mutation (Phe508del/1078delT), with moderate pulmonary involvement and pancreatic insufficiency (PI). The patient started ETI therapy after the disease entered a phase of clinical and pulmonary function deterioration. From the second visit (45 days) until the end of the follow-up (365 days), the patient experienced a significant improvement in the quality-of-life domains measured by the CFQ-R 14+ questionnaire. In the pulmonary function study at 45 and 365 days, FVC increased by 21% and 22%, FEV1 by 20% and 27%, and FEF 25-75 by 23% and 37%, respectively. Nutritional assessment parameters in the first six months of follow-up showed an increase in wBMI from 1.6 to 5.6 k. No adverse effects were observed. Conclusion: treatment with ETI in our CF patient showed a remarkable improvement in quality of life, pulmonary function, and nutritional status.