Elexacaftor–Tezacaftor–Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del/Unknown Genotype

The new CFTR modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta) was approved by the FDA in October 2019 for treatment of Cystic Fibrosis patients 6 years age or older who have at least one F508del mutation allele and a minimal-function another other allele. However, there is group patients, addition to those with rare mutations, which despite presence allele, it not possible identify any To date, these are excluded from Trikafta Italy, where CF carrying F508del/unknown represent about 1.3% (71 patients) overall Italian patients. In this paper we show that nasal epithelial cells, derived F508del/Unknown results significant rescue activity. Based on our findings, think considered study could obtain clinical benefits treatment, strongly suggest their eligibility type treatment. This study, adding further evidence literature, once again confirms validity functional studies cells cystic fibrosis theratyping personalized medicine.