P073 Clinical efficacy of CFTR modulator therapy in patients carrying the I1234V mutation

Background: The cystic fibrosis transmembrane conductance regulator (CFTR) mutation I1234V (I1234V, p.Ile1234Val, c.3700A>G), found mainly in the Middle East, is a missense-causing that creates cryptic splice site, with formation of protein lacking 6 amino acids misfolded and misprocessed. vitro effect modulators on human bronchial cell models intestinal organoids has shown controversial results. aim our study was to explore clinical CFTR patients carrying mutation. Methods: We conducted retrospective descriptive records 7 homozygous or compound heterozygous for mutation, from two major CF centers Israel. Parameters explored were body mass index (BMI), forced expiratory volume one second percent predicted (FEV1%), lung clearance (LCI) quantitative sweat chloride measurements. Values pre- post-therapy compared using Student’s t-test. Results: Mean age 38.6 ± 14 years (range 21–60). Two five (with minimal function mutation). 5 pancreatic insufficient, Cystic related diabetes mellitus (CFRD) present 2 CF-associated liver disease (CFLD) patient. Chronic pseudomonas airway infection 6/7 patients. received tezacaftor/ivacaftor, others treated elexacaftor/tezacaftor/ivacaftor. Treatment ranged 36 months. FEV1% increased 60.5 21 74 30% (p = 0.18), LCI 2.5%. decreased 18.7 14.5 0.07). Sweat 116 10 90 17 mEq/L 0.017), mean BMI score 21.7 1.3 23.6 2.1 kg/m2 0.04). In patient, chronic eradicated. Conclusions: This demonstrates benefit modulator therapy