Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in two siblings with homozygous I1234V mutation cystic fibrosis: A prospective case series
Abstract
Background The missense CFTR variant I1234V (c.3700A > G) produces class II protein-folding defects and is prevalent in the Middle East, yet clinical evidence for elexacaftor/tezacaftor/ivacaftor (ETI) in homozygous carriers is sparse. We prospectively evaluated ETI efficacy and safety in two paediatric siblings with homozygous I1234V cystic fibrosis (CF). Methods A single-centre, prospective case series was undertaken at King Fahad Medical City. Baseline assessments included spirometry, body-mass index (BMI), sputum microbiology, liver biochemistry and high-resolution chest CT. ETI was initiated according to weight-based dosing and patients were reviewed at 6 and 8 months. Primary outcomes were change in percent-predicted forced expiratory volume in 1 second (ppFEV1) and BMI; secondary outcomes were Pseudomonas aeruginosa status, radiological changes and adverse events. Results After eight months of ETI, ppFEV1 increased from 36 % to 46 % in the 11-year-old girl and from 57 % to 73 % in the 9-year-old boy. Corresponding BMI rose from 11.71 kg/m2 (z = −4.37) to 15.48 kg/m2 (z = −1.22) and from 12.69 kg/m2 (z = −3.12) to 15.74 kg/m2 (z = −0.55), respectively. Chronic P. aeruginosa was eradicated in both patients. Chest CT demonstrated reduced mucus plugging and peribronchial wall thickening with partial regression of cystic bronchiectasis. Conclusions ETI produced clinically meaningful improvements in lung function, nutritional status, microbiological clearance and…
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