Triple combo improves outcomes in cystic fibrosis patients with certain genotype

Treatment with the combination of elexacaftor/tezacaftor/ivacaftor (E/T/I) appears to be safe and effective in patients with cystic fibrosis who harbour the Phe508del (F) and minimal function (MF) mutations, a study has shown.

The retrospective study included 47 patients aged ≥12 years who had at least one copy of the F mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) and MF mutations. These patients received E/T/I in a compassionate use programme that exclusively treated patients with ppFEV₁ <40 or those who were considered for lung transplantation.

Researchers collected data from the first 6 months of treatment. They evaluated lung function, body mass index (BMI), sweat chloride concentration, quality of life, and safety at months 1, 3, and 6 following treatment initiation.

At month 6, sweat chloride concentration decreased from a mean of 91.1 mmol/L to 46.2 mmol/L. This reduction occurred in parallel with improved lung function (mean absolute increase in ppFEV1: 10.69, 95 percent confidence interval [CI], 8.05–13.33 at 1 month and 14.16, 95 percent CI, 11.43–16.89 at 6 months).

Nutrition also improved, with mean BMI increasing from 20.7 kg/m² at baseline to 22.6 kg/m² at 6 months, as did quality of life.

There were no safety concerns observed.