Estimating the Risk for and Severity of Respiratory Infections Attributable to CFTR Heterozygosity

What this Trial Is About

This research investigates respiratory infections and their severity related to being a carrier of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It compares people who are carriers of the CF gene to those who are not carriers, aiming to understand differences in respiratory function and infection risk. The study is observational and focuses on measuring biological and functional respiratory markers at baseline. Participants include two groups: those identified as CF carriers and those who are not carriers or patients with cystic fibrosis. The study involves collecting nasal cells using a cytology brush from the middle turbinate of the nasal cavity. Blood samples are also drawn to measure markers such as c-reactive protein, calprotectin, lactoferrin, and fibroblast growth factor-19. Participants answer a baseline survey and report their current medications during an interview. Throughout the study, researchers assess respiratory function through various baseline measures including chloride and bicarbonate transport, airway surface liquid pH, mucus viscosity, and bacterial killing ability. Blood tests complement these assessments by evaluating inflammatory and growth factors. Participants’ involvement includes surveys, sample collection, and interviews. The study runs from December 2021 with data collection expected through July 2026, focusing on understanding risk and severity indicators related to CFTR heterozygosity.

Estimating Risk of Respiratory Infections Attributable to CFTR Heterozygosity