CFTR rescue in W1282X cystic fibrosis patient-derived intestinal organoids (PDIOs) mediated by translational readthrough-inducing drugs (TRIDs)

Pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene result in dysfunctions of the CFTR protein, leading to cystic fibrosis (CF). This genetic disorder is characterized by severe symptoms in the respiratory and digestive systems.Currently, highly effective CFTR modulator treatments, such as the Elexacaftor-Tezacaftor-Ivacaftor combination, may represent the primary therapeutic option for approximately 82% of people with cystic fibrosis who have at least 1 F508del variant.