Gene therapy of cystic fibrosis

Cystic fibrosis represents a paradigm for gene therapy of hereditary disorders. Because it is a monogenic disease, it was believed that it would be relatively simple to approach by gene therapy In fact, it turned out that the apical side of the respiratory epithelium is resistant to transduction by various gene vectors, including recombinant adenoviruses. In addition, the relationship between the genetic defect (the mutated CFTR gene) and the pathogenesis of the disease is more complex than was thought at first. So far, the results of gene therapy trials in patients with cystic fibrosis have been disappointing in terms of efficacy. However, they have brought a fair amount of new information about the basic mechanism of this disease.