The therapeutic potential of the human cystic fibrosis transmembrane conductance regulator gene

Abstract

The cloning of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), mutations of which are responsible for the clinical onset of cystic fibrosis (CF), along with progress in understanding the interplay between CFTR functions and the CF cellular phenotype have prompted many investigators to explore the therapeutic potential of CFTR gene delivery to airway cells in CF patients. In the last four years, a large number of Phase I clinical trials have been started. The results from the very first trials, although mixed, showed that it was possible to transfer and express the CFTR gene, and in certain cases restore the functional electrophysiological properties of the diseased CF cells. These initial trials have been fundamental in encouraging more basic research on vector design to improve the safety and efficiency of persistent CFTR gene transfer, and to introduce novel ways of administration and new techniques to assess the potential therapeutic efficacy of functional gene expression. New Phase I clinical trials based on novel protocol design were therefore initiated.

• adeno-associated virus
• adenovirus
• aerosol
• cationic lipids
• CFTR
• clinical trials
• cystic fibrosis
• gene therapy
• plasmid DNA