Towards gene therapy for cystic fibrosis

摘要

The first stage of these studese was to assess the effects of transfer of the cystic fibrosis transmembrane conductance regulator (CFTR) gene into cystic fibrosis (CF) mouse models. In a collaboration with the group at the MRC Human Genetics Unit in Edinburgh we firstly characterised the bio-electric properties of the Edinburgh CF mouse (Nature, 1992:359:211). This demonstrated that the mouse model showed the characteristic chloride defect seen in CF patients. We proceeded to transfer a normal copy of the human CFTR gene complexed with a cationic liposome by nebulisation into the airways of these mice (Nature Genetics 1993:135). We demonstrated approximatley 50 percent correction of the chloride defect in both the nasal and the lower airway epithelium. This suggested to us the feasibility of the first human study of liposome-mediated gene transfer in cystic fibrosis.