GENE THERAPY USHTHER

Dr Alberto Auricchio from Naples (Italy) also does research into a treatment for USH1B.  As the MYO7A gene is too large to be packed in one AAV vector, he studies the possibility to deliver a healthy MYO7A gene with a double AAV vector in the retina. The MYO7A gene is split in two and each part is packed in an AAV vector. After application of the 2 AAV vectors to the eye, the cells in the retina should reconnect the information from both vectors and so create the good Myosin 7A protein. Auricchio demonstrated that this method worked in the eyes of the animal models ‘pigs’ and ‘mice’. It was also shown that when this therapy is applied during the embryonic development to the cochlea in animal models, the morphology (structures) of the cilia can be recovered. This study demonstrated that the method also worked in the eyes of mice and pig models. Recently, Auricchio was given approval for a phase 1/2 clinical trial, in which this therapy will be tested for the first time with Usher Syndrome type 1B patients for safety and effectiveness.