source: Duchenne UK
In this brief document, we want to explain in a bit more detail, how gene therapy offers hope as a potential treatment for Duchenne muscular dystrophy. Our aim is to help parents, guardians and patients with DMD, who may not have a detailed science background, to understand what this new approach could deliver.
Children born with Duchenne muscular dystrophy have a fault, known as a mutation, on their dystrophin gene, the longest gene in the body. One challenge of DMD gene therapy is that the dystrophin gene is the longest known gene. Because of this size, it is impossible to insert the entire dystrophin DNA into the AAV vector. So, researchers have created microdystrophin – a shortened version of the dystrophin gene which can fit into the AAV vector. Gene therapy using microdystrophin has successfully been tested in animal models of Duchenne muscular dystrophy.