Gene therapy is the delivery of DNA into a patient’s cells to replace faulty or missing genes—or adds new genes—in an attempt to cure cancer or make changes so the body is better able to fight off disease. Scientists and clinicians have identified a number of different ways to do this, in an effort to correct malfunctioning or mutated genes. Many gene therapy clinical trials are ongoing to assess the safety and potential benefits in patients with rare diseases.
Researchers and clinicians at leading children’s hospitals in Ohio believe that gene therapy is the key to addressing Sanfilippo (SF) Syndrome, a genetic metabolism disorder that prohibits the proper breakdown of the body’s sugar molecules in a cell organelle called the lysosome. There are 4 types of MPS III (MPS III A, MPS III B, MPS III C, and MPS III D), each with a deficiency in one of four lysosomal enzymes. The disease affects the central nervous system, causing severe brain damage, and typically results in hearing loss, vision loss, organ damage, bone deformities, and eventual death. There is currently no approved treatment for SF, and approximately 70% of the children with the disease do not reach their 18th birthday.
