In a clinical trial, reported on in the May 13 online issue of Human Gene Therapy, neurological surgeons created six tiny holes in the skull of a patient, and then injected into the brain a liquid containing the healthy CLN2 gene within the harmless adeno-associated virus (AAV).
"The virus is used as a Trojan horse that houses and then delivers a healthy, functional gene into the cells of the brain," Crystal said. "The genes are incorporated within the genetic material of the cells, which are then able to produce a protein that is deficient in Batten disease."
In following the patients for 18 months after the procedure, the team found the gene therapy safely and effectively slowed the disease's progression.
"Before now, we had no hope of a therapy for Batten disease, but today, we can say that there is some hope," Crystal said. "These results are not just promising for sufferers of the disease, but suggest that gene therapy can work and should be studied for other neurological disorders. Each gene in our body has the potential to become a target to study for human disease."