Researchers have found that an experimental gene therapy is an effective way to help children suffering from a rare brain disease. A team of researchers from New York-Presbyterian Hospital/Weill Cornell Medicine Center have found that the gene therapy had positive effects in slowing the progression of Batten disease, or Late Infantile Neuronal Ceroid Lipofuscinosis (LINCL).

LINCL is an autosomal recessive disease caused by mutations in a gene resulting in functional defects of the gene product tripeptidyl-peptidase I. This disease is usually fatal in children before the age of 13.

It is a progressive neurodegenerative course beginning at the age of two years with developmental stagnation. It ultimately leads to a complete loss of motor function, vision and speech by the age of ten years. Children then generally become wheelchair-bound, then bedridden.

Out of all of the children tested, the gene therapy slowed the progression of the disease 80 percent of the time. Ronald Crystal and colleagues from Weill Cornell Medical College chose 10 children from the U.S., Britain, Australia and Germany, five severely affected by the disease and five moderately affected.

According to eFluxmedia, the surgeons created six tiny holes in their skull, and then injected into the brain a liquid containing the specific gene within the harmless adeno-associated virus (AAV). The disease is diagnosed via DNA testing and strikes two to four of every 100,000 babies in the U.S., according to the National Institutes of Health.