CHOP-Led Study Suggests Safe Viruses Containing DNA Code for TPP1 Gene Can Be Injected into Brain Ventricles to Slow Childhood Batten Disease, a Rare and Currently Fatal Inherited Lysosomal Storage Disease

In a study of dogs, scientists showed that a new way to deliver replacement genes may be effective at slowing the development of childhood Batten disease, a rare and fatal neurological disease. The key may be to inject viruses that carry the codes for the gene products into the ventricles, which are fluid-filled compartments in the center of the brain that serve as a plumbing system. The study, published online on November 11, 2015 in Science Translational Medicine, was partially funded by the NIH. The article is titled “AAV Gene Transfer Delays Disease Onset in a TPP1-Deficient Canine Model of the Late Infantile Form of Batten Disease.” Batten disease is an inherited, autosomal recessive lysosomal storage disorder, one of a group of diseases that causes problems with a cell's ability to break down specific molecules. Early symptoms may include vision loss, subtle changes in personality and behavior, slow learning, clumsiness, or stumbling. Eventually, the children become blind, bedridden, and demented, and typically die within the first decade of their lives. Currently there are no effective treatments. "Our study opens up the possibility of a one-and-done treatment for this form of Batten disease," said Beverly Davidson (photo), Ph.D., Director of the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at Children's Hospital of Philadelphia (CHOP) and the senior author of the study. Working with scientists at the University of Missouri-Columbia, Dr. Davidson's CHOP team focused on the late infantile form of the disease that starts in children 2 to 4 years of age and is most often caused by mutations in the gene for the soluble lysosomal enzyme tripeptidyl peptidase 1 (TPP1), an enzyme that degrades proteins.
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