Science Translational Medicine, via PRNewswire

November 12, 2015

Researchers have taken a significant step forward in developing gene therapy against a fatal neurodegenerative disease that strikes children. By delivering a working version of a gene to produce a key enzyme that is lacking in Batten disease, the scientists delayed symptoms and extended lifespan in dogs with a comparable disease.

The paper appears online today in Science Translational Medicine.

"One treatment of gene therapy gave these dogs a remarkable improvement in their quality of life," said Beverly L. Davidson, Ph.D., director of the Raymond G. Perelman Center for Cellular and Molecular Therapeutics at The Children's Hospital of Philadelphia. "If the outcome is equally profound in children with the same enzyme deficiency, this would represent a great benefit for affected children and their families."

Davidson's team focused on the rare, inherited childhood disorder, late infantile neuronal ceroid lipofuscinosis, also called Batten disease. Batten disease is one of a group of inherited diseases called lysosomal storage disorders, which impair the body's ability to dispose of cellular waste products. Having a naturally occurring disease that mimics Batten disease, the dogs used in this study provide a biological model for researching human disease.

In most children with the late infantile form of Batten disease and the affected dogs, mutations in the TPP1 gene disable the body's ability to produce the enzyme tripeptidyl peptidase 1 (TPP1), which normally allows brain cells to recycle cellular waste. The abnormal waste buildup erodes toddlers' abilities to walk, talk, think, and see. Symptoms and seizures usually appear between ages two and four, and the disease progresses, with most children dying by age 10.

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