Modified Gene Transfer Approach Evaluated in Model of Brain Disease

Abstract

Investigators at the Children’s Hospital of Philadelphia and their colleagues tested an alternative gene therapy application to delay symptoms and extend life span in a canine model of Batten disease, a fatal inherited neurodegenerative disorder (Katz ML et al. Sci Transl Med. 2015;7[313]:313ra180). Most children with the late infantile form of Batten disease carry mutations in the gene that encodes tripeptidyl peptidase 1 (TPP1), a lysosomal enzyme that enables neurons to recycle cellular waste. Children may develop normally up to ages 2 to 4 years but subsequently experience motor deterioration, mental decline, seizures, and visual deficits, with death usually occurring within the first decade of life.