Research ArticleGene Therapy

AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease

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Science Translational Medicine  11 Nov 2015:
Vol. 7, Issue 313, pp. 313ra180
DOI: 10.1126/scitranslmed.aac6191

Gene therapy for Batten disease

Repeated enzyme replacement therapy via infusion of the enzyme into blood vessels is an established treatment modality for many lysosomal storage diseases but not for those with significant brain involvement. In new work, Katz and colleagues test gene delivery of the missing enzyme to cells that line the fluid-filled spaces of the brain and measure secretion of the enzyme into the cerebrospinal fluid. Using a dog model of a lysosomal storage disease, they show that this strategy delayed disease onset, extended life span, and protected dogs from early cognitive decline, suggesting that this approach could improve the lives of children suffering from the same or similar diseases.

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