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Abstract #3903

Assessment of gene therapy efficacy by neurochemical profiling

Ivan Tkac1, Igor Nastrasil2, Kanut Laoharawee3, Kelly M Podetz-Pedersen3, Kelley F Kitto4, Carolyn A Fairbanks5, Walter C Low6, Karen Kozarsky7, and R Scott McIvor3

1Center for Magnetic Resonance Research, University of Minnesota, Minneapolis, MN, United States, 2Dept. of Pediatrics, University of Minnesota, Minneapolis, MN, United States, 3Dept. of Genetics and Cell Biology, University of Minnesota, Minneapolis, MN, United States, 4Dept. of Neuroscience, University of Minnesota, Minneapolis, MN, United States, 5Dept. of Pharmaceutics, University of Minnesota, Minneapolis, MN, United States, 6Dept. of Neurosurgery, University of Minnesota, Minneapolis, MN, United States, 7REGENXBIO Inc., Rockville, MD, United States

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare X-linked recessive lysosomal disorder caused by defective iduronate-2-sulfatase (IDS). Enzyme replacement is the only FDA–approved therapy available for MPS II, but it does not improve neurologic outcomes in MPS II patients. The 1H MRS data acquired from the hippocampus and cerebellum of untreated and AAV9-IDS treated MPS II mice and heterozygote controls clearly demonstrate that the direct transfer of the missing IDS gene to the CNS at 12 weeks of age prevented neurochemical alternations typical for MPS II at 9 months of age.

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