@article{10cc23db7da84d81966514699d302542,
title = "Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation",
abstract = "Reported results demonstrated the effectiveness and safety of AAV9/AGA in Aga−/− mice, providing strong evidence that AAV9/AGA gene therapy should be considered for human translation. Moreover, the direct comparison of the efficacy of an intravenous versus intrathecal approach should greatly inform the development of similar treatments for other related disorders.",
keywords = "AAV, AGA, AGU, CNS, adeno-associated virus, aspartylglucosaminidase, aspartylglucosaminuria, central nervous system, gene therapy, lysosomal storage disease",
author = "Xin Chen and Sarah Snanoudj-Verber and Laura Pollard and Yuhui Hu and Cathey, {Sara S.} and Ritva Tikkanen and Gray, {Steven J.}",
note = "Funding Information: This study was supported by the Rare Trait Hope Fund (USA) , the UNC TraCS Institute (USA, 550KR121511), and AFM-T{\'e}l{\'e}thon (France, Award 19715) to S.J.G. We thank Jackson Laboratories for providing the AGA +/− breeders, the UNC Vector Core facility for producing some vectors used in these studies, and Greenwood Genetics Center for performing the AGA substrate assays. We thank the members at the UNC Center for Animal MRI (CAMRI) and Biomedical Research Imaging Center (BRIC) for technical assistance, supported in part by the Bowles Center for Alcohol Studies ( P60 AA011605 ), the Lineberger Comprehensive Center ( P30 CA016086 ), and the Carolina Institute for Developmental Disabilities ( U54 HD079124 ). We also acknowledge Dr. Thomas Dong for his help in sample preparation, Dr. Mary Wight-Carter for her toxicity evaluation and histopathological safety report, Dr. Anna Azvolinsky for her support in manuscript preparation, and Dr. Stuart Cobb for his insightful manuscript review. Funding Information: This study was supported by the Rare Trait Hope Fund (USA), the UNC TraCS Institute(USA, 550KR121511), and AFM-T?l?thon (France, Award 19715) to S.J.G. We thank Jackson Laboratories for providing the AGA+/? breeders, the UNC Vector Core facility for producing some vectors used in these studies, and Greenwood Genetics Center for performing the AGA substrate assays. We thank the members at the UNC Center for Animal MRI (CAMRI) and Biomedical Research Imaging Center (BRIC) for technical assistance, supported in part by the Bowles Center for Alcohol Studies (P60 AA011605), the Lineberger Comprehensive Center (P30 CA016086), and the Carolina Institute for Developmental Disabilities (U54 HD079124). We also acknowledge Dr. Thomas Dong for his help in sample preparation, Dr. Mary Wight-Carter for her toxicity evaluation and histopathological safety report, Dr. Anna Azvolinsky for her support in manuscript preparation, and Dr. Stuart Cobb for his insightful manuscript review. X.C. and S.J.G. designed the experiments, coordinated studies with collaborators and core facilities, and wrote the manuscript. X.C. S.S.-V. L.P. and Y.H. performed the experiments. S.S.C. served as a consultant on this project. X.C. analyzed all data and prepared all figures for the manuscript. L.P. and Y.H. helped writing the Materials and Methods section. R.T. advised the project, shared protocols, and reviewed the manuscript. S.J.G. oversaw all activities related to the project and acquired all funding for the work. S.J.G. has received patent royalties for intellectual property (IP) licensed to Asklepios Biophama, but this IP was not used in this study. S.J.G. is an inventor of the AGA vector design and has received patent royalties on this technology from Neurogene.",
year = "2020",
doi = "10.1016/j.ymthe.2020.11.012",
language = "English (US)",
journal = "Molecular Therapy",
issn = "1525-0016",
publisher = "Nature Publishing Group",
}