A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in canavan mice
Ahmed, Seemin Seher ; Li, Huapeng ; Cao, Chunyan ; Sikoglu, Elif M. ; Denninger, Andrew R. ; Su, Qin ; Eaton, Samuel ; Liso Navarro, Ana A. ; Xie, Jun ; Szucs, Sylvia ... show 7 more
Citations
Student Authors
Faculty Advisor
Academic Program
Document Type
Publication Date
Subject Area
Embargo Expiration Date
Link to Full Text
Abstract
Canavan's disease (CD) is a fatal pediatric leukodystrophy caused by mutations in aspartoacylase (AspA) gene. Currently, there is no effective treatment for CD; however, gene therapy is an attractive approach to ameliorate the disease. Here, we studied progressive neuropathology and gene therapy in short-lived (≤ 1 month) AspA(-/-) mice, a bona-fide animal model for the severest form of CD. Single intravenous (IV) injections of several primate-derived recombinant adeno-associated viruses (rAAVs) as late as postnatal day 20 (P20) completely rescued their early lethality and alleviated the major disease symptoms, extending survival in P0-injected rAAV9 and rAAVrh8 groups to as long as 2 years thus far. We successfully used microRNA (miRNA)-mediated post-transcriptional detargeting for the first time to restrict therapeutic rAAV expression in the central nervous system (CNS) and minimize potentially deleterious effects of transgene overexpression in peripheral tissues. rAAV treatment globally improved CNS myelination, although some abnormalities persisted in the content and distribution of myelin-specific and -enriched lipids. We demonstrate that systemically delivered and CNS-restricted rAAVs can serve as efficacious and sustained gene therapeutics in a model of a severe neurodegenerative disorder even when administered as late as P20.
Source
Ahmed SS, Li H, Cao C, Sikoglu EM, Denninger AR, Su Q, Eaton S, Liso Navarro AA, Xie J, Szucs S, Zhang H, Moore C, Kirschner DA, Seyfried TN, Flotte TR, Matalon R, Gao G. A single intravenous rAAV injection as late as P20 achieves efficacious and sustained CNS Gene therapy in canavan mice. Mol Ther. 2013 Dec;21(12):2136-47. doi: 10.1038/mt.2013.138. Link to article on publisher's site
Year of Medical School at Time of Visit
Sponsors
Dates of Travel
DOI
Permanent Link to this Item
PubMed ID
Other Identifiers
Notes
First author Seemin Seher Ahmed is a doctoral student in the Interdisciplinary Graduate Program in the Graduate School of Biomedical Sciences (GSBS) at UMass Medical School.