Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates

Mol Ther. 2015 Mar;23(3):414-22. doi: 10.1038/mt.2014.240. Epub 2014 Dec 17.

Abstract

G(M2) gangliosidoses are severe neurodegenerative disorders resulting from a deficiency in β-hexosaminidase A activity and lacking effective therapies. Using a Sandhoff disease (SD) mouse model (Hexb(-/-)) of the G(M2) gangliosidoses, we tested the potential of systemically delivered adeno-associated virus 9 (AAV9) expressing Hexb cDNA to correct the neurological phenotype. Neonatal or adult SD and normal mice were intravenously injected with AAV9-HexB or -LacZ and monitored for serum β-hexosaminidase activity, motor function, and survival. Brain G(M2) ganglioside, β-hexosaminidase activity, and inflammation were assessed at experimental week 43, or an earlier humane end point. SD mice injected with AAV9-LacZ died by 17 weeks of age, whereas all neonatal AAV9-HexB-treated SD mice survived until 43 weeks (P < 0.0001) with only three exhibiting neurological dysfunction. SD mice treated as adults with AAV9-HexB died between 17 and 35 weeks. Neonatal SD-HexB-treated mice had a significant increase in brain β-hexosaminidase activity, and a reduction in G(M2) ganglioside storage and neuroinflammation compared to adult SD-HexB- and SD-LacZ-treated groups. However, at 43 weeks, 8 of 10 neonatal-HexB injected control and SD mice exhibited liver or lung tumors. This study demonstrates the potential for long-term correction of SD and other G(M2) gangliosidoses through early rAAV9 based systemic gene therapy.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Animals
  • Animals, Newborn
  • Brain / enzymology
  • Brain / pathology
  • Dependovirus / genetics*
  • Disease Models, Animal
  • Female
  • G(M2) Ganglioside / metabolism*
  • Gene Expression
  • Genetic Therapy / methods*
  • Genetic Vectors / administration & dosage*
  • Genetic Vectors / adverse effects
  • Inflammation / genetics
  • Inflammation / mortality
  • Inflammation / pathology
  • Inflammation / therapy
  • Injections, Intravenous
  • Lac Operon
  • Liver Neoplasms / etiology
  • Liver Neoplasms / pathology
  • Lung Neoplasms / etiology
  • Lung Neoplasms / pathology
  • Lysosomes / enzymology
  • Lysosomes / pathology
  • Male
  • Mice
  • Mice, Knockout
  • Motor Activity / genetics
  • Sandhoff Disease / genetics
  • Sandhoff Disease / mortality
  • Sandhoff Disease / pathology
  • Sandhoff Disease / therapy*
  • Survival Analysis
  • beta-Hexosaminidase beta Chain / genetics*
  • beta-Hexosaminidase beta Chain / metabolism

Substances

  • G(M2) Ganglioside
  • beta-Hexosaminidase beta Chain