Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes

Mol Ther. 2011 Feb;19(2):251-9. doi: 10.1038/mt.2010.265. Epub 2010 Dec 7.

Abstract

Recent trials in patients with neurodegenerative diseases documented the safety of gene therapy based on adeno-associated virus (AAV) vectors deposited into the brain. Inborn errors of the metabolism are the most frequent causes of neurodegeneration in pre-adulthood. In Sanfilippo syndrome, a lysosomal storage disease in which heparan sulfate oligosaccharides accumulate, the onset of clinical manifestation is before 5 years. Studies in the mouse model showed that gene therapy providing the missing enzyme α-N-acetyl-glucosaminidase to brain cells prevents neurodegeneration and improves behavior. We now document safety and efficacy in affected dogs. Animals received eight deposits of a serotype 5 AAV vector, including vector prepared in insect Sf9 cells. As shown previously in dogs with the closely related Hurler syndrome, immunosuppression was necessary to prevent neuroinflammation and elimination of transduced cells. In immunosuppressed dogs, vector was efficiently delivered throughout the brain, induced α-N-acetyl-glucosaminidase production, cleared stored compounds and storage lesions. The suitability of the procedure for clinical application was further assessed in Hurler dogs, providing information on reproducibility, tolerance, appropriate vector type and dosage, and optimal age for treatment in a total number of 25 treated dogs. Results strongly support projects of human trials aimed at assessing this treatment in Sanfilippo syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylglucosaminidase / genetics
  • Animals
  • Brain / metabolism*
  • Brain / pathology
  • Dependovirus / genetics
  • Disease Models, Animal
  • Dogs
  • Genetic Therapy / adverse effects
  • Genetic Therapy / methods*
  • Genetic Vectors / genetics
  • Mucopolysaccharidosis I / therapy*
  • Mucopolysaccharidosis III / therapy*
  • Polymerase Chain Reaction

Substances

  • alpha-N-acetyl-D-glucosaminidase
  • Acetylglucosaminidase