Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate

Hum Mol Genet. 2010 Jan 1;19(1):147-58. doi: 10.1093/hmg/ddp475.

Abstract

Metachromatic leukodystrophy (MLD) is a lethal neurodegenerative disease caused by a deficiency in the lysosomal arylsulfatase A (ARSA) enzyme leading to the accumulation of sulfatides in glial and neuronal cells. We previously demonstrated in ARSA-deficient mice that intracerebral injection of a serotype 5 adeno-associated vector (AAV) encoding human ARSA corrects the biochemical, neuropathological and behavioral abnormalities. However, before considering a potential clinical application, scaling-up issues should be addressed in large animals. Therefore, we performed intracerebral injection of the same AAV vector (total dose of 3.8 x 10(11) or 1.9 x 10(12) vector genome, three sites of injection in the right hemisphere, two deposits per site of injection) into three selected areas of the centrum semiovale white matter, or in the deep gray matter nuclei (caudate nucleus, putamen, thalamus) of six non-human primates to evaluate vector distribution, as well as expression and activity of human ARSA. The procedure was perfectly tolerated, without any adverse effect or change in neurobehavioral examination. AAV vector was detected in a brain volume of 12-15 cm(3) that corresponded to 37-46% of the injected hemisphere. ARSA enzyme was expressed in multiple interconnected brain areas over a distance of 22-33 mm. ARSA activity was increased by 12-38% in a brain volume that corresponded to 50-65% of injected hemisphere. These data provide substantial evidence for potential benefits of brain gene therapy in patients with MLD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antibodies / blood
  • Antibodies / cerebrospinal fluid
  • Cerebellum / metabolism
  • Cerebroside-Sulfatase / genetics*
  • Cranial Nerves / metabolism
  • Dependovirus / genetics*
  • Diffusion
  • Gene Transfer Techniques*
  • Genetic Vectors / administration & dosage*
  • Genetic Vectors / pharmacokinetics
  • Humans
  • Inflammation / pathology
  • Injections, Intraventricular
  • Organ Size
  • Primates / genetics*
  • Protein Transport
  • Spinal Cord / metabolism
  • Stereotaxic Techniques

Substances

  • Antibodies
  • Cerebroside-Sulfatase