rAAV Gene Therapy in a Canavan's Disease Mouse Model Reveals Immune Impairments and an Extended Pathology Beyond the Central Nervous System

Mol Ther. 2016 Jun;24(6):1030-1041. doi: 10.1038/mt.2016.68. Epub 2016 Apr 4.

Abstract

Aspartoacylase (AspA) gene mutations cause the pediatric lethal neurodegenerative Canavan disease (CD). There is emerging promise of successful gene therapy for CD using recombinant adeno-associated viruses (rAAVs). Here, we report an intracerebroventricularly delivered AspA gene therapy regime using three serotypes of rAAVs at a 20-fold reduced dose than previously described in AspA(-/-) mice, a bona-fide mouse model of CD. Interestingly, central nervous system (CNS)-restricted therapy prolonged survival over systemic therapy in CD mice but failed to sustain motor functions seen in systemically treated mice. Importantly, we reveal through histological and functional examination of untreated CD mice that AspA deficiency in peripheral tissues causes morphological and functional abnormalities in this heretofore CNS-defined disorder. We demonstrate for the first time that AspA deficiency, possibly through excessive N-acetyl aspartic acid accumulation, elicits both a peripheral and CNS immune response in CD mice. Our data establish a role for peripheral tissues in CD pathology and serve to aid the development of more efficacious and sustained gene therapy for this disease.

Publication types

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

MeSH terms

  • Amidohydrolases / genetics*
  • Animals
  • Canavan Disease / genetics
  • Canavan Disease / pathology
  • Canavan Disease / therapy*
  • Central Nervous System / metabolism
  • Central Nervous System / pathology*
  • Dependovirus / genetics
  • Disease Models, Animal
  • Genetic Therapy / methods*
  • Genetic Vectors / administration & dosage
  • Humans
  • Mice
  • Organ Specificity
  • Survival Analysis
  • Treatment Outcome

Substances

  • Amidohydrolases
  • aspartoacylase