Safety and Biodistribution Evaluation of rAAV2tYF-CB-hRS1, a Recombinant Adeno-Associated Virus Vector Expressing Retinoschisin, in RS1-Deficient Mice

Hum Gene Ther Clin Dev. 2015 Sep;26(3):177-84. doi: 10.1089/humc.2015.077.

Abstract

Applied Genetic Technologies Corporation is developing a recombinant adeno-associated virus (rAAV) vector for treatment of X-linked retinoschisis (XLRS), an inherited retinal disease characterized by splitting (schisis) of the layers of the retina, which causes poor vision. We report here results of a study evaluating the safety and biodistribution of rAAV2tYF-CB-hRS1 in RS1-deficient mice. Three groups of male RS1-deficient mice received an intravitreal injection in one eye of either vehicle, or rAAV2tYF-CB-hRS1 at one of two dose levels (1 × 10(9) or 4 × 10(9) vg/eye) and were sacrificed 30 or 90 days later. The intravitreal injection procedure was well tolerated in all groups, with no test article-related changes in ophthalmic examinations. Two low-dose vector-treated animals had minimally to mildly higher white blood cell counts at day 90. There were no other intergroup differences in hematology or clinical chemistry analyses and no test article-related gross necropsy observations. Microscopic pathology results demonstrated minimal to slight mononuclear cell infiltrates in 80% of vector-injected eyes at day 30 and 20% of vector-injected eyes at day 90. Immunohistochemistry studies showed RS1 labeling of the retina in all vector-treated eyes. At the day 90 sacrifice, there was a decrease in the severity of splitting/disorganization of the inner nuclear layer of the retina in high-dose vector-treated eyes. Biodistribution studies demonstrated vector DNA in vector-injected eyes but not in any nonocular tissue. These results support the use of rAAV2tYF-CB-hRS1 in clinical studies in patients with XLRS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antibodies, Viral / blood
  • Antibodies, Viral / immunology
  • Cell Line
  • Dependovirus / genetics*
  • Disease Models, Animal
  • Eye Proteins / genetics*
  • Gene Expression*
  • Genes, Reporter
  • Genetic Vectors / administration & dosage
  • Genetic Vectors / adverse effects
  • Genetic Vectors / genetics*
  • Genetic Vectors / pharmacokinetics*
  • Humans
  • Immunohistochemistry
  • Intravitreal Injections
  • Male
  • Mice
  • Mice, Knockout
  • Retina / metabolism
  • Retina / pathology
  • Retinoschisis / genetics*
  • Retinoschisis / therapy*
  • T-Lymphocytes / immunology
  • T-Lymphocytes / metabolism
  • Time Factors
  • Tissue Distribution
  • Toxicity Tests
  • Transgenes*

Substances

  • Antibodies, Viral
  • Eye Proteins
  • RS1 protein, human