Intrathecal gene therapy corrects CNS pathology in a feline model of mucopolysaccharidosis I

Mol Ther. 2014 Dec;22(12):2018-2027. doi: 10.1038/mt.2014.135. Epub 2014 Jul 16.

Abstract

Enzyme replacement therapy has revolutionized the treatment of the somatic manifestations of lysosomal storage diseases (LSD), although it has been ineffective in treating central nervous system (CNS) manifestations of these disorders. The development of neurotrophic vectors based on novel serotypes of adeno-associated viruses (AAV) such as AAV9 provides a potential platform for stable and efficient delivery of enzymes to the CNS. We evaluated the safety and efficacy of intrathecal delivery of AAV9 expressing α-l-iduronidase (IDUA) in a previously described feline model of mucopolysaccharidosis I (MPS I). A neurological phenotype has not been defined in these animals, so our analysis focused on the biochemical and histological CNS abnormalities characteristic of MPS I. Five MPS I cats were dosed with AAV9 vector at 4-7 months of age and followed for 6 months. Treated animals demonstrated virtually complete correction of biochemical and histological manifestations of the disease throughout the CNS. There was a range of antibody responses against IDUA in this cohort which reduced detectable enzyme without substantially reducing efficacy; there was no evidence of toxicity. This first demonstration of the efficacy of intrathecal gene therapy in a large animal model of a LSD should pave the way for translation into the clinic.

Publication types

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

MeSH terms

  • Animals
  • Cats*
  • Central Nervous System / pathology*
  • Dependovirus / enzymology
  • Dependovirus / genetics
  • Disease Models, Animal*
  • Genetic Therapy / methods*
  • Genetic Vectors / administration & dosage
  • Iduronidase / blood*
  • Iduronidase / cerebrospinal fluid*
  • Injections, Spinal
  • Mucopolysaccharidosis I / enzymology
  • Mucopolysaccharidosis I / genetics
  • Mucopolysaccharidosis I / pathology
  • Mucopolysaccharidosis I / therapy*
  • Organ Specificity

Substances

  • Iduronidase