Gel-mediated delivery of AAV1 vectors corrects ventilatory function in Pompe mice with established disease

Mol Ther. 2010 Mar;18(3):502-10. doi: 10.1038/mt.2009.305. Epub 2010 Jan 26.

Abstract

Pompe disease is a muscular dystrophy that results in respiratory insufficiency. We characterized the outcomes of targeted delivery of recombinant adeno-associated virus serotype 1 (rAAV2/1) vector to diaphragms of Pompe mice with varying stages of disease progression. We observed significant improvement in diaphragm contractile strength in mice treated at 3 months of age that is sustained at least for 1 year and enhanced contractile strength in mice treated at 9 and 21 months of age, measured 3 months post-treatment. Ventilatory parameters including tidal volume/inspiratory time ratio, minute ventilation/expired CO2 ratio, and peak inspiratory airflow were significantly improved in mice treated at 3 months and tested at 6 months. Despite early improvement, mice treated at 3 months and tested at 1 year had diminished normoxic ventilation, potentially due to attenuation of correction over time or progressive degeneration of nontargeted accessory tissues. However, for all rAAV2/1-treated mice (treated at 3, 9, and 21 months, assayed 3 months later; treated at 3 months, assayed at 1 year), minute ventilation and peak inspiratory flows were significantly improved during respiratory challenge. These results demonstrate that gel-mediated delivery of rAAV2/1 vectors can significantly augment ventilatory function at initial and late phases of disease in a model of muscular dystrophy.

Publication types

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

MeSH terms

  • Animals
  • Carbon Dioxide / chemistry
  • Dependovirus / genetics*
  • Disease Progression
  • Gels
  • Gene Transfer Techniques*
  • Genetic Therapy / methods*
  • Genetic Vectors
  • Glycogen Storage Disease Type II / genetics*
  • Glycogen Storage Disease Type II / therapy*
  • Mice
  • Mice, Transgenic
  • Muscle Contraction
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / therapy*
  • Respiration*
  • Time Factors

Substances

  • Gels
  • Carbon Dioxide