Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors.

@article{Fraites2002CorrectionOT,
  title={Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors.},
  author={Thomas J Fraites and Mary R Schleissing and R. Andrew Shanely and Glenn Walter and Denise A Cloutier and Irene Zolotukhin and Daniel F. Pauly and Nina Raben and Paul H. Plotz and Scott K. Powers and Paul D. Kessler and Barry Byrne},
  journal={Molecular therapy : the journal of the American Society of Gene Therapy},
  year={2002},
  volume={5 5 Pt 1},
  pages={571-8}
}
Pompe disease is a lysosomal storage disease caused by the absence of acid alpha-1,4 glucosidase (GAA). The pathophysiology of Pompe disease includes generalized myopathy of both cardiac and skeletal muscle. We sought to use recombinant adeno-associated virus (rAAV) vectors to deliver functional GAA genes in vitro and in vivo. Myotubes and fibroblasts from Pompe patients were transduced in vitro with rAAV2-GAA. At 14 days postinfection, GAA activities were at least fourfold higher than in their… CONTINUE READING