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Gene Ther. 2016 Feb;23(2):129-34. doi: 10.1038/gt.2015.107. Epub 2015 Dec 24.

Helper-dependent adenoviral vectors for liver-directed gene therapy of primary hyperoxaluria type 1.

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Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.
Department of Translational Medicine, Federico II University of Naples, Naples, Italy.


Primary hyperoxaluria type 1 (PH1) is an inborn error of liver metabolism due to deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), which catalyzes conversion of glyoxylate into glycine. AGT deficiency results in overproduction of oxalate that ultimately leads to end-stage renal disease and death. Organ transplantation as either preemptive liver transplantation or combined liver/kidney transplantation is the only available therapy to prevent disease progression. Gene therapy is an attractive option to provide an alternative treatment for PH1. Toward this goal, we investigated helper-dependent adenoviral (HDAd) vectors for liver-directed gene therapy of PH1. Compared with saline controls, AGT-deficient mice injected with an HDAd encoding the AGT under the control of a liver-specific promoter showed a significant reduction of hyperoxaluria and less increase of urinary oxalate following challenge with ethylene glycol, a precursor of glyoxylate. These studies may thus pave the way to clinical application of HDAd for PH1 gene therapy.

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