Key result
Systemic AAV therapy corrects circulating propionylcarnitine and methyl citrate in a propionic acidemia model.
Why the study?
Current treatment options for propionic acidemia are limited and the effects of tissue-specific gene therapy on systemic disease correction are unclear.
Population
Hypomorphic Pcca(-/-)(A138T) mouse model with 2% wild-type enzyme activity
Comparison
Systemic gene therapy with muscle-biased AAV1, liver-biased AAV8, broadly tropic AAVrh10, and targeted AAV1-MCK-PCCA vs AAV8-TTR-PCCA
Design
Preclinical study
Follow-up
Long-term
Authors
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AAV gene therapy corrects metabolites in propionic acidemia models; leaves open translation to human trials.
Targeted gene therapy using AAV vectors may be a viable alternative to liver transplantation for propionic acidemia by correcting circulating metabolites.
Guenzel et al. (2014) studied Propionic acidemia. Adeno-associated virus (AAV) gene therapy was evaluated on Circulating propionylcarnitine (C3) and methyl citrate. Systemic therapy with AAV1, AAV8, and AAVrh10 mediated significant biochemical corrections in circulating propionylcarnitine and methyl citrate in a hypomorphic model of propionic acidemia.
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