Sustained Correction of a Murine Model of Phenylketonuria following a Single Intravenous Administration of AAVHSC15-PAH
Seemin Seher Ahmed, Hillard Rubin, Minglun Wang, Deiby Faulkner, Arnold Sengooba, Serena Dollive, Nancy Avila, Jeff L. Ellsworth, Diana Lamppu, Maria Lobikin, Jason Lotterhand, Laura Adamson-Small, Teresa L. Wright, Albert Seymour, Omar L. Francone
Abstract
mice. Brain levels of phenylalanine and the downstream serotonin metabolite 5-hydroxyindoleacetic acid were restored. In addition, the coat color of treated mice darkened following treatment, indicating restoration of the phenylalanine metabolic pathway. Taken together, these data support the potential of an AAVHSC15-based gene therapy as an investigational therapeutic for phenylketonuria patients.
Topics & Concepts
PhenylalaninePhenylalanine hydroxylasePhenylketonuriasTyrosineInborn error of metabolismTransgeneTyrosine hydroxylaseTyrosine aminotransferaseEnzymePhenotypeInternal medicineBiologyBiochemistryMedicineChemistryEndocrinologyPharmacologyGeneAmino acidEnzyme inducerMetabolism and Genetic DisordersVirus-based gene therapy researchRNA modifications and cancer