Search Results - "Harding, Cary"

Sepiapterin: a potential new therapy for phenylketonuria by Harding, Cary O

“…A previous open-label, phase 2, randomised, controlled, dose-finding trial showed decreased blood Phe concentration after oral sepiapterin administration.6…”
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Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs by Kang, Eunju, Wang, Xinjian, Tippner-Hedges, Rebecca, Ma, Hong, Folmes, Clifford D.L., Gutierrez, Nuria Marti, Lee, Yeonmi, Van Dyken, Crystal, Ahmed, Riffat, Li, Ying, Koski, Amy, Hayama, Tomonari, Luo, Shiyu, Harding, Cary O., Amato, Paula, Jensen, Jeffrey, Battaglia, David, Lee, David, Wu, Diana, Terzic, Andre, Wolf, Don P., Huang, Taosheng, Mitalipov, Shoukhrat

“…The genetic integrity of iPSCs is an important consideration for therapeutic application. In this study, we examine the accumulation of somatic mitochondrial…”
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Complete correction of murine phenylketonuria by selection-enhanced hepatocyte transplantation by Vonada, Anne, Wakefield, Leslie, Martinez, Michael, Harding, Cary O, Grompe, Markus, Tiyaboonchai, Amita

“…Hepatocyte transplantation for genetic liver diseases has several potential advantages over gene therapy. However, the low efficiency of cell engraftment has…”
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State-of-the-Art 2019 on Gene Therapy for Phenylketonuria by Grisch-Chan, Hiu Man, Schwank, Gerald, Harding, Cary O, Thöny, Beat

“…Phenylketonuria (PKU) is considered to be a paradigm for a monogenic metabolic disorder but was never thought to be a primary application for human gene…”
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State‐of‐the‐art 2023 on gene therapy for phenylketonuria by Martinez, Michael, Harding, Cary O., Schwank, Gerald, Thöny, Beat

“…Phenylketonuria (PKU) or hyperphenylalaninemia is considered a paradigm for an inherited (metabolic) liver defect and is, based on murine models that replicate…”
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Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial by Longo, Nicola, MD, Harding, Cary O, MD, Burton, Barbara K, MD, Grange, Dorothy K, MD, Vockley, Jerry, MD, Wasserstein, Melissa, MD, Rice, Gregory M, MD, Dorenbaum, Alejandro, MD, Neuenburg, Jutta K, MD, Musson, Donald G, PhD, Gu, Zhonghua, PhD, Sile, Saba, MD

“…Summary Background Phenylketonuria is an inherited disease caused by impaired activity of phenylalanine hydroxylase, the enzyme that converts phenylalanine to…”
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Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice by Winn, Shelley R., Scherer, Tanja, Thöny, Beat, Ying, Ming, Martinez, Aurora, Weber, Sydney, Raber, Jacob, Harding, Cary O.

“…Central nervous system (CNS) deficiencies of the monoamine neurotransmitters dopamine and serotonin have been implicated in the pathophysiology of…”
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Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM) by Thomas, Janet, Levy, Harvey, Amato, Stephen, Vockley, Jerry, Zori, Roberto, Dimmock, David, Harding, Cary O., Bilder, Deborah A., Weng, Haoling H., Olbertz, Joy, Merilainen, Markus, Jiang, Joy, Larimore, Kevin, Gupta, Soumi, Gu, Zhonghua, Northrup, Hope

“…Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) deficiency that results in phenylalanine (Phe) accumulation. Pegvaliase, PEGylated…”
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Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial data by Rohr, Fran, Burton, Barbara, Dee, Anne, Harding, Cary O., Lilienstein, Joshua, Lindstrom, Kristin, MacLeod, Erin, Rose, Sarah, Singh, Rani, van Calcar, Sandra, Whitehall, Kaleigh

“…Phenylketonuria (PKU), a genetic disorder characterized by phenylalanine hydroxylase (PAH) deficiency and phenylalanine (Phe) accumulation, is primarily…”
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Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial by Gillingham, Melanie B., Heitner, Stephen B., Martin, Julie, Rose, Sarah, Goldstein, Amy, El-Gharbawy, Areeg Hassan, Deward, Stephanie, Lasarev, Michael R., Pollaro, Jim, DeLany, James P., Burchill, Luke J., Goodpaster, Bret, Shoemaker, James, Matern, Dietrich, Harding, Cary O., Vockley, Jerry

“…Background Observational reports suggest that supplementation that increases citric acid cycle intermediates via anaplerosis may have therapeutic advantages…”
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Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency by Elizondo, Gabriela, Saini, Ajesh, Gonzalez de Alba, Cesar, Gregor, Ashley, Harding, Cary O., Gillingham, Melanie B., Vinocur, Jeffrey M.

“…Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD) is a rare fatty acid oxidation disorder characterized by recurrent episodes of metabolic…”
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Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial by Harding, Cary O., Amato, R. Stephen, Stuy, Mary, Longo, Nicola, Burton, Barbara K., Posner, John, Weng, Haoling H., Merilainen, Markus, Gu, Zhonghua, Jiang, Joy, Vockley, Jerry

“…Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU). This…”
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Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD by Elizondo, Gabriela, Matern, Dietrich, Vockley, Jerry, Harding, Cary O., Gillingham, Melanie B.

“…The plasma acylcarnitine profile is frequently used as a biochemical assessment for follow-up in diagnosed patients with fatty acid oxidation disorders…”
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iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector by DeVine, Tiffany, Elizondo, Gabriela, Gaston, Garen, Babcock, Shannon J, Matern, Dietrich, Shchepinov, Mikhail S, Pennesi, Mark E, Harding, Cary O, Gillingham, Melanie B

“…Progressive choroid and retinal pigment epithelial (RPE) degeneration causing vision loss is a unique characteristic of long-chain 3-hydroxyacyl-CoA…”
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Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria by Longo, Nicola, Dimmock, David, Levy, Harvey, Viau, Krista, Bausell, Heather, Bilder, Deborah A., Burton, Barbara, Gross, Christel, Northrup, Hope, Rohr, Fran, Sacharow, Stephanie, Sanchez-Valle, Amarilis, Stuy, Mary, Thomas, Janet, Vockley, Jerry, Zori, Roberto, Harding, Cary O.

“…Purpose Phenylketonuria (PKU) is a rare metabolic disorder that requires life-long management to reduce phenylalanine (Phe) concentrations within the…”
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Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs) by DeLany, James P., Horgan, Angela, Gregor, Ashley, Vockley, Jerry, Harding, Cary O., Gillingham, Melanie B.

“…The basis of medical nutrition therapy for patients with LC-FAODs is to provide adequate energy to maintain anabolism and prevent catabolism. In practice,…”
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AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria by Richards, Daelyn Y., Winn, Shelley R., Dudley, Sandra, Nygaard, Sean, Mighell, Taylor L., Grompe, Markus, Harding, Cary O.

“…Phenylketonuria (PKU) due to recessively inherited phenylalanine hydroxylase (PAH) deficiency results in hyperphenylalaninemia, which is toxic to the central…”
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Therapeutic liver repopulation by transient acetaminophen selection of gene-modified hepatocytes by Vonada, Anne, Tiyaboonchai, Amita, Nygaard, Sean, Posey, Jeffrey, Peters, Alexander Mack, Winn, Shelley R, Cantore, Alessio, Naldini, Luigi, Harding, Cary O, Grompe, Markus

“…Gene therapy by integrating vectors is promising for monogenic liver diseases, especially in children where episomal vectors remain transient. However,…”
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Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice by Winn, Shelley R., Dudley, Sandra, Scherer, Tanja, Rimann, Nicole, Thöny, Beat, Boutros, Sydney, Krenik, Destine, Raber, Jacob, Harding, Cary O.

“…Existing phenylalanine hydroxylase (PAH)-deficient mice strains are useful models of untreated or late-treated human phenylketonuria (PKU), as most…”
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Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing by Kaiser, Robert A, Carlson, Daniel F, Allen, Kari L, Webster, Dennis A, VanLith, Caitlin J, Nicolas, Clara T, Hillin, Lori G, Yu, Yue, Kaiser, Catherine W, Wahoff, William R, Hickey, Raymond D, Watson, Adrienne L, Winn, Shelley R, Thöny, Beat, Kern, Douglas R, Harding, Cary O, Lillegard, Joseph B

“…Phenylketonuria (PKU) is a metabolic disorder whereby phenylalanine metabolism is deficient due to allelic variations in the gene for phenylalanine hydroxylase…”
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