Title:
METHODS OF TREATING PHENYLKETONURIA
Document Type and Number:
WIPO Patent Application WO/2019/217513
Kind Code:
A3
Abstract:
Provided herein are methods of treating phenylketonuria by normalizing levels of amino acids, neurotransmitters, and neurotransmitter metabolites in a subject having phenylketonuria.
Inventors:
BERGUIG GEOFFREY (US)
MAHIMKAR RAJEEV (US)
AKEEFE HASSIB (US)
COLOSI PETER (US)
MAHIMKAR RAJEEV (US)
AKEEFE HASSIB (US)
COLOSI PETER (US)
Application Number:
PCT/US2019/031252
Publication Date:
December 19, 2019
Filing Date:
May 08, 2019
Export Citation:
Assignee:
BIOMARIN PHARM INC (US)
International Classes:
A61P3/00; A61K48/00; C12N9/02; C12N15/86; G01N33/94
Domestic Patent References:
| WO2018126112A1 | 2018-07-05 | |||
| WO2003087383A1 | 2003-10-23 | |||
| WO2016004318A1 | 2016-01-07 | |||
| WO2011005968A1 | 2011-01-13 |
Other References:
SHELLEY R. WINN ET AL: "Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice", MOLECULAR GENETICS AND METABOLISM, vol. 123, no. 1, 19 October 2017 (2017-10-19), AMSTERDAM, NL, pages 6 - 20, XP055615016, ISSN: 1096-7192, DOI: 10.1016/j.ymgme.2017.10.009
SHOJI YANO ET AL: "Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters", PLOS ONE, vol. 11, no. 8, 11 August 2016 (2016-08-11), pages e0160892, XP055615077, DOI: 10.1371/journal.pone.0160892
HIU MAN VIECELLI ET AL: "Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver", HEPATOLOGY, vol. 60, no. 3, 29 July 2014 (2014-07-29), pages 1035 - 1043, XP055337720, ISSN: 0270-9139, DOI: 10.1002/hep.27104
HIU-MAN VIECELLI ET AL: "355. Minicircles Show Improved Hepatic Expression of Their Transgene from a Natural Endogenous Promoter and Are Lost Upon Partial Hepatectomy Due to the Episomal Nature of the Vector", MOLECULAR THERAPY, vol. 24, no. SUPPL. 1, 1 May 2016 (2016-05-01), pages S142, XP055615420
B. BURTON ET AL: "A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria", MOLECULAR GENETICS AND METABOLISM, vol. 114, no. 3, 1 March 2015 (2015-03-01), AMSTERDAM, NL, pages 415 - 424, XP055635806, ISSN: 1096-7192, DOI: 10.1016/j.ymgme.2014.11.011
JANET THOMAS ET AL: "Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)", MOLECULAR GENETICS AND METABOLISM, vol. 124, no. 1, 1 May 2018 (2018-05-01), AMSTERDAM, NL, pages 27 - 38, XP055635773, ISSN: 1096-7192, DOI: 10.1016/j.ymgme.2018.03.006
SAWIN EMILY A ET AL: "Differential effects of low-phenylalanine protein sources on brain neurotransmitters and behavior in C57Bl/6-Pahenu2mice", MOLECULAR GENETICS AND METABOLISM, vol. 111, no. 4, 8 February 2014 (2014-02-08), pages 452 - 461, XP028844462, ISSN: 1096-7192, DOI: 10.1016/J.YMGME.2014.01.015
PATRÍCIA FERNANDA SCHUCK ET AL: "Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations", AGING AND DISEASE, vol. 6, no. 5, 1 January 2015 (2015-01-01), pages 390, XP055635830, ISSN: 2152-5250, DOI: 10.14336/AD.2015.0827
WONG JENNY-MARIE T ET AL: "Benzoyl chloride derivatization with liquid chromatography-mass spectrometry for targeted metabolomics of neurochemicals in biological samples", JOURNAL OF CHROMATOGRAPHY A, vol. 1446, 4 April 2016 (2016-04-04), pages 78 - 90, XP029518483, ISSN: 0021-9673, DOI: 10.1016/J.CHROMA.2016.04.006
SHOJI YANO ET AL: "Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters", PLOS ONE, vol. 11, no. 8, 11 August 2016 (2016-08-11), pages e0160892, XP055615077, DOI: 10.1371/journal.pone.0160892
HIU MAN VIECELLI ET AL: "Treatment of phenylketonuria using minicircle-based naked-DNA gene transfer to murine liver", HEPATOLOGY, vol. 60, no. 3, 29 July 2014 (2014-07-29), pages 1035 - 1043, XP055337720, ISSN: 0270-9139, DOI: 10.1002/hep.27104
HIU-MAN VIECELLI ET AL: "355. Minicircles Show Improved Hepatic Expression of Their Transgene from a Natural Endogenous Promoter and Are Lost Upon Partial Hepatectomy Due to the Episomal Nature of the Vector", MOLECULAR THERAPY, vol. 24, no. SUPPL. 1, 1 May 2016 (2016-05-01), pages S142, XP055615420
B. BURTON ET AL: "A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria", MOLECULAR GENETICS AND METABOLISM, vol. 114, no. 3, 1 March 2015 (2015-03-01), AMSTERDAM, NL, pages 415 - 424, XP055635806, ISSN: 1096-7192, DOI: 10.1016/j.ymgme.2014.11.011
JANET THOMAS ET AL: "Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)", MOLECULAR GENETICS AND METABOLISM, vol. 124, no. 1, 1 May 2018 (2018-05-01), AMSTERDAM, NL, pages 27 - 38, XP055635773, ISSN: 1096-7192, DOI: 10.1016/j.ymgme.2018.03.006
SAWIN EMILY A ET AL: "Differential effects of low-phenylalanine protein sources on brain neurotransmitters and behavior in C57Bl/6-Pahenu2mice", MOLECULAR GENETICS AND METABOLISM, vol. 111, no. 4, 8 February 2014 (2014-02-08), pages 452 - 461, XP028844462, ISSN: 1096-7192, DOI: 10.1016/J.YMGME.2014.01.015
PATRÍCIA FERNANDA SCHUCK ET AL: "Phenylketonuria Pathophysiology: on the Role of Metabolic Alterations", AGING AND DISEASE, vol. 6, no. 5, 1 January 2015 (2015-01-01), pages 390, XP055635830, ISSN: 2152-5250, DOI: 10.14336/AD.2015.0827
WONG JENNY-MARIE T ET AL: "Benzoyl chloride derivatization with liquid chromatography-mass spectrometry for targeted metabolomics of neurochemicals in biological samples", JOURNAL OF CHROMATOGRAPHY A, vol. 1446, 4 April 2016 (2016-04-04), pages 78 - 90, XP029518483, ISSN: 0021-9673, DOI: 10.1016/J.CHROMA.2016.04.006
Attorney, Agent or Firm:
RIEGER, Dale, L. et al. (US)
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