CN114008209A - Aav介导的枫糖尿症(msud)基因疗法 - Google Patents

Aav介导的枫糖尿症(msud)基因疗法 Download PDF

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Publication number
CN114008209A
CN114008209A CN202080042483.5A CN202080042483A CN114008209A CN 114008209 A CN114008209 A CN 114008209A CN 202080042483 A CN202080042483 A CN 202080042483A CN 114008209 A CN114008209 A CN 114008209A
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bckdha
endogenous
bckdhb
nucleic acid
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高光平
王丹
王家明
K·A·施特劳斯
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Special Children's Clinic
University of Massachusetts Amherst
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Special Children's Clinic
University of Massachusetts Amherst
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0008—Oxidoreductases (1.) acting on the aldehyde or oxo group of donors (1.2)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A61K48/0058—Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
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    • A—HUMAN NECESSITIES
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    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
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    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86—Viral vectors
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    • C12Y102/00—Oxidoreductases acting on the aldehyde or oxo group of donors (1.2)
    • C12Y102/04—Oxidoreductases acting on the aldehyde or oxo group of donors (1.2) with a disulfide as acceptor (1.2.4)
    • C12Y102/04004—3-Methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) (1.2.4.4), i.e. branched-chain-alpha-ketoacid dehydrogenase
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    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
    • C12N2750/14143—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector
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    • C12N2800/00—Nucleic acids vectors
    • C12N2800/22—Vectors comprising a coding region that has been codon optimised for expression in a respective host

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  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
CN202080042483.5A 2019-04-12 2020-04-10 Aav介导的枫糖尿症(msud)基因疗法 Pending CN114008209A (zh)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201962833159P 2019-04-12 2019-04-12
US62/833,159 2019-04-12
US201962930687P 2019-11-05 2019-11-05
US62/930,687 2019-11-05
PCT/US2020/027622 WO2020210595A1 (en) 2019-04-12 2020-04-10 Aav-mediated gene therapy for maple syrup urine disease (msud)

Publications (1)

Publication Number Publication Date
CN114008209A true CN114008209A (zh) 2022-02-01

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CN202080042483.5A Pending CN114008209A (zh) 2019-04-12 2020-04-10 Aav介导的枫糖尿症(msud)基因疗法

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US (2) US12398378B2 (enExample)
EP (1) EP3953484A4 (enExample)
JP (1) JP2022528010A (enExample)
CN (1) CN114008209A (enExample)
WO (1) WO2020210595A1 (enExample)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN114561333A (zh) * 2022-02-23 2022-05-31 山东第一医科大学(山东省医学科学院) 一种转化支链氨基酸的工程菌及在制备治疗枫糖尿症产品中的应用

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3953484A4 (en) 2019-04-12 2023-04-12 University of Massachusetts Aav-mediated gene therapy for maple syrup urine disease (msud)
US20220370638A1 (en) * 2019-06-20 2022-11-24 The Trustees Of The University Of Pennsylvania Compositions and methods for treatment of maple syrup urine disease
US20230136699A1 (en) * 2020-02-28 2023-05-04 INSERM (Institut National de la Santé et de la Recherche Médicale) Gene therapy for maple syrup urine disease
EP4330410A4 (en) * 2021-04-26 2025-04-23 University of Massachusetts Gene therapy for BCAA modulation in maple syrup urine disease (MSUD)
US12285497B2 (en) * 2021-10-15 2025-04-29 Research Institute At Nationwide Children's Hospital Self-complementary adeno-associated virus vector and its use in treatment of muscular dystrophy
US20230279431A1 (en) * 2021-11-30 2023-09-07 Research Institute At Nationwide Children's Hospital Self-Complementary Adeno-Associated Virus Vector and its Use in Treatment of Muscular Dystrophy
WO2025212609A1 (en) * 2024-04-02 2025-10-09 University Of Massachusetts Evolved nucleic acids encoding aspartoacylase proteins

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WO2002012316A1 (en) * 2000-06-28 2002-02-14 Shanghai Biowindow Gene Development Inc. A novel polypeptide - human branched-chain alpha-ketoacid dehydrogenase (bckdh) e1-beta subunit 9.9 and a polynucleotide encoding the same
CN104099349A (zh) * 2013-04-08 2014-10-15 深圳华大基因科技有限公司 枫糖尿病相关基因突变、其检测方法及其用途
WO2017136202A1 (en) * 2016-02-05 2017-08-10 Emory University Injection of single-stranded or self-complementary adeno-associated virus 9 into the cerebrospinal fluid
CN107073051A (zh) * 2014-10-21 2017-08-18 马萨诸塞大学 重组aav变体及其用途
WO2018016884A1 (ko) * 2016-07-20 2018-01-25 주식회사 녹십자지놈 선천성 기능장애 진단용 조성물 및 이의 용도
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EP3953484A4 (en) 2019-04-12 2023-04-12 University of Massachusetts Aav-mediated gene therapy for maple syrup urine disease (msud)
EP4330410A4 (en) 2021-04-26 2025-04-23 University of Massachusetts Gene therapy for BCAA modulation in maple syrup urine disease (MSUD)

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WO2002012316A1 (en) * 2000-06-28 2002-02-14 Shanghai Biowindow Gene Development Inc. A novel polypeptide - human branched-chain alpha-ketoacid dehydrogenase (bckdh) e1-beta subunit 9.9 and a polynucleotide encoding the same
CN104099349A (zh) * 2013-04-08 2014-10-15 深圳华大基因科技有限公司 枫糖尿病相关基因突变、其检测方法及其用途
CN107073051A (zh) * 2014-10-21 2017-08-18 马萨诸塞大学 重组aav变体及其用途
WO2017136202A1 (en) * 2016-02-05 2017-08-10 Emory University Injection of single-stranded or self-complementary adeno-associated virus 9 into the cerebrospinal fluid
WO2018016884A1 (ko) * 2016-07-20 2018-01-25 주식회사 녹십자지놈 선천성 기능장애 진단용 조성물 및 이의 용도
WO2019071048A1 (en) * 2017-10-04 2019-04-11 The Broad Institute, Inc. SYSTEMS, METHODS AND COMPOSITIONS FOR TARGETED NUCLEIC ACID EDITION

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HAN B 等: "Two novel mutations in the BCKDHB gene that cause maple syrup urine disease", 《PEDIATR NEONATOL》, vol. 59, no. 5, pages 515 - 519 *
LI X 等: "Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases", 《EUR J MED GENET》, vol. 58, no. 11, pages 617 - 623 *
张炜华 等: "BCKDHA基因突变相关硫胺素有效型枫糖尿症1例报告", 《中国循证儿科杂志》, vol. 11, no. 1, pages 75 - 77 *
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Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN114561333A (zh) * 2022-02-23 2022-05-31 山东第一医科大学(山东省医学科学院) 一种转化支链氨基酸的工程菌及在制备治疗枫糖尿症产品中的应用
CN114561333B (zh) * 2022-02-23 2023-08-25 山东第一医科大学(山东省医学科学院) 一种转化支链氨基酸的工程菌及在制备治疗枫糖尿症产品中的应用

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JP2022528010A (ja) 2022-06-07
US20220162570A1 (en) 2022-05-26
US12398378B2 (en) 2025-08-26
US20260062682A1 (en) 2026-03-05
EP3953484A4 (en) 2023-04-12
WO2020210595A9 (en) 2020-11-26
WO2020210595A1 (en) 2020-10-15

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Application publication date: 20220201