JP2022528010A - メープルシロップ尿症（ｍｓｕｄ）のａａｖ媒介遺伝子治療 - Google Patents

メープルシロップ尿症（ｍｓｕｄ）のａａｖ媒介遺伝子治療 Download PDF

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JP2022528010A
JP2022528010A JP2021560728A JP2021560728A JP2022528010A JP 2022528010 A JP2022528010 A JP 2022528010A JP 2021560728 A JP2021560728 A JP 2021560728A JP 2021560728 A JP2021560728 A JP 2021560728A JP 2022528010 A JP2022528010 A JP 2022528010A
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bckdha
endogenous
bckdhb
nucleic acid
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JP2022528010A5 (enExample
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ガオ，グアンピン
ワン，ダン
ワン，ジアミン
ストラウス，ケビン，エー．
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Clinic for Special Children
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Clinic for Special Children
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • 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
    • A61P3/00—Drugs for disorders of the metabolism
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2750/00—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • 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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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
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  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Biomedical Technology (AREA)
  • Biochemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Microbiology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Diabetes (AREA)
  • Hematology (AREA)
  • Obesity (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Epidemiology (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
JP2021560728A 2019-04-12 2020-04-10 メープルシロップ尿症（ｍｓｕｄ）のａａｖ媒介遺伝子治療 Pending JP2022528010A (ja)

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 (2)

Publication Number Publication Date
JP2022528010A true JP2022528010A (ja) 2022-06-07
JP2022528010A5 JP2022528010A5 (enExample) 2023-04-18

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JP2021560728A Pending JP2022528010A (ja) 2019-04-12 2020-04-10 メープルシロップ尿症（ｍｓｕｄ）のａａｖ媒介遺伝子治療

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

Families Citing this family (8)

* 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
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
WO2025212609A1 (en) * 2024-04-02 2025-10-09 University Of Massachusetts Evolved nucleic acids encoding aspartoacylase proteins

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2019504888A (ja) * 2016-02-05 2019-02-21 エモリー ユニバーシティ 一本鎖アデノ随伴ウイルス９または自己相補型アデノ随伴ウイルス９の脳脊髄液への注射

Family Cites Families (11)

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Publication number Priority date Publication date Assignee Title
CN1331092A (zh) 2000-06-28 2002-01-16 上海博德基因开发有限公司 一种新的多肽——环指基因mid1蛋白10.56和编码这种多肽的多核苷酸
CN103502458B (zh) * 2011-02-17 2016-11-16 宾夕法尼亚大学托管会 用于改变组织特异性和改善aav9-介导的基因转移的组合物和方法
CN104099349B (zh) 2013-04-08 2018-07-24 深圳华大基因股份有限公司 枫糖尿病相关基因突变、其检测方法及其用途
WO2016065001A1 (en) 2014-10-21 2016-04-28 University Of Massachusetts Recombinant aav variants and uses thereof
EP3247328B1 (en) 2015-01-21 2026-01-07 Genevant Sciences Gmbh Methods, compositions, and systems for delivering therapeutic and diagnostic agents into cells
WO2017191274A2 (en) * 2016-05-04 2017-11-09 Curevac Ag Rna encoding a therapeutic protein
WO2018016884A1 (ko) 2016-07-20 2018-01-25 주식회사 녹십자지놈 선천성 기능장애 진단용 조성물 및 이의 용도
WO2018185110A1 (en) 2017-04-03 2018-10-11 Fit Biotech Oy Novel expression vectors and uses thereof
KR20200074104A (ko) * 2017-10-04 2020-06-24 더 브로드 인스티튜트, 인코퍼레이티드 표적화된 핵산 편집을 위한 시스템, 방법, 및 조성물
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)

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2019504888A (ja) * 2016-02-05 2019-02-21 エモリー ユニバーシティ 一本鎖アデノ随伴ウイルス９または自己相補型アデノ随伴ウイルス９の脳脊髄液への注射

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
MOLECULAR THERAPY, vol. Vol 27, No 4S1, JPN6024013270, 22 April 2019 (2019-04-22), pages 238 - 239, ISSN: 0005298849 *

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Publication number Publication date
EP3953484A1 (en) 2022-02-16
US20220162570A1 (en) 2022-05-26
US12398378B2 (en) 2025-08-26
US20260062682A1 (en) 2026-03-05
EP3953484A4 (en) 2023-04-12
CN114008209A (zh) 2022-02-01
WO2020210595A9 (en) 2020-11-26
WO2020210595A1 (en) 2020-10-15

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