CN113454226B - 用于治疗糖原贮积病的方法和组合物 - Google Patents

用于治疗糖原贮积病的方法和组合物

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Publication number
CN113454226B
CN113454226B CN201980083410.8A CN201980083410A CN113454226B CN 113454226 B CN113454226 B CN 113454226B CN 201980083410 A CN201980083410 A CN 201980083410A CN 113454226 B CN113454226 B CN 113454226B
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Prior art keywords
raav
aav
nucleic acid
vector
seq
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CN201980083410.8A
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Chinese (zh)
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CN113454226A (zh
Inventor
克里斯托弗·蒂珀
凯利·里德·克拉克
塞缪尔·沃兹沃思
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Altraginx Pharmaceuticals
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Altraginx Pharmaceuticals
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    • C—CHEMISTRY; METALLURGY
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    • 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
    • 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
    • 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
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • 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
    • C12N15/864—Parvoviral vectors, e.g. parvovirus, densovirus
    • C12N15/8645—Adeno-associated virus
    • 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
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y301/00—Hydrolases acting on ester bonds (3.1)
    • C12Y301/03—Phosphoric monoester hydrolases (3.1.3)
    • C12Y301/03009—Glucose-6-phosphatase (3.1.3.9)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/35—Special therapeutic applications based on a specific dosage / administration regimen
    • 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
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    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/34—Vector systems having a special element relevant for transcription being a transcription initiation element
    • 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
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/42—Vector systems having a special element relevant for transcription being an intron or intervening sequence for splicing and/or stability of RNA
    • 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
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Medicinal Chemistry (AREA)
  • Virology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
CN201980083410.8A 2018-12-18 2019-12-18 用于治疗糖原贮积病的方法和组合物 Active CN113454226B (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862781380P 2018-12-18 2018-12-18
US62/781,380 2018-12-18
PCT/US2019/067247 WO2020132115A1 (en) 2018-12-18 2019-12-18 Methods and compositions for treating glycogen storage diseases

Publications (2)

Publication Number Publication Date
CN113454226A CN113454226A (zh) 2021-09-28
CN113454226B true CN113454226B (zh) 2025-10-31

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Country Status (14)

Country Link
US (1) US20220017922A1 (OSRAM)
EP (1) EP3898981B1 (OSRAM)
JP (1) JP7486274B2 (OSRAM)
CN (1) CN113454226B (OSRAM)
AU (1) AU2019405758B2 (OSRAM)
BR (1) BR112021012104A2 (OSRAM)
CA (1) CA3123841A1 (OSRAM)
DK (1) DK3898981T5 (OSRAM)
ES (1) ES2969222T3 (OSRAM)
IL (1) IL283956A (OSRAM)
MX (1) MX2021007379A (OSRAM)
PL (1) PL3898981T3 (OSRAM)
PT (1) PT3898981T (OSRAM)
WO (1) WO2020132115A1 (OSRAM)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2023069891A1 (en) * 2021-10-19 2023-04-27 University Of Connecticut Compositions and methods for the treatment of glycogen storage disorders

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US6759050B1 (en) 1998-12-03 2004-07-06 Avigen, Inc. Excipients for use in adeno-associated virus pharmaceutical formulations, and pharmaceutical formulations made therewith
JP2002191363A (ja) * 1999-07-29 2002-07-09 Herikkusu Kenkyusho:Kk 全長ｃＤＮＡ合成用プライマー、およびその用途
US7261544B2 (en) 2003-05-21 2007-08-28 Genzyme Corporation Methods for producing preparations of recombinant AAV virions substantially free of empty capsids
CA2713338C (en) 2008-01-29 2021-10-26 Applied Genetic Technologies Corporation Recombinant virus production using mammalian cells in suspension
US8679837B2 (en) 2009-04-02 2014-03-25 University Of Florida Research Foundation, Inc. Inducible system for highly efficient production of recombinant Adeno-associated virus (rAAV) vectors
ES2680915T3 (es) 2010-01-28 2018-09-11 The Children's Hospital Of Philadelphia Plataforma de fabricación escalable para la purificación de vectores virales y vectores virales purificados de este modo para su utilización en terapia génica
AU2014216160B2 (en) * 2013-02-15 2017-03-30 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services AAV8 retinoschisin expression vector for treating X-linked retinoschisis
US9644216B2 (en) * 2013-11-26 2017-05-09 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Adeno-associated virus vectors for treatment of glycogen storage disease
ES2824829T3 (es) * 2014-12-23 2021-05-13 Us Health Vectores de virus adenoasociado que codifican G6PC modificada y usos de estos
LT3436593T (lt) 2016-03-28 2023-03-10 Ultragenyx Pharmaceutical Inc. Adenoviruso šiluminio inaktyvavimo būdai
JP2020506695A (ja) * 2017-01-30 2020-03-05 ザ ユナイテッド ステイツ オブ アメリカ， アズ リプレゼンテッド バイ ザ セクレタリー， デパートメント オブ ヘルス アンド ヒューマン サービシーズ 糖原病を処置するための組換えウイルスベクター

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
G6PC基因复合杂合突变致糖原累积病Ia型1例;王晶等;《检验医学与临床》;20211201(第22期);第3359-3360页 *
Gene therapy for glycogen storage diseases;Kishnani PS等;《Human Molecular Genetics》;20191001;第28卷(第R1期);第R31-R41页 *
The Upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia;Lee YM等;《Molecular Genetics Metabolism》;20131130;第110卷(第3期);摘要 *

Also Published As

Publication number Publication date
KR20210105390A (ko) 2021-08-26
ES2969222T3 (es) 2024-05-17
DK3898981T3 (da) 2024-01-22
MX2021007379A (es) 2021-07-15
AU2019405758A1 (en) 2021-07-01
EP3898981A1 (en) 2021-10-27
PL3898981T3 (pl) 2024-04-02
JP7486274B2 (ja) 2024-05-17
AU2019405758A2 (en) 2022-05-12
WO2020132115A8 (en) 2021-05-14
CA3123841A1 (en) 2020-06-25
WO2020132115A1 (en) 2020-06-25
PT3898981T (pt) 2023-12-28
AU2019405758B2 (en) 2026-02-05
US20220017922A1 (en) 2022-01-20
EP3898981B1 (en) 2023-10-18
IL283956A (en) 2021-07-29
DK3898981T5 (da) 2024-08-05
JP2022514271A (ja) 2022-02-10
CN113454226A (zh) 2021-09-28
BR112021012104A2 (pt) 2021-09-08

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