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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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
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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
    • C12N15/11—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
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    • 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)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • Plant Pathology (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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US (1) US20220017922A1 (https=)
EP (1) EP3898981B1 (https=)
JP (1) JP7486274B2 (https=)
KR (1) KR20210105390A (https=)
CN (1) CN113454226B (https=)
AU (1) AU2019405758B2 (https=)
BR (1) BR112021012104A2 (https=)
CA (1) CA3123841A1 (https=)
DK (1) DK3898981T5 (https=)
ES (1) ES2969222T3 (https=)
IL (1) IL283956A (https=)
MX (1) MX2021007379A (https=)
PL (1) PL3898981T3 (https=)
PT (1) PT3898981T (https=)
WO (1) WO2020132115A1 (https=)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20250222134A1 (en) * 2021-10-19 2025-07-10 University Of Connecticut Compositions and methods for the treatment of glycogen storage disorders

Family Cites Families (11)

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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
DE602004030327D1 (de) 2003-05-21 2011-01-13 Genzyme Corp Verfahren zur herstellung von präparationen rekombinanter aav-virionen, die weitgehend frei von leeren capsiden sind
DK2242840T3 (da) 2008-01-29 2019-10-21 Applied Genetic Tech Corporation Produktion af rekombinant adeno-associeret virus under anvendelse af bhk-celler i 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
DK2529020T3 (en) 2010-01-28 2018-08-06 Childrens Hospital Philadelphia SCALABLE PREPARATION PLATF FOR CLEANING VIRAL VECTORS AND CLEANED VIRAL VECTORS FOR USE IN GENTHERAPY
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
WO2015081101A1 (en) * 2013-11-26 2015-06-04 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
JP6824169B2 (ja) 2014-12-23 2021-02-03 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 改変ｇ６ｐｃをコードするアデノ随伴ウイルスベクターおよびその使用
PL3436593T3 (pl) 2016-03-28 2023-03-27 Ultragenyx Pharmaceutical Inc. Sposoby inaktywacji termicznej adenowirusów
AU2018212002A1 (en) * 2017-01-30 2019-08-29 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Recombinant virus vectors for the treatment of glycogen storage disease

Non-Patent Citations (3)

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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 *

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

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