CN111601620A - 用于21-羟化酶缺乏症的腺相关病毒基因疗法 - Google Patents

用于21-羟化酶缺乏症的腺相关病毒基因疗法 Download PDF

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Publication number
CN111601620A
CN111601620A CN201980008414.XA CN201980008414A CN111601620A CN 111601620 A CN111601620 A CN 111601620A CN 201980008414 A CN201980008414 A CN 201980008414A CN 111601620 A CN111601620 A CN 111601620A
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raav
adrenal
cyp21
promoter
aav
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CN201980008414.XA
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Chinese (zh)
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皮埃尔·布格纳斯
高光平
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Arenas Treatment Co
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Arenas Treatment Co
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    • 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.)
    • C12N9/0071—Oxidoreductases (1.) acting on paired donors with incorporation of molecular oxygen (1.14)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K39/00—Medicinal preparations containing antigens or antibodies
    • A61K39/12—Viral antigens
    • 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
    • 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
    • C12N15/63—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
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N7/00—Viruses; Bacteriophages; Compositions thereof; Preparation or purification thereof
    • 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
    • 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
    • C12N2750/14171—Demonstrated in vivo effect
    • 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
    • C12N2830/008—Vector systems having a special element relevant for transcription cell type or tissue specific enhancer/promoter combination
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y114/00—Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14)
    • C12Y114/14—Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14) with reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (1.14.14)

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
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  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
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  • General Engineering & Computer Science (AREA)
  • Biomedical Technology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Virology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Epidemiology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Mycology (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicinal Preparation (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Peptides Or Proteins (AREA)
CN201980008414.XA 2018-01-17 2019-01-17 用于21-羟化酶缺乏症的腺相关病毒基因疗法 Pending CN111601620A (zh)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201862618307P 2018-01-17 2018-01-17
US62/618,307 2018-01-17
US201862640311P 2018-03-08 2018-03-08
US62/640,311 2018-03-08
PCT/US2019/013991 WO2019143803A1 (en) 2018-01-17 2019-01-17 Adeno-associated virus gene therapy for 21-hydroxylase deficiency

Publications (1)

Publication Number Publication Date
CN111601620A true CN111601620A (zh) 2020-08-28

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ID=65494499

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201980008414.XA Pending CN111601620A (zh) 2018-01-17 2019-01-17 用于21-羟化酶缺乏症的腺相关病毒基因疗法

Country Status (8)

Country Link
US (2) US12195767B2 (https=)
EP (1) EP3740244B1 (https=)
JP (2) JP7569216B2 (https=)
KR (1) KR102892243B1 (https=)
CN (1) CN111601620A (https=)
BR (1) BR112020014404A2 (https=)
CA (1) CA3088323A1 (https=)
WO (1) WO2019143803A1 (https=)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115976004A (zh) * 2022-12-27 2023-04-18 天津科技大学 一种黄体酮17α-羟化酶突变体及其应用

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2022198038A1 (en) 2021-03-19 2022-09-22 Adrenas Therapeutics, Inc. Gene therapies for 21-hydroxylase deficiency
AU2022366947A1 (en) 2021-10-12 2024-05-02 Bridgebio Gene Therapy Llc Methods and compositions for treating leukodystrophies
AU2024317892A1 (en) * 2023-07-29 2025-08-28 Limited Liability Company «Genetic Technologies» (Llc «Genetic Technologies») Adeno-associated virus-based expression vectors

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2015041718A1 (en) * 2013-09-20 2015-03-26 The General Hospital Corporation Uses of modified mullerian inhibiting substance (mis) proteins for the treatment of neurodegenerative diseases

Family Cites Families (14)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5478745A (en) 1992-12-04 1995-12-26 University Of Pittsburgh Recombinant viral vector system
US6136597A (en) 1997-09-18 2000-10-24 The Salk Institute For Biological Studies RNA export element
WO1999061601A2 (en) 1998-05-28 1999-12-02 The Government Of The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Aav5 vector and uses thereof
PT1453547T (pt) 2001-12-17 2016-12-28 Univ Pennsylvania Sequências do vírus adeno-associado (aav) do serotipo 8, vetores contendo as mesmas, e utilizações destas
DK2573170T3 (en) 2001-12-17 2018-04-09 Univ Pennsylvania Sequences of adeno-associated virus (AAV) serotype 9, vectors containing them, and their use
EP1486567A1 (en) 2003-06-11 2004-12-15 Deutsches Krebsforschungszentrum Stiftung des öffentlichen Rechts Improved adeno-associated virus (AAV) vector for gene therapy
EP2345731B1 (en) 2003-09-30 2015-10-21 The Trustees of the University of Pennsylvania Adeno-associated virus (AAV) clades, sequences, vectors containing same, and uses thereof
US8865881B2 (en) * 2011-02-22 2014-10-21 California Institute Of Technology Delivery of proteins using adeno-associated virus (AAV) vectors
IL297919A (en) 2013-07-22 2023-01-01 Childrens Hospital Philadelphia Variant aav and compositions, methods and uses for gene transfer to cells, organs and tissues
EP3015550A1 (en) 2014-10-30 2016-05-04 Sanofi 21-Hydroxylation of steroids
EP3054006A1 (en) 2015-02-09 2016-08-10 Institut National De La Sante Et De La Recherche Medicale (Inserm) Recombinant adeno-associated virus particle purification with multiple-step anion exchange chromatography
HUE069664T2 (hu) * 2015-07-10 2025-04-28 Univ Guelph Madár-adenovírus 9 (FADV-9) vektorrendszer és kapcsolódó módszerek
WO2017191274A2 (en) * 2016-05-04 2017-11-09 Curevac Ag Rna encoding a therapeutic protein
WO2022198038A1 (en) 2021-03-19 2022-09-22 Adrenas Therapeutics, Inc. Gene therapies for 21-hydroxylase deficiency

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2015041718A1 (en) * 2013-09-20 2015-03-26 The General Hospital Corporation Uses of modified mullerian inhibiting substance (mis) proteins for the treatment of neurodegenerative diseases

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
M PERDOMINI ET AL.: "An AAVrh10-CAG-CYP21-HA vector allows persistent correction of 21-hydroxylase deficiency in a Cyp21−/− mouse model", 《GENE THERAPY》 *
SANDRA MARKMANN ET AL.: "Biology of the Adrenal Gland Cortex Obviates Effective Use of Adeno-associated Virus Vectors to Treat Hereditary Adrenal Disorders", 《HUMAN GENE THERAPY》 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115976004A (zh) * 2022-12-27 2023-04-18 天津科技大学 一种黄体酮17α-羟化酶突变体及其应用
CN115976004B (zh) * 2022-12-27 2024-07-09 天津科技大学 一种黄体酮17α-羟化酶突变体及其应用

Also Published As

Publication number Publication date
EP3740244B1 (en) 2025-05-21
JP2021511020A (ja) 2021-05-06
EP3740244A1 (en) 2020-11-25
BR112020014404A2 (pt) 2020-12-29
WO2019143803A1 (en) 2019-07-25
JP2023076698A (ja) 2023-06-01
US20250304925A1 (en) 2025-10-02
JP7569216B2 (ja) 2024-10-17
KR102892243B1 (ko) 2025-11-27
KR20200110376A (ko) 2020-09-23
CA3088323A1 (en) 2019-07-25
US20210277365A1 (en) 2021-09-09
US12195767B2 (en) 2025-01-14

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