JP2024511024A - ２１－ヒドロキシラーゼ欠損症の遺伝子治療 - Google Patents

２１－ヒドロキシラーゼ欠損症の遺伝子治療 Download PDF

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JP2024511024A
JP2024511024A JP2023557013A JP2023557013A JP2024511024A JP 2024511024 A JP2024511024 A JP 2024511024A JP 2023557013 A JP2023557013 A JP 2023557013A JP 2023557013 A JP2023557013 A JP 2023557013A JP 2024511024 A JP2024511024 A JP 2024511024A
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aav
promoter
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Inventor
クレイトン ビアード，
カマル バルーチャ，
ピエール ブニェール，
エリック デイビッド，
レイチェル エクロフ，
ラファエル エスカンドン，
ジェネビーブ ラフォレ，
アダム シェイウィッツ，
フュール， ソフィー ル
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アドリーナス セラピューティクス， インコーポレイテッド
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Publication of JP2024511024A publication Critical patent/JP2024511024A/ja
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    • 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
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/435—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom
    • A61K31/4353—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom ortho- or peri-condensed with heterocyclic ring systems
    • A61K31/436—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom ortho- or peri-condensed with heterocyclic ring systems the heterocyclic ring system containing a six-membered ring having oxygen as a ring hetero atom, e.g. rapamycin
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    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
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    • A61K31/57—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids substituted in position 17 beta by a chain of two carbon atoms, e.g. pregnane or progesterone
    • A61K31/573—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids substituted in position 17 beta by a chain of two carbon atoms, e.g. pregnane or progesterone substituted in position 21, e.g. cortisone, dexamethasone, prednisone or aldosterone
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    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
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    • C12N15/86—Viral vectors
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    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
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    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/0306—Animal model for genetic diseases
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    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K2300/00—Mixtures or combinations of active ingredients, wherein at least one active ingredient is fully defined in groups A61K31/00 - A61K41/00
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    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/44—Oxidoreductases (1)
    • 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
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    • C12N2800/22—Vectors comprising a coding region that has been codon optimised for expression in a respective host
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    • C12Y—ENZYMES
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    • 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)
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  • Chemical & Material Sciences (AREA)
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  • Genetics & Genomics (AREA)
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  • Animal Behavior & Ethology (AREA)
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  • Microbiology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
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  • Biophysics (AREA)
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  • Virology (AREA)
  • Endocrinology (AREA)
  • Diabetes (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Steroid Compounds (AREA)
  • Saccharide Compounds (AREA)
  • Nitrogen And Oxygen Or Sulfur-Condensed Heterocyclic Ring Systems (AREA)
  • Medicinal Preparation (AREA)
JP2023557013A 2021-03-19 2022-03-18 ２１－ヒドロキシラーゼ欠損症の遺伝子治療 Pending JP2024511024A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202163163634P 2021-03-19 2021-03-19
US63/163,634 2021-03-19
PCT/US2022/020933 WO2022198038A1 (en) 2021-03-19 2022-03-18 Gene therapies for 21-hydroxylase deficiency

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JP2024511024A true JP2024511024A (ja) 2024-03-12
JP2024511024A5 JP2024511024A5 (https=) 2025-02-04

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JP2023557013A Pending JP2024511024A (ja) 2021-03-19 2022-03-18 ２１－ヒドロキシラーゼ欠損症の遺伝子治療

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US (1) US20240191213A1 (https=)
EP (1) EP4308711A1 (https=)
JP (1) JP2024511024A (https=)
KR (1) KR20230159837A (https=)
AR (1) AR125143A1 (https=)
BR (1) BR112023018430A2 (https=)
CA (1) CA3212876A1 (https=)
WO (1) WO2022198038A1 (https=)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3088323A1 (en) 2018-01-17 2019-07-25 Adrenas Therapeutics, Inc. Adeno-associated virus gene therapy for 21-hydroxylase deficiency
CN116350801A (zh) * 2022-11-22 2023-06-30 四川至善唯新生物科技有限公司 一种重组腺相关病毒载体的药物组合物及其用途
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
WO2019143803A1 (en) * 2018-01-17 2019-07-25 Adrenas Therapeutics, Inc. Adeno-associated virus gene therapy for 21-hydroxylase deficiency

Family Cites Families (9)

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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
DK2573170T3 (en) 2001-12-17 2018-04-09 Univ Pennsylvania Sequences of adeno-associated virus (AAV) serotype 9, vectors containing them, and their use
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
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
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

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2019143803A1 (en) * 2018-01-17 2019-07-25 Adrenas Therapeutics, Inc. Adeno-associated virus gene therapy for 21-hydroxylase deficiency

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
SANGEETHA HAREENDRAN ET AL.: "Adeno-associated virus (AAV) vectors in gene therapy: immune challenges and strategies to circumvent", REVIEWS IN MEDICAL VIROLOGY, vol. 23, no. 6, JPN6025043785, 2013, pages 399 - 413, ISSN: 0005837104 *

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Publication number Publication date
EP4308711A1 (en) 2024-01-24
AR125143A1 (es) 2023-06-14
KR20230159837A (ko) 2023-11-22
US20240191213A1 (en) 2024-06-13
BR112023018430A2 (pt) 2023-11-28
WO2022198038A1 (en) 2022-09-22
CA3212876A1 (en) 2022-09-22

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