JP2023517929A - Ｎｍｎａｔ１関連網膜変性に対する遺伝子療法 - Google Patents

Ｎｍｎａｔ１関連網膜変性に対する遺伝子療法 Download PDF

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JP2023517929A
JP2023517929A JP2022554440A JP2022554440A JP2023517929A JP 2023517929 A JP2023517929 A JP 2023517929A JP 2022554440 A JP2022554440 A JP 2022554440A JP 2022554440 A JP2022554440 A JP 2022554440A JP 2023517929 A JP2023517929 A JP 2023517929A
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nmnat1
vector
aav2
promoter
eye
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JPWO2021183779A5 (https=
JP2023517929A5 (https=
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エー． ピアス，エリック
エイチ． ヴァンデンバーグ，リュク
グリーンウォルド，スコット
ブラウン，エミリー
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マサチューセッツ アイ アンド イヤー インファーマリー
ザ スケペンス アイ リサーチ インスティテュート，インコーポレイテッド
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Publication of JP2023517929A publication Critical patent/JP2023517929A/ja
Publication of JPWO2021183779A5 publication Critical patent/JPWO2021183779A5/ja
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    • A—HUMAN NECESSITIES
    • 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
    • A61K38/45—Transferases (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
    • 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
    • A61K48/0075—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 delivery route, e.g. oral, subcutaneous
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K9/00—Medicinal preparations characterised by special physical form
    • A61K9/0012—Galenical forms characterised by the site of application
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    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61K9/0048—Eye, e.g. artificial tears
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
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    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/005—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from viruses
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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
    • C12Y—ENZYMES
    • C12Y207/00—Transferases transferring phosphorus-containing groups (2.7)
    • C12Y207/07—Nucleotidyltransferases (2.7.7)
    • C12Y207/07001—Nicotinamide-nucleotide adenylyltransferase (2.7.7.1)
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/07—Animals genetically altered by homologous recombination
    • A01K2217/072—Animals genetically altered by homologous recombination maintaining or altering function, i.e. knock in
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/07—Animals genetically altered by homologous recombination
    • A01K2217/075—Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00—Animals characterised by species
    • A01K2227/10—Mammal
    • A01K2227/105—Murine
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/0306—Animal model for genetic diseases
    • 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
    • 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

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
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  • Animal Behavior & Ethology (AREA)
  • Genetics & Genomics (AREA)
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  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
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  • Bioinformatics & Cheminformatics (AREA)
  • Biochemistry (AREA)
  • Ophthalmology & Optometry (AREA)
  • Biomedical Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • Virology (AREA)
  • Immunology (AREA)
  • Dermatology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicinal Preparation (AREA)
JP2022554440A 2020-03-11 2021-03-11 Ｎｍｎａｔ１関連網膜変性に対する遺伝子療法 Pending JP2023517929A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202062988260P 2020-03-11 2020-03-11
US62/988,260 2020-03-11
PCT/US2021/021936 WO2021183779A1 (en) 2020-03-11 2021-03-11 Gene therapy for nmnat1-associated retinal degeneration

Publications (3)

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JP2023517929A true JP2023517929A (ja) 2023-04-27
JPWO2021183779A5 JPWO2021183779A5 (https=) 2024-03-19
JP2023517929A5 JP2023517929A5 (https=) 2024-03-19

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US (2) US12257320B2 (https=)
EP (1) EP4117644A4 (https=)
JP (1) JP2023517929A (https=)
KR (1) KR20220152550A (https=)
CN (1) CN115379834A (https=)
AU (1) AU2021236233A1 (https=)
BR (1) BR112022017970A2 (https=)
CA (1) CA3174781A1 (https=)
IL (1) IL296262A (https=)
MX (1) MX2022011177A (https=)
WO (1) WO2021183779A1 (https=)

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2018511652A (ja) * 2015-03-06 2018-04-26 マサチューセッツ アイ アンド イヤー インファーマリー Ｐｒｐｆ３１遺伝子における変異により引き起こされる遺伝性網膜変性に対する遺伝子増強療法
JP2018535956A (ja) * 2015-10-23 2018-12-06 ザ ジャクソン ラボラトリー 眼神経変性障害（例えば緑内障）の処置及び予防における使用のためのニコチンアミド

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2008501343A (ja) * 2004-06-04 2008-01-24 ワシントン・ユニバーシティ 神経障害を治療するための方法および組成物
EP3030665B9 (en) 2013-08-05 2023-10-04 Academisch Ziekenhuis Leiden H.O.D.N. Leids Universitair Medisch Centrum Recombinant aav-crumbs homologue composition and methods for treating lca-8 and progressive rp
KR102537394B1 (ko) * 2014-03-17 2023-05-30 애드베룸 바이오테크놀로지스, 인코포레이티드 원추세포에서 증강된 유전자 발현을 위한 조성물 및 방법
IL248102B (en) 2014-05-02 2022-07-01 Genzyme Corp aav vectors for gene therapy of the central nervous system and retina
PT3191139T (pt) 2014-07-24 2020-11-05 Massachusetts Eye & Ear Infirmary Terapia do gene rpgr para retinite pigmentosa
US11260081B2 (en) 2016-06-29 2022-03-01 Ramot At Tel-Aviv University Ltd. Engineered parasites for delivering protein to the central nervous system (CNS)
CN116509885A (zh) 2016-12-21 2023-08-01 新南创新私人有限公司 增加血管密度的方法
KR20200036912A (ko) * 2017-07-31 2020-04-07 리플렉션 바이오테크놀러지스 리미티드 안과 질환을 위한 세포 모델 및 치료요법

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2018511652A (ja) * 2015-03-06 2018-04-26 マサチューセッツ アイ アンド イヤー インファーマリー Ｐｒｐｆ３１遺伝子における変異により引き起こされる遺伝性網膜変性に対する遺伝子増強療法
JP2018535956A (ja) * 2015-10-23 2018-12-06 ザ ジャクソン ラボラトリー 眼神経変性障害（例えば緑内障）の処置及び予防における使用のためのニコチンアミド

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
BRYDON, E. M. ET AL.: "AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/- iPSC-Derived", MOLECULAR THERAPY. METHODS & CLINICAL DEVELOPMENT, vol. 15, JPN6026000153, 2019, pages 392 - 402, ISSN: 0005774662 *
GREENWALD, S. H. ET AL.: "Gene augmentation therapy for NMNAT1-associated retinal degeneration: Promise and challenges", INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol. 60, no. 9, JPN6025008599, 2019, pages 3405, ISSN: 0005774661 *

Also Published As

Publication number Publication date
IL296262A (en) 2022-11-01
WO2021183779A1 (en) 2021-09-16
KR20220152550A (ko) 2022-11-16
MX2022011177A (es) 2022-12-13
CA3174781A1 (en) 2021-09-16
EP4117644A1 (en) 2023-01-18
US20250269068A1 (en) 2025-08-28
US20210299277A1 (en) 2021-09-30
AU2021236233A1 (en) 2022-09-22
BR112022017970A2 (pt) 2022-10-25
US12257320B2 (en) 2025-03-25
CN115379834A (zh) 2022-11-22
EP4117644A4 (en) 2024-08-14

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