JP2021531044A - ムコ多糖症ｉｖａ型の治療 - Google Patents

ムコ多糖症ｉｖａ型の治療 Download PDF

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JP2021531044A
JP2021531044A JP2021527020A JP2021527020A JP2021531044A JP 2021531044 A JP2021531044 A JP 2021531044A JP 2021527020 A JP2021527020 A JP 2021527020A JP 2021527020 A JP2021527020 A JP 2021527020A JP 2021531044 A JP2021531044 A JP 2021531044A
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nucleotide sequence
hgalns
seq
mice
liver
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JP2021531044A5 (enExample
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トマツ シュンジ
サワモト カズキ
カルムチル メレチル スブハ
ダノス オリビエ
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レジェンクスバイオ インコーポレーテッド
ザ ネムール ファウンデーション
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    • C—CHEMISTRY; METALLURGY
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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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P19/00—Drugs for skeletal disorders
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61Q—SPECIFIC USE OF COSMETICS OR SIMILAR TOILETRY PREPARATIONS
    • A61Q19/00—Preparations for care of the skin
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • 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)
    • C12Y301/06—Sulfuric ester hydrolases (3.1.6)
    • C12Y301/06004—N-Acetylgalactosamine-6-sulfatase (3.1.6.4)
    • 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
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
    • A01K2217/054—Animals comprising random inserted nucleic acids (transgenic) inducing loss of function
    • 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
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C—CHEMISTRY; METALLURGY
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    • 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)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Virology (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Immunology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Dermatology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Enzymes And Modification Thereof (AREA)
JP2021527020A 2018-07-27 2019-07-26 ムコ多糖症ｉｖａ型の治療 Pending JP2021531044A (ja)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US201862711238P 2018-07-27 2018-07-27
US62/711,238 2018-07-27
US201862756880P 2018-11-07 2018-11-07
US62/756,880 2018-11-07
US201962799834P 2019-02-01 2019-02-01
US62/799,834 2019-02-01
PCT/US2019/043631 WO2020023857A1 (en) 2018-07-27 2019-07-26 Treatment of mucopolysaccharidosis iva

Publications (2)

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JP2021531044A true JP2021531044A (ja) 2021-11-18
JP2021531044A5 JP2021531044A5 (enExample) 2022-08-02

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JP2021527020A Pending JP2021531044A (ja) 2018-07-27 2019-07-26 ムコ多糖症ｉｖａ型の治療

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US (1) US12247213B2 (enExample)
EP (1) EP3829619A4 (enExample)
JP (1) JP2021531044A (enExample)
KR (1) KR20210040984A (enExample)
AU (1) AU2019312301A1 (enExample)
BR (1) BR112021001498A2 (enExample)
CA (1) CA3107800A1 (enExample)
CO (1) CO2021002505A2 (enExample)
IL (1) IL280343A (enExample)
SG (1) SG11202100781VA (enExample)
TW (1) TW202039857A (enExample)
WO (1) WO2020023857A1 (enExample)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
BR112021001498A2 (pt) 2018-07-27 2021-04-27 Regenxbio Inc. vírus adeno-associado recombinante (raav), composição farmacêutica, polinucleotídeo, plasmídeo de raav, célula ex vivo, método de produção de um raav e métodos para tratar um sujeito humano diagnosticado com mucopolissacaridose tipo iva (mps iva)
CN113226352B (zh) 2018-08-24 2025-08-26 星火治疗有限公司 最优化启动子序列、无内含子的表达结构及使用方法
EP4004214A1 (en) * 2019-07-26 2022-06-01 RegenxBio Inc. Engineered nucleic acid regulatory element and methods of uses thereof
BR112022015036A2 (pt) * 2020-01-29 2022-10-11 Regenxbio Inc Vírus adenoassociado recombinante (raav), composição farmacêutica, polinucleotídeo, plasmídeo de raav, célula ex vivo, método de produção de um raav, método para tratar um sujeito humano diagnosticado com mucopolissacaridose tipo iva (mps iva)
EP4423285A1 (en) * 2021-10-28 2024-09-04 RegenxBio Inc. Engineered nucleic acid regulatory elements and methods and uses thereof

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2008501307A (ja) * 2004-06-10 2008-01-24 俊治 戸松 酸性アミノ酸からなる短鎖ペプチドを付加したタンパク質
JP2016535587A (ja) * 2013-10-24 2016-11-17 ユニキュアー アイピー ビー．ブイ． Ａａｖ５カプシドタンパク質を含むアデノ随伴ウイルス（ａａｖ）を用いた神経学的疾患の処置
JP2018517414A (ja) * 2015-06-05 2018-07-05 ラボラトリオス デル ドクター エステヴェ ソシエダッド アノニマ ムコ多糖症治療用のアデノ随伴ウイルスベクター
WO2019228950A1 (en) * 2018-05-30 2019-12-05 Esteve Pharmaceuticals, S.A. Adenoassociated virus vectors for the treatment of mucopolysaccharidoses type iv a

Family Cites Families (7)

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Publication number Priority date Publication date Assignee Title
US7972593B2 (en) 2004-06-10 2011-07-05 Saint Louis University Delivery of therapeutic agents to the bone
US20070207139A1 (en) 2004-06-10 2007-09-06 Saint Louis University, A Non-Profit Organization Enhancing the effect of therapeutic proteins on the central nervous system
EP2384200B1 (en) 2009-01-30 2013-07-10 UniQure IP B.V. Alanine-glyoxylate aminotransferase therapeutics
US20140271550A1 (en) 2013-03-14 2014-09-18 The Trustees Of The University Of Pennsylvania Constructs and Methods for Delivering Molecules via Viral Vectors with Blunted Innate Immune Responses
HK1257024A1 (zh) 2015-08-31 2019-10-11 宾夕法尼亚大学 用於治疗伴侣动物的aav-epo
BR112021001498A2 (pt) 2018-07-27 2021-04-27 Regenxbio Inc. vírus adeno-associado recombinante (raav), composição farmacêutica, polinucleotídeo, plasmídeo de raav, célula ex vivo, método de produção de um raav e métodos para tratar um sujeito humano diagnosticado com mucopolissacaridose tipo iva (mps iva)
BR112022015036A2 (pt) 2020-01-29 2022-10-11 Regenxbio Inc Vírus adenoassociado recombinante (raav), composição farmacêutica, polinucleotídeo, plasmídeo de raav, célula ex vivo, método de produção de um raav, método para tratar um sujeito humano diagnosticado com mucopolissacaridose tipo iva (mps iva)

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2008501307A (ja) * 2004-06-10 2008-01-24 俊治 戸松 酸性アミノ酸からなる短鎖ペプチドを付加したタンパク質
JP2016535587A (ja) * 2013-10-24 2016-11-17 ユニキュアー アイピー ビー．ブイ． Ａａｖ５カプシドタンパク質を含むアデノ随伴ウイルス（ａａｖ）を用いた神経学的疾患の処置
JP2018517414A (ja) * 2015-06-05 2018-07-05 ラボラトリオス デル ドクター エステヴェ ソシエダッド アノニマ ムコ多糖症治療用のアデノ随伴ウイルスベクター
WO2019228950A1 (en) * 2018-05-30 2019-12-05 Esteve Pharmaceuticals, S.A. Adenoassociated virus vectors for the treatment of mucopolysaccharidoses type iv a

Non-Patent Citations (2)

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Title
ALMECIGA-DIAZ, C. J. ET AL.: "Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modify", FEBS JOURNAL, vol. 277, JPN6023024824, 2010, pages 3608 - 3619, ISSN: 0005269986 *
TOMATSU, S. ET AL.: "Current and emerging treatments and surgical interventions for Morquio A syndrome: a review", RES REP ENDOCR DISORD, vol. 2012(2), JPN6023024825, December 2012 (2012-12-01), pages 65 - 77, ISSN: 0005269985 *

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CA3107800A1 (en) 2020-01-30
IL280343A (en) 2021-03-25
US12247213B2 (en) 2025-03-11
TW202039857A (zh) 2020-11-01
CO2021002505A2 (es) 2021-03-08
WO2020023857A1 (en) 2020-01-30
EP3829619A1 (en) 2021-06-09
EP3829619A4 (en) 2022-05-18
AU2019312301A1 (en) 2021-02-18
KR20210040984A (ko) 2021-04-14
US20210292789A1 (en) 2021-09-23
BR112021001498A2 (pt) 2021-04-27
SG11202100781VA (en) 2021-02-25

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