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 (https=
JPWO2020023857A5 (https=
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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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Publication of JP2021531044A publication Critical patent/JP2021531044A/ja
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    • 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
    • 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
    • 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)
    • C12Y301/06—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
    • 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)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (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)
  • Plant Pathology (AREA)
  • Virology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Physical Education & Sports Medicine (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)
  • Enzymes And Modification Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Peptides Or Proteins (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 (3)

Publication Number Publication Date
JP2021531044A true JP2021531044A (ja) 2021-11-18
JP2021531044A5 JP2021531044A5 (https=) 2022-08-02
JPWO2020023857A5 JPWO2020023857A5 (https=) 2022-08-02

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ID=69180546

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

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TW202039857A (zh) 2018-07-27 2020-11-01 美商銳進科斯生物股份有限公司 黏多醣病iva之治療
US12290574B2 (en) 2018-08-24 2025-05-06 Spark Therapeutics, Inc. Optimized promoter sequences, intron-free expression constructs and methods of use
JP2022544004A (ja) * 2019-07-26 2022-10-17 リジェネックスバイオ インコーポレイテッド 操作された核酸調節エレメントならびにその使用方法
AR121201A1 (es) * 2020-01-29 2022-04-27 Regenxbio Inc Tratamiento de mucopolisacaridosis 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)

* Cited by examiner, † Cited by third party
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
ES2429142T3 (es) 2009-01-30 2013-11-13 Uniqure Ip B.V. Agentes terapéuticos de alanina-glioxilato aminotransferasa
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
TW202039857A (zh) 2018-07-27 2020-11-01 美商銳進科斯生物股份有限公司 黏多醣病iva之治療
AR121201A1 (es) 2020-01-29 2022-04-27 Regenxbio Inc Tratamiento de mucopolisacaridosis 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)

* Cited by examiner, † Cited by third party
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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Publication number Publication date
WO2020023857A1 (en) 2020-01-30
EP3829619A1 (en) 2021-06-09
CA3107800A1 (en) 2020-01-30
AU2019312301A1 (en) 2021-02-18
SG11202100781VA (en) 2021-02-25
US12247213B2 (en) 2025-03-11
US20210292789A1 (en) 2021-09-23
CO2021002505A2 (es) 2021-03-08
IL280343A (en) 2021-03-25
KR20210040984A (ko) 2021-04-14
EP3829619A4 (en) 2022-05-18
BR112021001498A2 (pt) 2021-04-27
TW202039857A (zh) 2020-11-01

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