CA3124564A1 - Methods and compositions for the treatment of fabry disease - Google Patents

Methods and compositions for the treatment of fabry disease Download PDF

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Publication number
CA3124564A1
CA3124564A1 CA3124564A CA3124564A CA3124564A1 CA 3124564 A1 CA3124564 A1 CA 3124564A1 CA 3124564 A CA3124564 A CA 3124564A CA 3124564 A CA3124564 A CA 3124564A CA 3124564 A1 CA3124564 A1 CA 3124564A1
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Prior art keywords
sequence
cell
protein
subject
gla
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Pending
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CA3124564A
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English (en)
French (fr)
Inventor
Marshall W. HUSTON
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Sangamo Therapeutics Inc
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Sangamo Therapeutics Inc
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Publication of CA3124564A1 publication Critical patent/CA3124564A1/en
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    • 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
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/56—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids
    • 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
    • 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
    • A61K38/46—Hydrolases (3)
    • A61K38/47—Hydrolases (3) acting on glycosyl compounds (3.2), e.g. cellulases, lactases
    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • 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
    • 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
    • A01K2267/035—Animal model for multifactorial diseases
    • A01K2267/0362—Animal model for lipid/glucose metabolism, e.g. obesity, type-2 diabetes
    • 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
    • C12N15/67—General methods for enhancing the expression
    • 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
    • C12N2800/00—Nucleic acids vectors
    • C12N2800/22—Vectors comprising a coding region that has been codon optimised for expression in a respective host
    • 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
    • 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
    • C12N2830/42—Vector systems having a special element relevant for transcription being an intron or intervening sequence for splicing and/or stability of RNA
    • 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
    • C12N2830/48—Vector systems having a special element relevant for transcription regulating transport or export of RNA, e.g. RRE, PRE, WPRE, CTE
    • 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
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal
    • 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)
    • C12N9/24—Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • C12N9/2465—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1) acting on alpha-galactose-glycoside bonds, e.g. alpha-galactosidase (3.2.1.22)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y302/00—Hydrolases acting on glycosyl compounds, i.e. glycosylases (3.2)
    • C12Y302/01—Glycosidases, i.e. enzymes hydrolysing O- and S-glycosyl compounds (3.2.1)
    • C12Y302/01022—Alpha-galactosidase (3.2.1.22)

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Biotechnology (AREA)
  • Biomedical Technology (AREA)
  • Epidemiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Hematology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Diabetes (AREA)
  • Microbiology (AREA)
  • Obesity (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Plant Pathology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicinal Preparation (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
CA3124564A 2019-01-04 2020-01-03 Methods and compositions for the treatment of fabry disease Pending CA3124564A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962788439P 2019-01-04 2019-01-04
US62/788,439 2019-01-04
PCT/US2020/012274 WO2020142752A1 (en) 2019-01-04 2020-01-03 Methods and compositions for the treatment of fabry disease

Publications (1)

Publication Number Publication Date
CA3124564A1 true CA3124564A1 (en) 2020-07-09

Family

ID=71407140

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3124564A Pending CA3124564A1 (en) 2019-01-04 2020-01-03 Methods and compositions for the treatment of fabry disease

Country Status (12)

Country Link
US (1) US20200239911A1 (https=)
EP (1) EP3906043A4 (https=)
JP (2) JP7716338B2 (https=)
KR (1) KR20210112337A (https=)
CN (1) CN113423419A (https=)
AU (1) AU2020204718B2 (https=)
BR (1) BR112021012249A2 (https=)
CA (1) CA3124564A1 (https=)
IL (1) IL284414A (https=)
MX (1) MX2021008131A (https=)
SG (1) SG11202107325TA (https=)
WO (1) WO2020142752A1 (https=)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3039673A1 (en) 2016-10-20 2018-04-26 Sangamo Therapeutics, Inc. Methods and compositions for the treatment of fabry disease
US20220298514A1 (en) * 2019-09-11 2022-09-22 Aav Gene Therapeutics, Inc. Aav-zyme and use for infusion replacement therapy
US20230355733A1 (en) * 2020-07-14 2023-11-09 Evaxion Biotech A/S APC targeting units for immunotherapy
AU2021356684A1 (en) * 2020-10-09 2023-05-11 The Trustees Of The University Of Pennsylvania Compositions and methods for treatment of fabry disease
KR20230150836A (ko) * 2021-02-26 2023-10-31 다케다 야쿠힌 고교 가부시키가이샤 파브리병 치료를 위한 조성물 및 방법
KR20240073025A (ko) * 2021-08-25 2024-05-24 캔브리지 파마슈티컬스, 인크. 간-향성 캡시드 단백질 및 알파-갈락토시다제를 포함하는 aav 입자 및 파브리 질환을 치료하기 위한 이의 용도
EP4426846A4 (en) * 2021-11-03 2025-11-05 Sangamo Therapeutics Inc METHODS OF USING VIRAL VECTOR CONSTRUCTIONS FOR THE TREATMENT OF FABRY DISEASE
WO2023102517A1 (en) * 2021-12-02 2023-06-08 The Trustees Of The University Of Pennsylvania Compositions and methods for treatment of fabry disease
CN118475373A (zh) * 2021-12-31 2024-08-09 九天生物医药(上海)有限公司 用于法布雷病的基因治疗的重组aav
WO2023164060A2 (en) * 2022-02-25 2023-08-31 Asklepios Biopharmaceutical, Inc. Therapeutic adeno-associated virus for treating pompe disease with long term cessation of gaa enzyme replacement therapy
CN117551636B (zh) * 2023-04-30 2024-11-08 四川至善唯新生物科技有限公司 工程化α-GAL A肽及其功能变体和治疗法布里病的相关方法

Family Cites Families (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR100545945B1 (ko) * 2000-07-03 2006-01-25 갈라 디자인, 인크. 발현 벡터
US6852510B2 (en) * 2000-07-03 2005-02-08 Gala Design Inc Host cells containing multiple integrating vectors
GB0024550D0 (https=) * 2000-10-06 2000-11-22 Oxford Biomedica Ltd
AU2003221733A1 (en) * 2002-04-17 2003-11-03 University Of Florida Research Foundation, Inc. Improved raav vectors
EP1995309A1 (en) * 2007-05-21 2008-11-26 Vivalis Recombinant protein production in avian EBx® cells
US8865881B2 (en) * 2011-02-22 2014-10-21 California Institute Of Technology Delivery of proteins using adeno-associated virus (AAV) vectors
EP2708600A4 (en) * 2011-04-28 2015-01-07 Univ Yamaguchi REVERSE PRIMER WITH A TERMINATION SEQUENCE FOR OVEREXPRESSION AND LINEAR DNA
CA3019315A1 (en) * 2015-04-23 2016-10-27 University Of Massachusetts Modulation of aav vector transgene expression
US10179918B2 (en) * 2015-05-07 2019-01-15 Sangamo Therapeutics, Inc. Methods and compositions for increasing transgene activity
WO2016210170A1 (en) * 2015-06-23 2016-12-29 The Children's Hospital Of Philadelphia Modified factor ix, and compositions, methods and uses for gene transfer to cells, organs and tissues
CN105950664B (zh) * 2016-05-17 2019-03-29 上海优卡迪生物医药科技有限公司 一种靶向cd123的复制缺陷性重组慢病毒car-t转基因载体及其构建方法和应用
AU2017266932B2 (en) * 2016-05-18 2023-04-20 Modernatx, Inc. Polynucleotides encoding alpha-galactosidase A for the treatment of Fabry disease
CA3039673A1 (en) * 2016-10-20 2018-04-26 Sangamo Therapeutics, Inc. Methods and compositions for the treatment of fabry disease
JOP20190200A1 (ar) * 2017-02-28 2019-08-27 Univ Pennsylvania تركيبات نافعة في معالجة ضمور العضل النخاعي
CA3089587A1 (en) * 2018-02-08 2019-08-15 Sangamo Therapeutics, Inc. Engineered target specific nucleases
DE102020111571A1 (de) * 2020-03-11 2021-09-16 Immatics US, Inc. Wpre-mutantenkonstrukte, zusammensetzungen und zugehörige verfahren

Also Published As

Publication number Publication date
US20200239911A1 (en) 2020-07-30
JP2025142225A (ja) 2025-09-30
MX2021008131A (es) 2021-10-13
CN113423419A (zh) 2021-09-21
AU2020204718B2 (en) 2026-02-12
IL284414A (en) 2021-08-31
KR20210112337A (ko) 2021-09-14
JP7716338B2 (ja) 2025-07-31
BR112021012249A2 (pt) 2021-09-08
SG11202107325TA (en) 2021-08-30
JP2022516317A (ja) 2022-02-25
EP3906043A4 (en) 2022-10-26
WO2020142752A1 (en) 2020-07-09
AU2020204718A1 (en) 2021-07-08
EP3906043A1 (en) 2021-11-10

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