CA3100213A1 - Codon-optimized acid .alpha.-glucosidase expression cassettes and methods of using same - Google Patents

Codon-optimized acid .alpha.-glucosidase expression cassettes and methods of using same Download PDF

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Publication number
CA3100213A1
CA3100213A1 CA3100213A CA3100213A CA3100213A1 CA 3100213 A1 CA3100213 A1 CA 3100213A1 CA 3100213 A CA3100213 A CA 3100213A CA 3100213 A CA3100213 A CA 3100213A CA 3100213 A1 CA3100213 A1 CA 3100213A1
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Prior art keywords
nucleic acid
gaa
aav
sequence
cpg dinucleotides
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Pending
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CA3100213A
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English (en)
French (fr)
Inventor
Xavier ANGUELA
Sean ARMOUR
Jayme NORDIN
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Spark Therapeutics Inc
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Spark Therapeutics Inc
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Publication of CA3100213A1 publication Critical patent/CA3100213A1/en
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    • C12N9/00Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14Hydrolases (3)
    • C12N9/24Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • C12N9/2405Glucanases
    • C12N9/2408Glucanases acting on alpha -1,4-glucosidic bonds
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00Medicinal preparations containing peptides
    • A61K38/16Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46Hydrolases (3)
    • A61K38/47Hydrolases (3) acting on glycosyl compounds (3.2), e.g. cellulases, lactases
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005Medicinal 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
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • C12N15/09Recombinant DNA-technology
    • C12N15/63Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86Viral vectors
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    • C12Y302/00Hydrolases acting on glycosyl compounds, i.e. glycosylases (3.2)
    • C12Y302/01Glycosidases, i.e. enzymes hydrolysing O- and S-glycosyl compounds (3.2.1)
    • C12Y302/0102Alpha-glucosidase (3.2.1.20)
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/07Animals genetically altered by homologous recombination
    • A01K2217/075Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00Animals characterised by species
    • A01K2227/10Mammal
    • A01K2227/105Murine
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00Animals characterised by purpose
    • A01K2267/03Animal model, e.g. for test or diseases
    • A01K2267/0306Animal model for genetic diseases
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
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    • C12N2750/00MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011Details
    • C12N2750/14011Parvoviridae
    • C12N2750/14111Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141Use of virus, viral particle or viral elements as a vector
    • C12N2750/14143Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector
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    • C12N2750/00MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011Details
    • C12N2750/14011Parvoviridae
    • C12N2750/14111Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14151Methods of production or purification of viral material
    • C12N2750/14152Methods of production or purification of viral material relating to complementing cells and packaging systems for producing virus or viral particles
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2800/00Nucleic acids vectors
    • C12N2800/22Vectors comprising a coding region that has been codon optimised for expression in a respective host
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2830/00Vector systems having a special element relevant for transcription
    • C12N2830/001Vector systems having a special element relevant for transcription controllable enhancer/promoter combination
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2830/00Vector systems having a special element relevant for transcription
    • C12N2830/50Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal

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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)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Medicinal Chemistry (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Biomedical Technology (AREA)
  • Microbiology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Epidemiology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Virology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Chemical & Material Sciences (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Neurology (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Immunology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicinal Preparation (AREA)
CA3100213A 2018-05-16 2019-05-15 Codon-optimized acid .alpha.-glucosidase expression cassettes and methods of using same Pending CA3100213A1 (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201862672419P 2018-05-16 2018-05-16
US62/672,419 2018-05-16
US201862734454P 2018-09-21 2018-09-21
US62/734,454 2018-09-21
PCT/US2019/032502 WO2019222411A1 (en) 2018-05-16 2019-05-15 Codon-optimized acid αlpha-glucosidase expression cassettes and methods of using same

Publications (1)

Publication Number Publication Date
CA3100213A1 true CA3100213A1 (en) 2019-11-21

Family

ID=68540790

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3100213A Pending CA3100213A1 (en) 2018-05-16 2019-05-15 Codon-optimized acid .alpha.-glucosidase expression cassettes and methods of using same

Country Status (17)

Country Link
US (2) US12084693B2 (https=)
EP (1) EP3794043A4 (https=)
JP (2) JP2021523718A (https=)
KR (1) KR20210021310A (https=)
CN (1) CN112334489A (https=)
AU (1) AU2019268363A1 (https=)
BR (1) BR112020023393A2 (https=)
CA (1) CA3100213A1 (https=)
CL (1) CL2020002973A1 (https=)
CO (1) CO2020015707A2 (https=)
MX (1) MX2020012332A (https=)
MY (1) MY207355A (https=)
PE (1) PE20210337A1 (https=)
PH (1) PH12020551957A1 (https=)
SG (1) SG11202011191WA (https=)
TW (1) TW202016310A (https=)
WO (1) WO2019222411A1 (https=)

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DK3635009T3 (da) 2017-06-07 2026-03-30 Regeneron Pharma Sammensætninger og fremgangsmåder til internalisering af enzymer
US12258597B2 (en) 2018-02-07 2025-03-25 Regeneron Pharmaceuticals, Inc. Methods and compositions for therapeutic protein delivery
BR112020023145A2 (pt) 2018-05-17 2021-02-02 Regeneron Pharmaceuticals, Inc. anticorpo anti-cd63 ou fragmento de ligação ao antígeno do mesmo, molécula de ligação ao antígeno biespecífica, proteína terapêutica de múltiplos domínios, polinucleotídeo composição farmacêutica, e, composto
US12018087B2 (en) 2018-08-02 2024-06-25 Dyne Therapeutics, Inc. Muscle-targeting complexes comprising an anti-transferrin receptor antibody linked to an oligonucleotide and methods of delivering oligonucleotide to a subject
BR112021003399A2 (pt) 2018-08-24 2021-05-18 Spark Therapeutics, Inc. sequências de promotores otimizadas, construtos de expressão livres de íntron e métodos de uso
EP3996696A1 (en) * 2019-07-09 2022-05-18 Genethon Treatment of glycogen storage disease (gsd)
JP2023507575A (ja) 2019-12-20 2023-02-24 コデクシス, インコーポレイテッド 操作された酸性アルファ-グルコシダーゼバリアント
MX2023008362A (es) * 2021-01-14 2023-10-04 Spark Therapeutics Inc Composiciones y metodos para el tratamiento de la enfermedad de fabry.
CR20240137A (es) * 2021-08-20 2024-07-29 Biocad Joint Stock Co Método para obtener una cápside de virus adenoasociado modificada
CA3229998A1 (en) * 2021-08-25 2023-03-02 Canbridge Pharmaceuticals, Inc. Aav particles comprising a liver-tropic capsid protein and alpha-galactosidase and their use to treat fabry disease
AR126877A1 (es) * 2021-08-25 2023-11-22 Canbridge Pharmaceuticals Inc PARTÍCULAS DE AAV QUE COMPRENDEN UNA PROTEÍNA DE LA CÁPSIDE HEPATOTRÓPICA Y a-GLUCOSIDASA ÁCIDA (GAA) Y SU USO PARA TRATAR LA ENFERMEDAD DE POMPE
CA3242731A1 (en) * 2022-02-02 2023-08-10 Regeneron Pharmaceuticals, Inc. Anti-tfr:gaa and anti-cd63:gaa insertions for treatment of pompe disease
CN118667797A (zh) * 2023-03-14 2024-09-20 北京据德医药科技有限公司 一种重组酸性α-葡萄糖苷酶及其用途
WO2024231820A1 (en) * 2023-05-05 2024-11-14 Takeda Pharmaceutical Company Limited Treatment of pompe disease
IL326018A (en) * 2023-07-28 2026-03-01 Regeneron Pharma Introduction of anti-TFR:GAA and anti-CD63:GAA for the treatment of Pompe disease

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CN103443273B (zh) 2011-03-16 2016-10-26 天野酶制品株式会社 修饰型α-葡萄糖苷酶及其用途
WO2013151665A2 (en) * 2012-04-02 2013-10-10 modeRNA Therapeutics Modified polynucleotides for the production of proteins associated with human disease
CN104411338A (zh) * 2012-04-02 2015-03-11 现代治疗公司 用于产生与人类疾病相关的生物制剂和蛋白质的修饰多核苷酸
NZ701693A (en) * 2012-04-18 2017-02-24 The Children’S Hospital Of Philadelphia Composition and methods for highly efficient gene transfer using aav capsid variants
WO2015042064A1 (en) * 2013-09-17 2015-03-26 Edeniq, Inc. Improved beta-glucosidase enzymes for increased biomass saccharification
AU2014354839B2 (en) * 2013-11-26 2020-06-04 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Adeno-associated virus vectors for treatment of glycogen storage disease
US10781459B2 (en) * 2014-06-20 2020-09-22 University Of Florida Research Foundation, Incorporated Methods of packaging multiple adeno-associated virus vectors
EP3211076A4 (en) 2014-10-20 2018-03-21 Showa Sangyo Co., Ltd. Novel alpha-glucosidase
WO2018046774A1 (en) * 2016-09-12 2018-03-15 Genethon Acid-alpha glucosidase variants and uses thereof
EP3293203A1 (en) * 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
EP3293259A1 (en) 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
JP2022513067A (ja) * 2018-11-16 2022-02-07 アスクレピオス バイオファーマシューティカル, インコーポレイテッド ポンペ病を処置するための治療用アデノ随伴ウイルス

Also Published As

Publication number Publication date
WO2019222411A1 (en) 2019-11-21
CO2020015707A2 (es) 2021-03-19
AU2019268363A1 (en) 2021-01-07
US20210222141A1 (en) 2021-07-22
BR112020023393A2 (pt) 2021-02-09
CN112334489A (zh) 2021-02-05
US12084693B2 (en) 2024-09-10
PH12020551957A1 (en) 2021-09-20
CL2020002973A1 (es) 2021-07-19
MX2020012332A (es) 2021-02-26
KR20210021310A (ko) 2021-02-25
EP3794043A1 (en) 2021-03-24
JP2025066765A (ja) 2025-04-23
SG11202011191WA (en) 2020-12-30
JP2021523718A (ja) 2021-09-09
EP3794043A4 (en) 2022-02-23
US20250101396A1 (en) 2025-03-27
TW202016310A (zh) 2020-05-01
MY207355A (en) 2025-02-21
PE20210337A1 (es) 2021-02-19

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