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
Application number
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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    • 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)
    • C12N9/2405—Glucanases
    • C12N9/2408—Glucanases acting on alpha -1,4-glucosidic bonds
    • 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
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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
    • 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)
    • C12Y302/0102—Alpha-glucosidase (3.2.1.20)
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
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    • 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
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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
    • C12N2750/14151—Methods of production or purification of viral material
    • C12N2750/14152—Methods of production or purification of viral material relating to complementing cells and packaging systems for producing virus or viral particles
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • 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
    • C12N2830/001—Vector systems having a special element relevant for transcription controllable 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
    • C12N2830/50—Vector 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)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Immunology (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Neurology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Proteomics, Peptides & Aminoacids (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 (enExample)
EP (1) EP3794043A4 (enExample)
JP (2) JP2021523718A (enExample)
KR (1) KR20210021310A (enExample)
CN (1) CN112334489A (enExample)
AU (1) AU2019268363A1 (enExample)
BR (1) BR112020023393A2 (enExample)
CA (1) CA3100213A1 (enExample)
CL (1) CL2020002973A1 (enExample)
CO (1) CO2020015707A2 (enExample)
MX (1) MX2020012332A (enExample)
MY (1) MY207355A (enExample)
PE (1) PE20210337A1 (enExample)
PH (1) PH12020551957A1 (enExample)
SG (1) SG11202011191WA (enExample)
TW (1) TW202016310A (enExample)
WO (1) WO2019222411A1 (enExample)

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Publication number Priority date Publication date Assignee Title
AU2018281280B2 (en) 2017-06-07 2024-12-19 Regeneron Pharmaceuticals, Inc. Compositions and methods for internalizing enzymes
CN112040985A (zh) 2018-02-07 2020-12-04 瑞泽恩制药公司 用于递送治疗性蛋白质的方法和组合物
EP3793591A1 (en) 2018-05-17 2021-03-24 Regeneron Pharmaceuticals, Inc. Anti-cd63 antibodies, conjugates, and uses thereof
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
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
EP3996696A1 (en) * 2019-07-09 2022-05-18 Genethon Treatment of glycogen storage disease (gsd)
MX2022007399A (es) 2019-12-20 2022-09-19 Codexis Inc Variantes de alfa-glucosidasa ácida diseñadas.
PE20240915A1 (es) * 2021-01-14 2024-04-30 Spark Therapeutics Inc Composiciones y metodos para tratar la enfermedad de fabry
CA3229580A1 (en) * 2021-08-20 2023-02-23 Anna Nikolaevna STRELKOVA Method for producing modified adeno-associated virus capsid
WO2023028567A2 (en) * 2021-08-25 2023-03-02 Canbridge Pharmaceuticals, Inc. Aav particles comprising a liver-tropic capsid protein and acid alpha-glucosidase (gaa) and their use to treat pompe disease
EP4392569A4 (en) * 2021-08-25 2025-07-16 Canbridge Pharmaceuticals Inc AAV PARTICLES COMPRISING A LIVER-TROPIC CAPSID PROTEIN AND AN ALPHA-GALACTOSIDASE AND THEIR USE FOR TREATING FABRY DISEASE
IL314482A (en) * 2022-02-02 2024-09-01 Regeneron Pharma 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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EP2687597B1 (en) 2011-03-16 2018-12-26 Amano Enzyme Inc. Modified alpha-glucosidase and applications of same
WO2013151664A1 (en) 2012-04-02 2013-10-10 modeRNA Therapeutics Modified polynucleotides for the production of proteins
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
JP6342886B2 (ja) * 2012-04-18 2018-06-13 ザ・チルドレンズ・ホスピタル・オブ・フィラデルフィアＴｈｅ Ｃｈｉｌｄｒｅｎ’Ｓ Ｈｏｓｐｉｔａｌ Ｏｆ Ｐｈｉｌａｄｅｌｐｈｉａ Ａａｖカプシドバリアントを使用した高効率な遺伝子導入のための組成物及び方法
US10077436B2 (en) * 2013-09-17 2018-09-18 Edeniq, Inc. Beta-glucosidase enzymes for increased biomass saccharification
JP6649265B2 (ja) * 2013-11-26 2020-02-19 ザ ユナイテッド ステイツ オブ アメリカ， アズ リプレゼンテッド バイ ザ セクレタリー， デパートメント オブ ヘルス アンド ヒューマン サービシーズ 糖原病の処置のためのアデノ随伴ウイルスベクター
US10781459B2 (en) * 2014-06-20 2020-09-22 University Of Florida Research Foundation, Incorporated Methods of packaging multiple adeno-associated virus vectors
WO2016063331A1 (ja) 2014-10-20 2016-04-28 昭和産業株式会社 新規α－グルコシダーゼ
EP3293259A1 (en) * 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
EP3293203A1 (en) * 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
KR102617502B1 (ko) * 2016-09-12 2023-12-26 제네똥 산-알파 글루코시다제 변이체 및 이의 용도
WO2020102645A1 (en) * 2018-11-16 2020-05-22 Asklepios Biopharmaceutical, Inc. Therapeutic adeno-associated virus for treating pompe disease

Also Published As

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

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