CA3111047A1 - Optimized promoter sequences, intron-free expression constructs and methods of use - Google Patents

Optimized promoter sequences, intron-free expression constructs and methods of use Download PDF

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Publication number
CA3111047A1
CA3111047A1 CA3111047A CA3111047A CA3111047A1 CA 3111047 A1 CA3111047 A1 CA 3111047A1 CA 3111047 A CA3111047 A CA 3111047A CA 3111047 A CA3111047 A CA 3111047A CA 3111047 A1 CA3111047 A1 CA 3111047A1
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Canada
Prior art keywords
nucleic acid
seq
acid sequence
cpg
modified
Prior art date
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Pending
Application number
CA3111047A
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English (en)
French (fr)
Inventor
Xavier ANGUELA
Liron Elkouby
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Spark Therapeutics Inc
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Spark Therapeutics Inc
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Publication of CA3111047A1 publication Critical patent/CA3111047A1/en
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    • 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
    • A61K48/0066Manipulation of the nucleic acid to modify its expression pattern, e.g. enhance its duration of expression, achieved by the presence of particular introns in the delivered nucleic acid
    • 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
    • A61K48/0058Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K9/00Medicinal preparations characterised by special physical form
    • A61K9/0012Galenical forms characterised by the site of application
    • A61K9/0019Injectable compositions; Intramuscular, intravenous, arterial, subcutaneous administration; Compositions to be administered through the skin in an invasive manner
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P7/00Drugs for disorders of the blood or the extracellular fluid
    • A61P7/04Antihaemorrhagics; Procoagulants; Haemostatic agents; Antifibrinolytic agents
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/745Blood coagulation or fibrinolysis factors
    • C07K14/755Factors VIII, e.g. factor VIII C (AHF), factor VIII Ag (VWF)
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/775Apolipopeptides
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/81Protease inhibitors
    • C07K14/8107Endopeptidase (E.C. 3.4.21-99) inhibitors
    • C07K14/811Serine protease (E.C. 3.4.21) inhibitors
    • C07K14/8121Serpins
    • C07K14/8125Alpha-1-antitrypsin
    • 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
    • C12N15/00Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • 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
    • 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
    • C12N7/00Viruses; Bacteriophages; Compositions thereof; Preparation or purification thereof
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00Medicinal preparations containing peptides
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K2319/00Fusion polypeptide
    • 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
    • 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
    • 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
    • C12N2800/00Nucleic acids vectors
    • C12N2800/22Vectors comprising a coding region that has been codon optimised for expression in a respective host

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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Wood Science & Technology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Epidemiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Toxicology (AREA)
  • Virology (AREA)
  • Hematology (AREA)
  • Microbiology (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Diabetes (AREA)
  • Dermatology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicinal Preparation (AREA)
CA3111047A 2018-08-24 2019-08-23 Optimized promoter sequences, intron-free expression constructs and methods of use Pending CA3111047A1 (en)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US201862722547P 2018-08-24 2018-08-24
US62/722,547 2018-08-24
US201862725096P 2018-08-30 2018-08-30
US62/725,096 2018-08-30
US201862784116P 2018-12-21 2018-12-21
US62/784,116 2018-12-21
PCT/US2019/048032 WO2020041773A1 (en) 2018-08-24 2019-08-23 Optimized promoter sequences, intron-free expression constructs and methods of use

Publications (1)

Publication Number Publication Date
CA3111047A1 true CA3111047A1 (en) 2020-02-27

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
CA3111047A Pending CA3111047A1 (en) 2018-08-24 2019-08-23 Optimized promoter sequences, intron-free expression constructs and methods of use

Country Status (10)

Country Link
US (1) US12290574B2 (enExample)
EP (1) EP3840775A4 (enExample)
JP (2) JP2021533805A (enExample)
CN (1) CN113226352B (enExample)
AU (2) AU2019325688B2 (enExample)
BR (1) BR112021003399A2 (enExample)
CA (1) CA3111047A1 (enExample)
MX (1) MX2021002198A (enExample)
TW (1) TW202012425A (enExample)
WO (1) WO2020041773A1 (enExample)

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SG11202007363TA (en) 2018-02-07 2020-08-28 Regeneron Pharma Methods and compositions for therapeutic protein delivery
US12252544B2 (en) 2018-05-17 2025-03-18 Regeneron Pharmaceuticals, Inc. Anti-CD63 antibodies, conjugates, and uses thereof
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CA3218126A1 (en) * 2021-05-07 2022-11-10 Matthew MANGANIELLO Lyophilized non-viral dna vector compositions and uses thereof
KR20240005903A (ko) * 2021-05-07 2024-01-12 제너레이션 바이오 컴퍼니 백신 전달을 위한 비바이러스성 dna 벡터
WO2023211316A1 (en) * 2022-04-28 2023-11-02 Joint Stock Company "Biocad" Codon-optimized nucleic acid encoding the fviii-bdd
CN115948408A (zh) * 2022-09-23 2023-04-11 上海信致医药科技有限公司 改进的人凝血因子viii基因表达盒及其应用
EP4598590A1 (en) * 2022-10-08 2025-08-13 Lingyi Biotech Co., Ltd. Construct for enhancing gene expression
CN119242712A (zh) * 2024-09-27 2025-01-03 南京师范大学 特异性靶向骨骼肌细胞的携带miRNA-486基因的腺相关病毒载体、药物组合物

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Also Published As

Publication number Publication date
AU2019325688B2 (en) 2025-03-13
JP2021533805A (ja) 2021-12-09
BR112021003399A2 (pt) 2021-05-18
US20220362408A1 (en) 2022-11-17
TW202012425A (zh) 2020-04-01
MX2021002198A (es) 2021-07-15
US12290574B2 (en) 2025-05-06
AU2025204161A1 (en) 2025-06-26
CN113226352A (zh) 2021-08-06
WO2020041773A1 (en) 2020-02-27
EP3840775A4 (en) 2022-07-06
CN113226352B (zh) 2025-08-26
JP2024102065A (ja) 2024-07-30
AU2019325688A1 (en) 2021-03-18
EP3840775A1 (en) 2021-06-30

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