CA3054941A1 - Gene therapy constructs and methods for treatment of hearing loss - Google Patents

Gene therapy constructs and methods for treatment of hearing loss Download PDF

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Publication number
CA3054941A1
CA3054941A1 CA3054941A CA3054941A CA3054941A1 CA 3054941 A1 CA3054941 A1 CA 3054941A1 CA 3054941 A CA3054941 A CA 3054941A CA 3054941 A CA3054941 A CA 3054941A CA 3054941 A1 CA3054941 A1 CA 3054941A1
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Canada
Prior art keywords
nucleic acid
promoters
tmprss3
hearing loss
seq
Prior art date
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Pending
Application number
CA3054941A
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English (en)
French (fr)
Inventor
Hinrich Staecker
Xue Zhong Liu
Zheng-yi CHEN
Caesar James Ayala
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Rescue Hearing Inc
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Rescue Hearing Inc
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Application filed by Rescue Hearing Inc filed Critical Rescue Hearing Inc
Publication of CA3054941A1 publication Critical patent/CA3054941A1/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
    • A61K48/0058Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct
    • 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
    • C12N9/00Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14Hydrolases (3)
    • C12N9/48Hydrolases (3) acting on peptide bonds (3.4)
    • C12N9/50Proteinases, e.g. Endopeptidases (3.4.21-3.4.25)
    • C12N9/64Proteinases, e.g. Endopeptidases (3.4.21-3.4.25) derived from animal tissue
    • C12N9/6421Proteinases, e.g. Endopeptidases (3.4.21-3.4.25) derived from animal tissue from mammals
    • C12N9/6424Serine endopeptidases (3.4.21)
    • 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
    • A01K67/00Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/027New or modified breeds of vertebrates
    • A01K67/0275Genetically modified vertebrates, e.g. transgenic
    • 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
    • A01K67/00Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/027New or modified breeds of vertebrates
    • A01K67/0275Genetically modified vertebrates, e.g. transgenic
    • A01K67/0278Knock-in vertebrates, e.g. humanised vertebrates
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K35/00Medicinal preparations containing materials or reaction products thereof with undetermined constitution
    • A61K35/66Microorganisms or materials therefrom
    • A61K35/76Viruses; Subviral particles; Bacteriophages
    • 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
    • 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
    • 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
    • A61K48/0075Medicinal 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 delivery route, e.g. oral, subcutaneous
    • 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
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K9/00Medicinal preparations characterised by special physical form
    • A61K9/0012Galenical forms characterised by the site of application
    • A61K9/0046Ear
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00Drugs for disorders of the senses
    • A61P27/16Otologicals
    • 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
    • C07K14/46Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
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    • 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
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    • C12N5/00Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
    • C12N5/06Animal cells or tissues; Human cells or tissues
    • C12N5/0602Vertebrate cells
    • C12N5/0696Artificially induced pluripotent stem cells, e.g. iPS
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    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N7/00Viruses; Bacteriophages; Compositions thereof; Preparation or purification thereof
    • 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
    • A01K2217/072Animals genetically altered by homologous recombination maintaining or altering function, i.e. knock in
    • 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
    • CCHEMISTRY; METALLURGY
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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
    • C12N2750/14122New viral proteins or individual genes, new structural or functional aspects of known viral proteins or genes
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    • 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
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    • C12N2750/00011Details
    • C12N2750/14011Parvoviridae
    • C12N2750/14111Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14171Demonstrated in vivo effect

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  • Health & Medical Sciences (AREA)
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  • Biotechnology (AREA)
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  • Animal Behavior & Ethology (AREA)
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  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Pharmacology & Pharmacy (AREA)
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  • General Engineering & Computer Science (AREA)
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  • Environmental Sciences (AREA)
  • Virology (AREA)
  • Biophysics (AREA)
  • Biodiversity & Conservation Biology (AREA)
  • Animal Husbandry (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
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  • Gastroenterology & Hepatology (AREA)
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  • Mycology (AREA)
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CA3054941A 2017-03-17 2018-03-16 Gene therapy constructs and methods for treatment of hearing loss Pending CA3054941A1 (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201762472790P 2017-03-17 2017-03-17
US62/472,790 2017-03-17
US201762531522P 2017-07-12 2017-07-12
US62/531,522 2017-07-12
PCT/US2018/022873 WO2018170402A1 (en) 2017-03-17 2018-03-16 Gene therapy constructs and methods for treatment of hearing loss

Publications (1)

Publication Number Publication Date
CA3054941A1 true CA3054941A1 (en) 2018-09-20

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CA3054941A Pending CA3054941A1 (en) 2017-03-17 2018-03-16 Gene therapy constructs and methods for treatment of hearing loss

Country Status (10)

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US (2) US20200248203A1 (enExample)
EP (1) EP3595634B1 (enExample)
JP (1) JP2020509786A (enExample)
KR (1) KR102752457B1 (enExample)
CN (1) CN110709060A (enExample)
BR (1) BR112019019367A2 (enExample)
CA (1) CA3054941A1 (enExample)
ES (1) ES2982270T3 (enExample)
IL (1) IL268912B2 (enExample)
WO (1) WO2018170402A1 (enExample)

Cited By (1)

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CN112442528A (zh) * 2019-08-30 2021-03-05 深圳华大基因股份有限公司 Loxhd1基因突变体及其应用

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US12391936B2 (en) 2017-03-17 2025-08-19 Rescue Hearing, Inc. Gene therapy systems and related methods for treatment of hearing loss
IL295265A (en) * 2020-02-05 2022-10-01 Rescue Hearing Inc Gene therapy systems and related methods for treatment of hearing loss
EP4008788A1 (en) * 2020-12-03 2022-06-08 Medizinische Hochschule Hannover Lentiviral vector technology for inner ear gene therapy
CN113584082B (zh) * 2021-06-22 2023-07-25 复旦大学附属眼耳鼻喉科医院 CRISPR/Cas9基因编辑系统及其在制备治疗遗传性感音神经性聋的药物中的应用
CN113215248B (zh) * 2021-06-25 2022-04-22 中国人民解放军空军军医大学 一种感音神经性耳聋相关的myo15a基因突变检测试剂盒
WO2024259309A1 (en) * 2023-06-15 2024-12-19 Regeneron Pharmaceuticals, Inc. Gene therapy for hearing disorders

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EP1280923A2 (en) * 2000-04-28 2003-02-05 Millennium Pharmaceuticals, Inc. 14094, a human trypsin family member and uses thereof
WO2004099779A1 (en) * 2003-05-05 2004-11-18 Bayer Healthcare Ag Diagnostics and therapeutics for diseases associated with human transmembrane serine protease 3 (tmprss3)
ZA200800970B (en) * 2005-08-15 2009-10-28 Genentech Inc Gene disruptions, compositions and methods relating thereto
WO2011075838A1 (en) 2009-12-21 2011-06-30 Audigen Inc. Method of treating or preventing hearing loss
US20150050354A1 (en) * 2012-04-02 2015-02-19 Moderna Therapeutics, Inc. Modified polynucleotides for the treatment of otic diseases and conditions
EP2877213B1 (en) 2012-07-25 2020-12-02 The Broad Institute, Inc. Inducible dna binding proteins and genome perturbation tools and applications thereof
US20160237455A1 (en) 2013-09-27 2016-08-18 Editas Medicine, Inc. Crispr-related methods and compositions
JP6552511B2 (ja) 2013-10-11 2019-07-31 マサチューセッツ アイ アンド イヤー インファーマリー 祖先ウイルス配列を予測する方法およびその使用
WO2015175642A2 (en) * 2014-05-13 2015-11-19 Sangamo Biosciences, Inc. Methods and compositions for prevention or treatment of a disease
WO2016069910A1 (en) 2014-10-29 2016-05-06 Massachusetts Eye And Ear Infirmary Methods for efficient delivery of therapeutic molecules in vitro and in vivo
JP6990182B2 (ja) * 2015-12-11 2022-02-15 マサチューセッツ アイ アンド イヤー インファーマリー 蝸牛および前庭細胞に核酸を送達するための材料および方法

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN112442528A (zh) * 2019-08-30 2021-03-05 深圳华大基因股份有限公司 Loxhd1基因突变体及其应用
CN112442528B (zh) * 2019-08-30 2022-08-12 深圳华大基因股份有限公司 Loxhd1基因突变体及其应用

Also Published As

Publication number Publication date
BR112019019367A2 (pt) 2020-04-14
US20200114023A1 (en) 2020-04-16
US20200248203A1 (en) 2020-08-06
KR20190131052A (ko) 2019-11-25
CN110709060A (zh) 2020-01-17
KR102752457B1 (ko) 2025-01-09
IL268912B1 (en) 2024-07-01
EP3595634A4 (en) 2020-11-04
JP2020509786A (ja) 2020-04-02
WO2018170402A1 (en) 2018-09-20
IL268912A (en) 2019-10-31
EP3595634A1 (en) 2020-01-22
ES2982270T3 (es) 2024-10-15
IL268912B2 (en) 2024-11-01
EP3595634B1 (en) 2024-03-27

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