CA3142211A1 - Aav vectors with myelin protein zero promoter and uses thereof for treating schwann cell-associated diseases like charcot-marie-tooth disease - Google Patents

Aav vectors with myelin protein zero promoter and uses thereof for treating schwann cell-associated diseases like charcot-marie-tooth disease Download PDF

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Publication number
CA3142211A1
CA3142211A1 CA3142211A CA3142211A CA3142211A1 CA 3142211 A1 CA3142211 A1 CA 3142211A1 CA 3142211 A CA3142211 A CA 3142211A CA 3142211 A CA3142211 A CA 3142211A CA 3142211 A1 CA3142211 A1 CA 3142211A1
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Prior art keywords
promoter
optionally
vector
seq
sequence
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CA3142211A
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English (en)
French (fr)
Inventor
Kleopas KLEOPA
Alexia KAGIAVA
Natasa SCHIZA
Irene SARGIANNIDOU
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Cyprus Foundation For Muscular Dystrophy Research
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Cyprus Foundation For Muscular Dystrophy Research
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Publication of CA3142211A1 publication Critical patent/CA3142211A1/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
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • 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
    • 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
    • A61K48/0075—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 delivery route, e.g. oral, subcutaneous
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/02—Drugs for disorders of the nervous system for peripheral neuropathies
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
    • C07K14/70503—Immunoglobulin superfamily
    • 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
    • A01K2267/0306—Animal model for genetic diseases
    • A01K2267/0318—Animal model for neurodegenerative disease, e.g. non- Alzheimer's
    • 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
    • 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

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Zoology (AREA)
  • Biomedical Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Epidemiology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Immunology (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurosurgery (AREA)
  • General Chemical & Material Sciences (AREA)
  • Neurology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Cell Biology (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
CA3142211A 2019-06-03 2020-06-03 Aav vectors with myelin protein zero promoter and uses thereof for treating schwann cell-associated diseases like charcot-marie-tooth disease Pending CA3142211A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
GB1907882.3 2019-06-03
GBGB1907882.3A GB201907882D0 (en) 2019-06-03 2019-06-03 Methods
PCT/EP2020/065312 WO2020245169A1 (en) 2019-06-03 2020-06-03 Aav vectors with myelin protein zero promoter and uses thereof for treating schwann cell-associated diseases like charcot-marie-tooth disease

Publications (1)

Publication Number Publication Date
CA3142211A1 true CA3142211A1 (en) 2020-12-10

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
CA3142211A Pending CA3142211A1 (en) 2019-06-03 2020-06-03 Aav vectors with myelin protein zero promoter and uses thereof for treating schwann cell-associated diseases like charcot-marie-tooth disease

Country Status (16)

Country Link
US (1) US12582725B2 (https=)
EP (1) EP3976800A1 (https=)
JP (1) JP7692369B2 (https=)
KR (1) KR20220016485A (https=)
CN (1) CN114026242A (https=)
AU (1) AU2020288605A1 (https=)
BR (1) BR112021024285A2 (https=)
CA (1) CA3142211A1 (https=)
CL (1) CL2021003201A1 (https=)
CO (1) CO2021016487A2 (https=)
EA (1) EA202290001A1 (https=)
GB (1) GB201907882D0 (https=)
IL (1) IL288462A (https=)
MX (1) MX2021014789A (https=)
SG (1) SG11202112889VA (https=)
WO (1) WO2020245169A1 (https=)

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Publication number Priority date Publication date Assignee Title
US20240076665A1 (en) * 2020-12-22 2024-03-07 Wisconsin Alumni Research Foundation Regulatory elements for schwann cell-specific gene expression
CA3234702A1 (en) 2021-10-07 2023-04-13 Research Institute At Nationwide Children's Hospital Products and methods for myelin protein zero silencing and treating cmt1b disease
JP2025502269A (ja) * 2022-01-13 2025-01-24 ツールゲン インコーポレイテッド シュワン細胞特異的プロモーター
GB202303495D0 (en) * 2023-03-09 2023-04-26 Ucl Business Ltd Therapy for charcot-marie-tooth disease
WO2025105734A1 (ko) * 2023-11-15 2025-05-22 주식회사 카인사이언스 탈수초 질환 치료용 펩타이드 및 이의 용도
WO2025174135A1 (ko) * 2024-02-16 2025-08-21 주식회사 엣진 샤르코-마리-투스 질환 치료를 위한 징크 핑거 단백질 및 이를 발현시키는 방법
CN118291543A (zh) * 2024-02-29 2024-07-05 神拓生物技术(杭州)有限公司 一种二型神经纤维瘤基因治疗的慢病毒载体及其应用
KR20260001543A (ko) * 2024-06-25 2026-01-06 연세대학교 산학협력단 바이러스 벡터를 포함한 난청 치료용 조성물

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Also Published As

Publication number Publication date
KR20220016485A (ko) 2022-02-09
BR112021024285A2 (pt) 2022-01-11
CN114026242A (zh) 2022-02-08
JP7692369B2 (ja) 2025-06-13
SG11202112889VA (en) 2021-12-30
IL288462A (en) 2022-01-01
CO2021016487A2 (es) 2022-01-17
EP3976800A1 (en) 2022-04-06
MX2021014789A (es) 2022-02-11
WO2020245169A1 (en) 2020-12-10
US20220323611A1 (en) 2022-10-13
AU2020288605A1 (en) 2022-02-03
CL2021003201A1 (es) 2023-02-03
EA202290001A1 (ru) 2022-03-28
US12582725B2 (en) 2026-03-24
JP2022535412A (ja) 2022-08-08
GB201907882D0 (en) 2019-07-17

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