CA3216285A1 - Compositions and methods for in vivo nuclease-mediated gene targeting for the treatment of genetic disorders - Google Patents

Compositions and methods for in vivo nuclease-mediated gene targeting for the treatment of genetic disorders Download PDF

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Publication number
CA3216285A1
CA3216285A1 CA3216285A CA3216285A CA3216285A1 CA 3216285 A1 CA3216285 A1 CA 3216285A1 CA 3216285 A CA3216285 A CA 3216285A CA 3216285 A CA3216285 A CA 3216285A CA 3216285 A1 CA3216285 A1 CA 3216285A1
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Prior art keywords
vector
aav
pcsk9
gene
nuclease
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CA3216285A
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English (en)
French (fr)
Inventor
Lili Wang
James M. Wilson
Anna Tretiakova
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University of Pennsylvania
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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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • 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
    • A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • A61K38/177—Receptors; Cell surface antigens; Cell surface determinants
    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P1/00—Drugs for disorders of the alimentary tract or the digestive system
    • A61P1/16—Drugs for disorders of the alimentary tract or the digestive system for liver or gallbladder disorders, e.g. hepatoprotective agents, cholagogues, litholytics
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • C—CHEMISTRY; METALLURGY
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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
    • 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
    • C12N15/87—Introduction of foreign genetic material using processes not otherwise provided for, e.g. co-transformation
    • C12N15/88—Introduction of foreign genetic material using processes not otherwise provided for, e.g. co-transformation using microencapsulation, e.g. using amphiphile liposome vesicle
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C12N9/22—Ribonucleases [RNase]; Deoxyribonucleases [DNase]
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/01—Fusion polypeptide containing a localisation/targetting motif
    • C07K2319/09—Fusion polypeptide containing a localisation/targetting motif containing a nuclear localisation signal
    • 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
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/20—Type of nucleic acid involving clustered regularly interspaced short palindromic repeats [CRISPR]
    • 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
    • C12N2800/00—Nucleic acids vectors
    • C12N2800/40—Systems of functionally co-operating vectors
    • 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)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biomedical Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Epidemiology (AREA)
  • Virology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Gastroenterology & Hepatology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Cell Biology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
CA3216285A 2021-04-27 2022-04-27 Compositions and methods for in vivo nuclease-mediated gene targeting for the treatment of genetic disorders Pending CA3216285A1 (en)

Applications Claiming Priority (11)

Application Number Priority Date Filing Date Title
US202163180603P 2021-04-27 2021-04-27
US63/180,603 2021-04-27
US202163242474P 2021-09-09 2021-09-09
US63/242,474 2021-09-09
US202163244205P 2021-09-14 2021-09-14
US63/244,205 2021-09-14
US202263301933P 2022-01-21 2022-01-21
US63/301,933 2022-01-21
US202263331385P 2022-04-15 2022-04-15
US63/331,385 2022-04-15
PCT/US2022/026483 WO2022232232A1 (en) 2021-04-27 2022-04-27 Compositions and methods for in vivo nuclease-mediated gene targeting for the treatment of genetic disorders

Publications (1)

Publication Number Publication Date
CA3216285A1 true CA3216285A1 (en) 2022-11-03

Family

ID=83847293

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3216285A Pending CA3216285A1 (en) 2021-04-27 2022-04-27 Compositions and methods for in vivo nuclease-mediated gene targeting for the treatment of genetic disorders

Country Status (12)

Country Link
US (1) US20240197916A1 (enExample)
EP (1) EP4330412A4 (enExample)
JP (1) JP2024519469A (enExample)
KR (1) KR20240001708A (enExample)
AU (1) AU2022266662A1 (enExample)
BR (1) BR112023021129A2 (enExample)
CA (1) CA3216285A1 (enExample)
CO (1) CO2023016031A2 (enExample)
IL (1) IL307958A (enExample)
MX (1) MX2023012747A (enExample)
TW (1) TW202304528A (enExample)
WO (1) WO2022232232A1 (enExample)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP4466367A4 (en) * 2022-01-21 2026-03-18 Univ Pennsylvania METHODS FOR THE TREATMENT OF ORNITHIN TRANSCARBAMYLASE (OTC) DEFICIENCY
CN119998446A (zh) 2022-06-07 2025-05-13 斯克里贝治疗公司 用于靶向pcsk9的组合物和方法
WO2024015972A2 (en) * 2022-07-14 2024-01-18 The Trustees Of The University Of Pennsylvania Compositions and methods for in vivo nuclease-mediated gene targeting for the treatment of genetic disorders in adult patients
KR20260027890A (ko) * 2023-04-28 2026-03-03 오스페달레 산 라파엘 에스.알.엘. 벡터 생산
EP4735603A2 (en) * 2023-06-30 2026-05-06 nChroma Bio, Inc. Guide rna compositions
CN116790604B (zh) * 2023-08-18 2023-10-27 成都中科奥格生物科技有限公司 一种sgRNA、CRISPR/Cas9载体及其构建方法和用途
WO2025217184A1 (en) * 2024-04-08 2025-10-16 The Trustees Of The University Of Pennsylvania Compositions and methods for in vivo nuclease-mediated treatment of phenylketonuria (pku)
WO2025217186A1 (en) * 2024-04-08 2025-10-16 The Trustees Of The University Of Pennsylvania Compositions and methods for in vivo nuclease-mediated treatment of citrullinemia type 1 (ctln1)

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP6851319B2 (ja) * 2015-04-27 2021-03-31 ザ・トラステイーズ・オブ・ザ・ユニバーシテイ・オブ・ペンシルベニア ヒト疾患のＣＲＩＳＰＲ／Ｃａｓ９媒介性の修正のためのデュアルＡＡＶベクター系
WO2017141109A1 (en) * 2016-02-18 2017-08-24 Crispr Therapeutics Ag Materials and methods for treatment of severe combined immunodeficiency (scid) or omenn syndrome
US11083799B2 (en) * 2016-03-16 2021-08-10 Crispr Therapeutics Ag Materials and methods for treatment of hereditary haemochromatosis
WO2018058064A1 (en) * 2016-09-23 2018-03-29 Casebia Therapeutics Limited Liability Partnership Compositions and methods for gene editing
EP4269596A3 (en) * 2017-04-21 2024-02-14 Precision Biosciences, Inc. Engineered meganucleases specific for recognition sequences in the pcsk9 gene
EP3714048B1 (en) * 2017-11-22 2025-04-09 ModernaTX, Inc. Polynucleotides encoding ornithine transcarbamylase for the treatment of urea cycle disorders

Also Published As

Publication number Publication date
MX2023012747A (es) 2024-01-05
KR20240001708A (ko) 2024-01-03
TW202304528A (zh) 2023-02-01
JP2024519469A (ja) 2024-05-14
AU2022266662A9 (en) 2023-11-16
WO2022232232A1 (en) 2022-11-03
AU2022266662A1 (en) 2023-11-02
BR112023021129A2 (pt) 2023-12-12
US20240197916A1 (en) 2024-06-20
EP4330412A1 (en) 2024-03-06
IL307958A (en) 2023-12-01
EP4330412A4 (en) 2026-01-28
CO2023016031A2 (es) 2023-12-11

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