AU2019350871B2 - Methods and compositions for increasing protein expression and/or treating a haploinsufficiency disorder - Google Patents

Methods and compositions for increasing protein expression and/or treating a haploinsufficiency disorder

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Publication number
AU2019350871B2
AU2019350871B2 AU2019350871A AU2019350871A AU2019350871B2 AU 2019350871 B2 AU2019350871 B2 AU 2019350871B2 AU 2019350871 A AU2019350871 A AU 2019350871A AU 2019350871 A AU2019350871 A AU 2019350871A AU 2019350871 B2 AU2019350871 B2 AU 2019350871B2
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AU2019350871A1 (en
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Jeffery M. COLLER
Harvey Lodish
Thomas Sweet
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Case Western Reserve University
Whitehead Institute for Biomedical Research
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Case Western Reserve University
Whitehead Institute for Biomedical Research
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    • 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
    • C12N15/67—General methods for enhancing the expression
    • 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
    • A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
    • A61K45/06—Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
    • 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
    • A61K48/0066—Manipulation 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
    • 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
    • A61P25/08—Antiepileptics; Anticonvulsants
    • 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
    • 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
    • C12N15/11—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
    • 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
    • C12N15/11—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
    • 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
    • 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
    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/34—Allele or polymorphism specific uses
    • 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
    • C12N2330/00—Production
    • C12N2330/50—Biochemical production, i.e. in a transformed host cell
    • C12N2330/51—Specially adapted 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
    • 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

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Biomedical Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Animal Behavior & Ethology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Medicinal Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Epidemiology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Virology (AREA)
  • Pain & Pain Management (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Enzymes And Modification Thereof (AREA)
AU2019350871A 2018-09-26 2019-09-26 Methods and compositions for increasing protein expression and/or treating a haploinsufficiency disorder Active AU2019350871B2 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862736847P 2018-09-26 2018-09-26
US62/736,847 2018-09-26
PCT/US2019/053268 WO2020069199A1 (en) 2018-09-26 2019-09-26 Methods and compositions for increasing protein expression and/or treating a haploinsufficiency disorder

Publications (2)

Publication Number Publication Date
AU2019350871A1 AU2019350871A1 (en) 2021-05-20
AU2019350871B2 true AU2019350871B2 (en) 2026-02-26

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AU2019350871A Active AU2019350871B2 (en) 2018-09-26 2019-09-26 Methods and compositions for increasing protein expression and/or treating a haploinsufficiency disorder

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US (2) US12281314B2 (enExample)
EP (1) EP3856905A4 (enExample)
JP (2) JP2022502044A (enExample)
KR (1) KR102814622B1 (enExample)
CN (1) CN113195719A (enExample)
AU (1) AU2019350871B2 (enExample)
BR (1) BR112021005788A2 (enExample)
CA (1) CA3114109A1 (enExample)
CL (1) CL2021000747A1 (enExample)
CO (1) CO2021005040A2 (enExample)
EA (1) EA202190736A1 (enExample)
IL (1) IL281848A (enExample)
MX (1) MX2021003567A (enExample)
WO (1) WO2020069199A1 (enExample)
ZA (1) ZA202102302B (enExample)

Families Citing this family (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP7712270B2 (ja) 2019-11-01 2025-07-23 テバード バイオサイエンシズ インコーポレイテッド 未成熟終止コドン媒介障害を処置するための方法および組成物
CA3160097A1 (en) * 2019-11-04 2021-05-14 Flagship Pioneering, Inc. Trem compositions for con-rare codons and related uses
US20230203510A1 (en) * 2020-05-29 2023-06-29 Flagship Pioneering Innovations Vi, Llc Trem compositions and methods relating thereto
EP4158032A2 (en) * 2020-05-29 2023-04-05 Flagship Pioneering Innovations VI, LLC Trem compositions and methods relating thereto
EP4334450A4 (en) * 2021-05-05 2025-06-18 Tevard Biosciences, Inc. Methods and compositions for treating a premature termination codon-mediated disorder
CA3249261A1 (en) 2022-04-18 2023-10-26 Vertex Pharmaceuticals Incorporated COMPOSITIONS AND PROCESSES TO IMPROVE ADENE-ASSOCIATED VIRUS (AAV) THERAPY AND REDUCE AAV TROPISM TO THE LIVER
CN117257958B (zh) * 2023-11-21 2024-02-09 四川大学华西医院 Trps1抑制剂的新用途及用于治疗和/或预防雄激素性秃发的药物
WO2025176166A1 (en) * 2024-02-21 2025-08-28 Zhuhai Codone Biotechnology Co., Ltd. Engineered trna expression cassette
WO2026001270A1 (en) * 2024-06-24 2026-01-02 Zhuhai Codone Biotechnology Co., Ltd. Engineered trna molecules and methods

Citations (1)

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WO2017201091A1 (en) * 2016-05-16 2017-11-23 The Board Of Regents Of The University Of Texas System COMPOSITIONS FOR THE DELIVERY OF tRNA AS NANOPARTICLES AND METHODS OF USE THEREWITH

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EP1114149A1 (en) 1998-09-17 2001-07-11 SmithKline Beecham Corporation Rnase p polypeptides
US20040142325A1 (en) 2001-09-14 2004-07-22 Liat Mintz Methods and systems for annotating biomolecular sequences
JP4406731B2 (ja) * 2005-03-31 2010-02-03 国立大学法人 岡山大学 部位特異的アミノ酸導入法のための新規な直交化ｔＲＮＡ
WO2008127900A1 (en) * 2007-04-13 2008-10-23 The Salk Institute For Biological Studies Methods of genetically encoding unnatural amino acids in eukaryotic cells using orthogonal trna/synthetase pairs
US20120283116A1 (en) * 2009-09-11 2012-11-08 Leppert Mark F Mutant Sodium Channel Nav1.7 and Methods Related Thereto
US9676810B2 (en) * 2010-07-08 2017-06-13 The Brigham And Women's Hospital, Inc. Neuroprotective molecules and methods of treating neurological disorders and inducing stress granules
US20130129668A1 (en) * 2011-09-01 2013-05-23 The Regents Of The University Of California Diagnosis and treatment of arthritis using epigenetics
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Also Published As

Publication number Publication date
US20220073933A1 (en) 2022-03-10
KR20210091699A (ko) 2021-07-22
JP2022502044A (ja) 2022-01-11
ZA202102302B (en) 2022-04-28
KR102814622B1 (ko) 2025-05-29
IL281848A (en) 2021-05-31
AU2019350871A1 (en) 2021-05-20
EP3856905A4 (en) 2023-06-21
CO2021005040A2 (es) 2021-09-20
CA3114109A1 (en) 2020-04-02
BR112021005788A2 (pt) 2021-10-26
JP2025010148A (ja) 2025-01-20
US12281314B2 (en) 2025-04-22
CN113195719A (zh) 2021-07-30
WO2020069199A1 (en) 2020-04-02
EA202190736A1 (ru) 2021-09-16
US20260009041A1 (en) 2026-01-08
EP3856905A1 (en) 2021-08-04
CL2021000747A1 (es) 2021-10-22
MX2021003567A (es) 2021-08-24

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