AU2018238422B2 - Gene therapy for the treatment of CNGB1-linked retinitis pigmentosa - Google Patents

Gene therapy for the treatment of CNGB1-linked retinitis pigmentosa Download PDF

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AU2018238422B2
AU2018238422B2 AU2018238422A AU2018238422A AU2018238422B2 AU 2018238422 B2 AU2018238422 B2 AU 2018238422B2 AU 2018238422 A AU2018238422 A AU 2018238422A AU 2018238422 A AU2018238422 A AU 2018238422A AU 2018238422 B2 AU2018238422 B2 AU 2018238422B2
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AU2018238422A1 (en
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Martin Biel
Stylianos MICHALAKIS
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    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • 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
    • 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
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/0306—Animal model for genetic diseases
    • 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
    • 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)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Medicinal Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Biophysics (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Cell Biology (AREA)
  • Physics & Mathematics (AREA)
  • Ophthalmology & Optometry (AREA)
  • Immunology (AREA)
  • Virology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
AU2018238422A 2017-03-21 2018-03-21 Gene therapy for the treatment of CNGB1-linked retinitis pigmentosa Active AU2018238422B2 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201762474409P 2017-03-21 2017-03-21
US62/474,409 2017-03-21
PCT/IB2018/051905 WO2018172961A1 (en) 2017-03-21 2018-03-21 Gene therapy for the treatment of cngb1-linked retinitis pigmentosa

Publications (2)

Publication Number Publication Date
AU2018238422A1 AU2018238422A1 (en) 2019-10-03
AU2018238422B2 true AU2018238422B2 (en) 2025-04-03

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AU2018238422A Active AU2018238422B2 (en) 2017-03-21 2018-03-21 Gene therapy for the treatment of CNGB1-linked retinitis pigmentosa

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US (2) US12246072B2 (enExample)
EP (1) EP3600446A1 (enExample)
JP (1) JP7257377B2 (enExample)
CN (1) CN111050805B (enExample)
AR (1) AR111188A1 (enExample)
AU (1) AU2018238422B2 (enExample)
CA (1) CA3056211A1 (enExample)
TW (1) TW201902911A (enExample)
UY (1) UY37636A (enExample)
WO (1) WO2018172961A1 (enExample)

Families Citing this family (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3116606A1 (en) * 2018-10-15 2020-04-23 Fondazione Telethon Intein proteins and uses thereof
US12605466B2 (en) * 2019-03-04 2026-04-21 University Of Florida Research Foundation, Incorporated Enhanced human opsin promoter for rod specific expression
WO2020182722A1 (en) * 2019-03-08 2020-09-17 Universite Paris-Saclay Improved therapeutic method for rare ocular diseases by gene replacement
CN110241202A (zh) * 2019-06-25 2019-09-17 复旦大学附属眼耳鼻喉科医院 视网膜色素变性突变位点及其应用
WO2021055760A1 (en) 2019-09-18 2021-03-25 Intergalactic Therapeutics, Inc. Synthetic dna vectors and methods of use
WO2021146625A1 (en) * 2020-01-17 2021-07-22 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Gene therapy for treatment of crx-autosomal dominant retinopathies
WO2021188761A1 (en) * 2020-03-18 2021-09-23 University Of Florida Research Foundation, Incorporated Modified arrestin-1 to enhance photoreceptor survival in retinal disease
CN111849998A (zh) * 2020-07-29 2020-10-30 武汉纽福斯生物科技有限公司 编码人卵黄状黄斑病蛋白1的核酸分子及其应用
JP2023548746A (ja) * 2020-10-13 2023-11-21 クリヤ セラピューティクス インコーポレイテッド サイトカインをコードする核酸を送達するためのウイルスベクターコンストラクトおよびがんを処置するためのその使用
CN117480256A (zh) * 2021-03-19 2024-01-30 星际治疗有限公司 治疗剂的眼递送
CN113201556B (zh) * 2021-05-14 2022-11-22 浙江大学 pSOY19-ZM2载体、其制备方法及应用
WO2023280388A1 (en) * 2021-07-06 2023-01-12 Institute Of Molecular And Clinical Ophthalmology Basel Promoter for specific expression of genes in rod photoreceptors
CN115820653A (zh) * 2021-09-17 2023-03-21 深圳华大生命科学研究院 基因突变体及其应用
WO2026087373A1 (en) * 2024-10-21 2026-04-30 MeiraGTx Ocular UK Limited Promoters for driving gene expression in rod photoreceptors and uses thereof
CN119432856B (zh) * 2024-12-30 2025-08-12 云舟生物科技(广州)股份有限公司 核酸分子、病毒颗粒及其制备方法和应用
CN122303228A (zh) * 2024-12-30 2026-06-30 广州市未来基因递送研究院 启动子及其应用

Citations (2)

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US20100190841A1 (en) * 2007-04-12 2010-07-29 The Provost, Fellows And Scholars Of The College Of The Holy And Undivided Trinity Of Queen Elizabe Genetic suppression and replacement
WO2015020522A1 (en) * 2013-08-05 2015-02-12 Koninklijke Nederlandse Akademie Van Wetenschappen Recombinant aav-crumbs homologue composition and methods for treating lca-8 and progressive rp

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PT3628334T (pt) * 2014-03-21 2023-09-26 Genzyme Corp Terapia genética para retinopatia pigmentar
EP3210632B1 (en) * 2016-02-23 2022-09-28 EyeServ GmbH Gene therapy for the treatment of a retinal degeneration disease

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100190841A1 (en) * 2007-04-12 2010-07-29 The Provost, Fellows And Scholars Of The College Of The Holy And Undivided Trinity Of Queen Elizabe Genetic suppression and replacement
WO2015020522A1 (en) * 2013-08-05 2015-02-12 Koninklijke Nederlandse Akademie Van Wetenschappen Recombinant aav-crumbs homologue composition and methods for treating lca-8 and progressive rp

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
Koch, S. et al., 'Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa', Human Molecular Genetics, (2012-10-15), vol. 21, no. 20, pages 4486 - 4496, doi: 10.1093/hmg/dds290. *
May, L. et al., 'In vitro comparison studies of truncated rhodopsin promoter fragments from various species in human cell lines', Clinical and Experimental Ophthalmology, (2003-10-01), vol. 31, no. 5, pages 445 - 450. *
Paul, D. et al., 'Construction of a recombinant adeno-associated virus (rAAV) vector expressing murine interleukin-12 (IL-12)', Cancer Gene Therapy, (2000-02-01), vol. 7, no. 2, pages 308 - 315, doi: 10.1038/sj.cgt.7700105. *
Rehemtulla, A. et al., 'The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression', PNAS, (1996), vol. 93, pages 191-195. *

Also Published As

Publication number Publication date
US20250262328A1 (en) 2025-08-21
WO2018172961A1 (en) 2018-09-27
CA3056211A1 (en) 2018-09-27
UY37636A (es) 2018-10-31
JP2020511167A (ja) 2020-04-16
US12246072B2 (en) 2025-03-11
EP3600446A1 (en) 2020-02-05
AU2018238422A1 (en) 2019-10-03
TW201902911A (zh) 2019-01-16
AR111188A1 (es) 2019-06-12
US20200030458A1 (en) 2020-01-30
JP7257377B2 (ja) 2023-04-13
CN111050805A (zh) 2020-04-21
CN111050805B (zh) 2026-04-14

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