JP2023535576A - ｅＥＦ１Ａ２の遺伝子治療ベクターおよびその使用 - Google Patents

ｅＥＦ１Ａ２の遺伝子治療ベクターおよびその使用 Download PDF

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JP2023535576A
JP2023535576A JP2023504517A JP2023504517A JP2023535576A JP 2023535576 A JP2023535576 A JP 2023535576A JP 2023504517 A JP2023504517 A JP 2023504517A JP 2023504517 A JP2023504517 A JP 2023504517A JP 2023535576 A JP2023535576 A JP 2023535576A
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promoter
eef1a2
polynucleotide sequence
seq
raav virion
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JP2023504517A
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Japanese (ja)
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JPWO2022018171A5 (enExample
Inventor
サイモン ニコラス ワディントン
ラジヴィンダー カルダ
クリストファー ディーン ハルツォク
ジョアン エング
チェスター サクラメント
ステファニー ショルジ
デイビッド リックス
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UCL Business Ltd
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UCL Business Ltd
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Publication of JPWO2022018171A5 publication Critical patent/JPWO2022018171A5/ja
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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
    • C12N15/79—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
    • 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
    • A61K48/0008—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 'non-active' part of the composition delivered, e.g. wherein such 'non-active' part is not delivered simultaneously with the 'active' part of the composition
    • A61K48/0025—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 'non-active' part of the composition delivered, e.g. wherein such 'non-active' part is not delivered simultaneously with the 'active' part of the composition wherein the non-active part clearly interacts with the delivered nucleic acid
    • A61K48/0041—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 'non-active' part of the composition delivered, e.g. wherein such 'non-active' part is not delivered simultaneously with the 'active' part of the composition wherein the non-active part clearly interacts with the delivered nucleic acid the non-active part being polymeric
    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
    • 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
    • C07K14/575—Hormones
    • C07K14/61—Growth hormone [GH], i.e. somatotropin
    • 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
    • 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
    • C12N2750/14171—Demonstrated in vivo effect
    • 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
    • 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
    • C12N2830/48—Vector systems having a special element relevant for transcription regulating transport or export of RNA, e.g. RRE, PRE, WPRE, CTE
    • 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
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Biomedical Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Medicinal Chemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Biophysics (AREA)
  • Epidemiology (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Endocrinology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Psychiatry (AREA)
  • Hospice & Palliative Care (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
JP2023504517A 2020-07-23 2021-07-21 ｅＥＦ１Ａ２の遺伝子治療ベクターおよびその使用 Pending JP2023535576A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063055775P 2020-07-23 2020-07-23
US63/055,775 2020-07-23
PCT/EP2021/070455 WO2022018171A1 (en) 2020-07-23 2021-07-21 GENE THERAPY VECTOR FOR eEF1A2 AND USES THEREOF

Publications (2)

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JP2023535576A true JP2023535576A (ja) 2023-08-18
JPWO2022018171A5 JPWO2022018171A5 (enExample) 2024-07-30

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Country Link
US (1) US20230330265A1 (enExample)
EP (1) EP4185332A1 (enExample)
JP (1) JP2023535576A (enExample)
KR (1) KR20230039669A (enExample)
CN (1) CN116171325A (enExample)
AU (1) AU2021312320A1 (enExample)
CA (1) CA3186700A1 (enExample)
IL (1) IL299955A (enExample)
MX (1) MX2023000995A (enExample)
WO (2) WO2022017630A1 (enExample)

Families Citing this family (4)

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Publication number Priority date Publication date Assignee Title
PL3445406T3 (pl) 2016-04-20 2022-02-07 Centro De Investigaciones Energéticas, Medioambientales Y Tecnológicas, O.A., M.P. Kompozycje i sposoby zwiększonej ekspresji genów PKLR
AU2018352583B2 (en) 2017-10-16 2025-04-17 Centro de Investigaciones Energeticas, Medioambientales Y Tecnologicas, O.A., M.P. Lentiviral vectors for delivery of PKLR to treat Pyruvate Kinase Deficiency
RU2020134965A (ru) 2018-04-27 2022-04-27 Спейскрафт Севен, Ллк Генная терапия при дегенерации цнс
IL300263A (en) 2020-08-07 2023-03-01 Spacecraft Seven Llc Plakophilin-2 (PKP2) gene therapy using an AAV vector

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20050164349A1 (en) * 2003-12-12 2005-07-28 Chung Chan Methods for enhancing expression of recombinant proteins
WO2020014523A1 (en) * 2018-07-12 2020-01-16 Rocket Pharmaceuticals, Ltd. Gene therapy vectors for treatment of danon disease

Family Cites Families (10)

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Publication number Priority date Publication date Assignee Title
ATE386131T1 (de) 1994-04-13 2008-03-15 Univ Rockefeller Aav-vermittelte überbringung von dna in zellen des nervensystems
JP2004514407A (ja) 2000-04-28 2004-05-20 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 異種キャプシド中にシュードタイピングされたａａｖ５キャプシドおよびａａｖ５ベクターを含む組換えａａｖベクター
ATE317916T1 (de) 2001-11-13 2006-03-15 Univ Pennsylvania Verfahren zur identifizierung von adeno- assoziiertem virus (aav) sequenzen sowie kit zur ausführung der methode
US8299215B2 (en) 2007-07-14 2012-10-30 University Of Iowa Research Foundation Methods and compositions for treating brain diseases
WO2011123842A2 (en) 2010-04-02 2011-10-06 Ceregene, Inc. Methods for treating parkinson's disease and other disorders of dopaminergic neurons of the brain
WO2013078316A1 (en) 2011-11-23 2013-05-30 Nationwide Children's Hospital, Inc. Recombinant adeno-associated virus delivery of alpha-sarcoglycan polynucleotides
EP3561062A1 (en) 2013-09-13 2019-10-30 California Institute of Technology Selective recovery
AU2015252797C1 (en) 2014-05-02 2021-04-22 Genzyme Corporation AAV vectors for retinal and CNS gene therapy
JP2018531926A (ja) * 2015-09-17 2018-11-01 コーダ バイオセラピューティクス， インコーポレイテッド 神経学的障害を処置するための組成物および方法
ES2869284T3 (es) 2015-12-11 2021-10-25 California Inst Of Techn Péptidos de diana para dirigir virus adenoasociados (AAV)

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20050164349A1 (en) * 2003-12-12 2005-07-28 Chung Chan Methods for enhancing expression of recombinant proteins
WO2020014523A1 (en) * 2018-07-12 2020-01-16 Rocket Pharmaceuticals, Ltd. Gene therapy vectors for treatment of danon disease

Non-Patent Citations (1)

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Title
NG, J. ET AL: "OR02: AAV9 gene therapy rescue of an eEF1A2 knockout mouse model.", HUMAN GENE THERAPY, JPN6025025471, 2019, pages 10, ISSN: 0005625673 *

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Publication number Publication date
MX2023000995A (es) 2023-06-16
CA3186700A1 (en) 2022-01-27
WO2022017630A1 (en) 2022-01-27
WO2022018171A1 (en) 2022-01-27
EP4185332A1 (en) 2023-05-31
KR20230039669A (ko) 2023-03-21
IL299955A (en) 2023-03-01
CN116171325A (zh) 2023-05-26
US20230330265A1 (en) 2023-10-19
AU2021312320A1 (en) 2023-03-16

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