JP7847778B2 - ピルビン酸キナーゼ欠乏症（ｐｋｄ）遺伝子編集治療法 - Google Patents

ピルビン酸キナーゼ欠乏症（ｐｋｄ）遺伝子編集治療法

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JP7847778B2
JP7847778B2 JP2022579942A JP2022579942A JP7847778B2 JP 7847778 B2 JP7847778 B2 JP 7847778B2 JP 2022579942 A JP2022579942 A JP 2022579942A JP 2022579942 A JP2022579942 A JP 2022579942A JP 7847778 B2 JP7847778 B2 JP 7847778B2
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JP2023531718A (ja
JP2023531718A5 (https=
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サンス ホセ カルロス セゴヴィア
ブスタマンテ オスカル キンタナ
ヴァケーロ サラ ファニャーナス
Original Assignee
セントロ デ インベスティガシオネス エネルゲティカス メディオ アムビエンタレス イ テクノロジカス オー．エー．，エム．ピー．
コンソルシオ セントロ デ インベスティガシオン ビオメディカ エン レッド （セイベエエレ）
フンダシオン インスティチュート デ インベスティガシオン サニタリア フンダシオン ヒメネス ディアス
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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
    • C12N15/11—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
    • C12N15/1137—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 against enzymes
    • 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
    • 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
    • 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
    • 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
    • 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
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    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y207/00—Transferases transferring phosphorus-containing groups (2.7)
    • C12Y207/01—Phosphotransferases with an alcohol group as acceptor (2.7.1)
    • C12Y207/0104—Pyruvate kinase (2.7.1.40)

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Medicinal Chemistry (AREA)
  • Biophysics (AREA)
  • Animal Behavior & Ethology (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • Public Health (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
JP2022579942A 2020-06-26 2021-06-28 ピルビン酸キナーゼ欠乏症（ｐｋｄ）遺伝子編集治療法 Active JP7847778B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP20382568.2 2020-06-26
EP20382568.2A EP3929294A1 (en) 2020-06-26 2020-06-26 Pyruvate kinase deficiency (pkd) gene editing treatment method
PCT/EP2021/067719 WO2021260227A1 (en) 2020-06-26 2021-06-28 Pyruvate kinase deficiency (pkd) gene editing treatment method

Publications (3)

Publication Number Publication Date
JP2023531718A JP2023531718A (ja) 2023-07-25
JP2023531718A5 JP2023531718A5 (https=) 2024-07-09
JP7847778B2 true JP7847778B2 (ja) 2026-04-20

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ID=71607853

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JP2022579942A Active JP7847778B2 (ja) 2020-06-26 2021-06-28 ピルビン酸キナーゼ欠乏症（ｐｋｄ）遺伝子編集治療法

Country Status (9)

Country Link
US (1) US20230303990A1 (https=)
EP (2) EP3929294A1 (https=)
JP (1) JP7847778B2 (https=)
KR (1) KR20230029922A (https=)
CN (1) CN116648511A (https=)
AU (1) AU2021298186A1 (https=)
CA (1) CA3188164A1 (https=)
MX (1) MX2023000035A (https=)
WO (1) WO2021260227A1 (https=)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP4534654A1 (en) * 2023-10-02 2025-04-09 Consorcio Centro de Investigación Biomédica en Red Pre-stimulation method of cd34+ cells to achieve clinically relevant gene editing frequencies

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
Efficient CRISPR/Cas9-Mediated Gene Editing of Pklr in HumanHematopoietic Progenitors and Stem Cells for the Gene Therapyof Pyruvate Kinase Deficiency，Blood，2018年，Vol.132, Supplement 1，5792 (pp.1-2)，https://doi.org/10.1182/blood-2018-99-111772
PLoS ONE，2019年，Vol.14, No.10，e0223775，https://doi.org/10.1371/journal. pone.0223775

Also Published As

Publication number Publication date
MX2023000035A (es) 2023-04-10
WO2021260227A1 (en) 2021-12-30
EP4172332A1 (en) 2023-05-03
KR20230029922A (ko) 2023-03-03
JP2023531718A (ja) 2023-07-25
CA3188164A1 (en) 2021-12-30
US20230303990A1 (en) 2023-09-28
AU2021298186A1 (en) 2023-02-09
CN116648511A (zh) 2023-08-25
EP3929294A1 (en) 2021-12-29

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