CN116648511A - 丙酮酸激酶缺乏症(pkd)基因编辑治疗方法 - Google Patents

丙酮酸激酶缺乏症(pkd)基因编辑治疗方法 Download PDF

Info

Publication number
CN116648511A
CN116648511A CN202180053301.9A CN202180053301A CN116648511A CN 116648511 A CN116648511 A CN 116648511A CN 202180053301 A CN202180053301 A CN 202180053301A CN 116648511 A CN116648511 A CN 116648511A
Authority
CN
China
Prior art keywords
seq
sequence
corpk
crispr
aav
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
CN202180053301.9A
Other languages
English (en)
Chinese (zh)
Inventor
J·C·塞戈比亚·桑斯
O·昆塔纳·布斯塔曼特
S·范安娜·巴克罗
M·波特斯
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Biomedical Network Research Consortium Center
Energy Environment And Technology Research Center Oamp
Himenez Diaz Health Research Foundation Institute
Original Assignee
Biomedical Network Research Consortium Center
Himenez Diaz Health Research Foundation Institute
Energy Environment And Technology Research Center Oamp
Leland Stanford Junior University
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Biomedical Network Research Consortium Center, Himenez Diaz Health Research Foundation Institute, Energy Environment And Technology Research Center Oamp, Leland Stanford Junior University filed Critical Biomedical Network Research Consortium Center
Publication of CN116648511A publication Critical patent/CN116648511A/zh
Pending legal-status Critical Current

Links

Classifications

    • 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
    • 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]
    • 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]
    • C12N9/222—Clustered regularly interspaced short palindromic repeats [CRISPR]-associated [CAS] enzymes
    • C12N9/226—Class 2 CAS enzyme complex, e.g. single CAS protein
    • 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)
    • 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
    • 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

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Virology (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Epidemiology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (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)
CN202180053301.9A 2020-06-26 2021-06-28 丙酮酸激酶缺乏症(pkd)基因编辑治疗方法 Pending CN116648511A (zh)

Applications Claiming Priority (3)

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

Publications (1)

Publication Number Publication Date
CN116648511A true CN116648511A (zh) 2023-08-25

Family

ID=71607853

Family Applications (1)

Application Number Title Priority Date Filing Date
CN202180053301.9A Pending CN116648511A (zh) 2020-06-26 2021-06-28 丙酮酸激酶缺乏症(pkd)基因编辑治疗方法

Country Status (9)

Country Link
US (1) US12655406B2 (enExample)
EP (2) EP3929294A1 (enExample)
JP (1) JP7847778B2 (enExample)
KR (1) KR20230029922A (enExample)
CN (1) CN116648511A (enExample)
AU (1) AU2021298186A1 (enExample)
CA (1) CA3188164A1 (enExample)
MX (1) MX2023000035A (enExample)
WO (1) WO2021260227A1 (enExample)

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

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20180320138A1 (en) * 2015-11-05 2018-11-08 Centro De Investigación Biomédica En Red (Ciber) Process of gene-editing of cells isolated from a subject suffering from a metabolic disease affecting the erythroid lineage, cells obtained by said process and uses thereof
CN111163810A (zh) * 2017-10-16 2020-05-15 能源环境和技术研究中心O.A., M.P. 用于递送pklr以治疗丙酮酸激酶缺乏症的慢病毒载体

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3169776B1 (en) * 2014-07-14 2025-09-03 The Regents of The University of California Crispr/cas transcriptional modulation

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20180320138A1 (en) * 2015-11-05 2018-11-08 Centro De Investigación Biomédica En Red (Ciber) Process of gene-editing of cells isolated from a subject suffering from a metabolic disease affecting the erythroid lineage, cells obtained by said process and uses thereof
CN111163810A (zh) * 2017-10-16 2020-05-15 能源环境和技术研究中心O.A., M.P. 用于递送pklr以治疗丙酮酸激酶缺乏症的慢病毒载体

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
OSCAR QUINTANA BUSTAMANTE等: "Efficient CRISPR/Cas9-mediated gene editing of pklr in human hematopoietic progenitors and stem cells for the gene therapy of pyruvate kinase deficiency", BLOOD, vol. 132, 29 November 2018 (2018-11-29), pages 5792 *
OSCAR QUINTANA-BUSTAMANTE等: "Gene editing of PKLR gene in human hematopoietic progenitors through 5\' and 3\' UTR modified TALEN mRNA", PLOS ONE, vol. 14, no. 10, 1 January 2019 (2019-01-01), pages 0223775 *

Also Published As

Publication number Publication date
AU2021298186A1 (en) 2023-02-09
WO2021260227A1 (en) 2021-12-30
US12655406B2 (en) 2026-06-16
JP7847778B2 (ja) 2026-04-20
EP3929294A1 (en) 2021-12-29
EP4172332A1 (en) 2023-05-03
KR20230029922A (ko) 2023-03-03
CA3188164A1 (en) 2021-12-30
MX2023000035A (es) 2023-04-10
US20230303990A1 (en) 2023-09-28
JP2023531718A (ja) 2023-07-25

Similar Documents

Publication Publication Date Title
CN107250363B (zh) 在大肠杆菌中进行有效基因编辑的组合物和方法
KR102622910B1 (ko) Pd-1 호밍 엔도뉴클레아제 변이체, 조성물 및 사용 방법
AU2019204429B2 (en) Modified hematopoietic stem/progenitor and non-T effector cells, and uses thereof
AU2024266825A1 (en) Expression of human FOXP3 in gene edited T cells
US20030159160A1 (en) Method for the stable inversion of DNA sequence by site-specific recombination and DNA vectors and transgenic cells thereof
KR102628872B1 (ko) 세포의 증식을 제어하기 위해 세포 분열 좌위를 사용하기 위한 도구 및 방법
KR102705104B1 (ko) Cas9 변이체 및 사용 방법
KR20240001708A (ko) 유전적 장애의 치료를 위해 생체내 뉴클레아제-매개의 유전자 표적화를 위한 조성물 및 방법
CN114990157B (zh) 用于构建lmna基因突变的扩张型心肌病模型猪核移植供体细胞的基因编辑系统及其应用
KR20200089289A (ko) 비골수제거 골수 재건을 위한 방법 및 조성물
US20200017917A1 (en) Mapping a Functional Cancer Genome Atlas of Tumor Suppressors Using AAV-CRISPR Mediated Direct In Vivo Screening
KR20230029922A (ko) 피루베이트 키나아제 결핍증(pkd) 유전자 편집 치료 방법
HK40099652A (en) Pyruvate kinase deficiency (pkd) gene editing treatment method
KR20220116512A (ko) 박테로이데스의 게놈편집
CN117693592A (zh) 用于治疗遗传性疾患的体内核酸酶介导的基因靶向的组合物和方法
KR20230150998A (ko) Cas3 단백질을 제조하는 방법
CN114292800B (zh) 用于igf-1基因重组表达的重组细胞和重组表达方法
CN110241099A (zh) 酿脓链球菌的CRISPR核酸酶SpCas9 的截短变异体及其应用
RU2781083C2 (ru) Варианты, композиции и методы применения хоминг-эндонуклеазы pd-1
HK40082332A (zh) 使用细胞分裂基因座控制细胞增殖的工具和方法
US20220226357A1 (en) Methods for treating neurodegenerative disorders
HK40109263A (en) Compositions and methods for in vivo nuclease-mediated gene targeting for the treatment of genetic disorders
HK40041692A (en) Expression of human foxp3 in gene edited t cells

Legal Events

Date Code Title Description
PB01 Publication
PB01 Publication
SE01 Entry into force of request for substantive examination
SE01 Entry into force of request for substantive examination
CB03 Change of inventor or designer information
CB03 Change of inventor or designer information

Inventor after: J. C. Segubia Sans

Inventor after: O. Quintana Bustamante

Inventor after: S. Fanna Barcro

Inventor before: J. C. Segubia Sans

Inventor before: O. Quintana Bustamante

Inventor before: S. Fanna Barcro

Inventor before: M. Potts

TA01 Transfer of patent application right
TA01 Transfer of patent application right

Effective date of registration: 20231023

Address after: Madrid

Applicant after: Energy Environment and Technology Research Center OAMP

Applicant after: Biomedical network research consortium Center

Applicant after: Himenez Diaz Health Research Foundation Institute

Address before: Madrid

Applicant before: Energy Environment and Technology Research Center OAMP

Applicant before: Biomedical network research consortium Center

Applicant before: Himenez Diaz Health Research Foundation Institute

Applicant before: THE BOARD OF TRUSTEES OF THE LELAND STANFORD JUNIOR University

REG Reference to a national code

Ref country code: HK

Ref legal event code: DE

Ref document number: 40099652

Country of ref document: HK

REG Reference to a national code

Ref country code: HK

Ref legal event code: CORR

Ref document number: 40099652

Country of ref document: HK

Free format text: HONG KONG INTELLECTUAL PROPERTY JOURNAL, CORRECTED DATA OF SECTION 20 19.04.2024: (72) SEGOVIA SANZ, JOS