JP2023522020A - 顔面肩甲上腕型筋ジストロフィーのためのｃｒｉｓｐｒ阻害 - Google Patents

顔面肩甲上腕型筋ジストロフィーのためのｃｒｉｓｐｒ阻害 Download PDF

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JP2023522020A
JP2023522020A JP2022562629A JP2022562629A JP2023522020A JP 2023522020 A JP2023522020 A JP 2023522020A JP 2022562629 A JP2022562629 A JP 2022562629A JP 2022562629 A JP2022562629 A JP 2022562629A JP 2023522020 A JP2023522020 A JP 2023522020A
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dux4
sgrna
vector
polynucleotide
dsacas9
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JP2023522020A5 (https=
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ピーター エル． ジョーンズ
チャリス エル． ヒメダ
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ネバダ リサーチ アンド イノベイション コーポレイション
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    • 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
    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00—Drugs for disorders of the muscular or neuromuscular system
    • 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
    • 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
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/80—Fusion polypeptide containing a DNA binding domain, e.g. Lacl or Tet-repressor
    • 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
    • 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)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Virology (AREA)
  • Epidemiology (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Neurology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Acyclic And Carbocyclic Compounds In Medicinal Compositions (AREA)
  • Bakery Products And Manufacturing Methods Therefor (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
JP2022562629A 2020-04-17 2021-04-06 顔面肩甲上腕型筋ジストロフィーのためのｃｒｉｓｐｒ阻害 Pending JP2023522020A (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063011476P 2020-04-17 2020-04-17
US63/011,476 2020-04-17
PCT/US2021/025940 WO2021211325A1 (en) 2020-04-17 2021-04-06 Crispr-inhibition for facioscapulohumeral muscular dystrophy

Publications (2)

Publication Number Publication Date
JP2023522020A true JP2023522020A (ja) 2023-05-26
JP2023522020A5 JP2023522020A5 (https=) 2024-04-19

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JP2022562629A Pending JP2023522020A (ja) 2020-04-17 2021-04-06 顔面肩甲上腕型筋ジストロフィーのためのｃｒｉｓｐｒ阻害

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Country Link
US (1) US20230174958A1 (https=)
EP (1) EP4135778A4 (https=)
JP (1) JP2023522020A (https=)
KR (1) KR20230003511A (https=)
CN (1) CN115768487A (https=)
AU (1) AU2021257213A1 (https=)
BR (1) BR112022020945A2 (https=)
CA (1) CA3175625A1 (https=)
IL (1) IL297113A (https=)
MX (1) MX2022012965A (https=)
WO (1) WO2021211325A1 (https=)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20230023612A (ko) 2020-04-02 2023-02-17 마이레큘, 인크. 조작된 올리고뉴클레오티드를 사용한 표적화된 억제
WO2022045366A1 (en) * 2020-08-31 2022-03-03 Modalis Therapeutics Corporation Method for treating facioscapulohumeral muscular dystrophy (fshd) by targeting dux4 gene
WO2024020444A2 (en) * 2022-07-20 2024-01-25 Nevada Research & Innovation Corporation Muscle-specific regulatory cassettes
WO2025019820A1 (en) * 2023-07-19 2025-01-23 Nevada Research & Innovation Corporation All in one vectors for the treatment of facioscapulohumeral muscular dystrophy
CN117448380A (zh) * 2023-12-22 2024-01-26 上海元戊医学技术有限公司 iPSC来源的COL10A1蛋白低表达MSC细胞株的构建方法及其应用
WO2026039783A1 (en) * 2024-08-16 2026-02-19 Sarepta Therapeutics, Inc. Deficient cas-transcriptional repressor fusions for regulation of gene expression

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2019534298A (ja) * 2016-11-07 2019-11-28 ユニバーシティ オブ マサチューセッツ 顔面肩甲上腕型筋ジストロフィーのための治療標的

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3192880B1 (en) * 2010-08-18 2019-10-09 Fred Hutchinson Cancer Research Center Nucleic acid agents for use in treating facioscapulohumeral dystrophy (fshd)
JP7103750B2 (ja) * 2013-12-12 2022-07-20 ザ・ブロード・インスティテュート・インコーポレイテッド ゲノム編集のためのＣＲＩＳＰＲ－Ｃａｓ系及び組成物の送達、使用及び治療適用
PL3097197T3 (pl) * 2014-01-21 2021-06-28 Vrije Universiteit Brussel Mięśniowo-specyficzne elementy regulatorowe kwasów nukleinowych oraz sposoby i ich zastosowanie
EP3515506B1 (en) * 2016-09-23 2023-09-13 University of Massachusetts Silencing of dux4 by recombinant gene editing complexes
WO2019051290A1 (en) * 2017-09-07 2019-03-14 The Children's Medical Center Corporation COMPOSITIONS AND METHODS FOR THE TREATMENT OF FACIO-SCAPULO-HUMERAL DYSTROPHY
BR112020006677A2 (pt) * 2017-10-05 2020-10-06 Fulcrum Therapeutics, Inc. uso de inibidores p38 para reduzir a expressão de dux4

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2019534298A (ja) * 2016-11-07 2019-11-28 ユニバーシティ オブ マサチューセッツ 顔面肩甲上腕型筋ジストロフィーのための治療標的

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Publication number Publication date
EP4135778A4 (en) 2024-05-29
IL297113A (en) 2022-12-01
US20230174958A1 (en) 2023-06-08
CN115768487A (zh) 2023-03-07
AU2021257213A1 (en) 2022-11-03
MX2022012965A (es) 2023-01-18
CA3175625A1 (en) 2021-10-21
EP4135778A1 (en) 2023-02-22
BR112022020945A2 (pt) 2022-12-27
KR20230003511A (ko) 2023-01-06
WO2021211325A1 (en) 2021-10-21

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