CN112469421A - 减少剪接病和治疗rna显性疾病的组合物和方法 - Google Patents

减少剪接病和治疗rna显性疾病的组合物和方法 Download PDF

Info

Publication number
CN112469421A
CN112469421A CN201980047374.XA CN201980047374A CN112469421A CN 112469421 A CN112469421 A CN 112469421A CN 201980047374 A CN201980047374 A CN 201980047374A CN 112469421 A CN112469421 A CN 112469421A
Authority
CN
China
Prior art keywords
nucleic acid
rna
acid sequence
interfering rna
viral vector
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
CN201980047374.XA
Other languages
English (en)
Chinese (zh)
Inventor
J·张伯伦
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.)
University of Washington
Original Assignee
University of Washington
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 University of Washington filed Critical University of Washington
Publication of CN112469421A publication Critical patent/CN112469421A/zh
Pending legal-status Critical Current

Links

Images

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09Recombinant DNA-technology
    • C12N15/63Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86Viral vectors
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00Medicinal preparations containing organic active ingredients
    • A61K31/70Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088Compounds having three or more nucleosides or nucleotides
    • A61K31/7105Natural ribonucleic acids, i.e. containing only riboses attached to adenine, guanine, cytosine or uracil and having 3'-5' phosphodiester links
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00Drugs for disorders of the muscular or neuromuscular system
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09Recombinant DNA-technology
    • C12N15/11DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113Non-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
    • C12N15/1137Non-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
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/10Transferases (2.)
    • C12N9/12Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12YENZYMES
    • C12Y207/00Transferases transferring phosphorus-containing groups (2.7)
    • C12Y207/11Protein-serine/threonine kinases (2.7.11)
    • C12Y207/11001Non-specific serine/threonine protein kinase (2.7.11.1), i.e. casein kinase or checkpoint kinase
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/07Animals genetically altered by homologous recombination
    • A01K2217/072Animals genetically altered by homologous recombination maintaining or altering function, i.e. knock in
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00Animals characterised by species
    • A01K2227/10Mammal
    • A01K2227/105Murine
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00Animals characterised by purpose
    • A01K2267/03Animal model, e.g. for test or diseases
    • A01K2267/0306Animal model for genetic diseases
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00Structure or type of the nucleic acid
    • C12N2310/10Type of nucleic acid
    • C12N2310/12Type of nucleic acid catalytic nucleic acids, e.g. ribozymes
    • C12N2310/122Hairpin
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00Structure or type of the nucleic acid
    • C12N2310/10Type of nucleic acid
    • C12N2310/14Type of nucleic acid interfering nucleic acids [NA]
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00Structure or type of the nucleic acid
    • C12N2310/10Type of nucleic acid
    • C12N2310/14Type of nucleic acid interfering nucleic acids [NA]
    • C12N2310/141MicroRNAs, miRNAs
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2310/00Structure or type of the nucleic acid
    • C12N2310/50Physical structure
    • C12N2310/53Physical structure partially self-complementary or closed
    • C12N2310/531Stem-loop; Hairpin
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2320/00Applications; Uses
    • C12N2320/30Special therapeutic applications
    • C12N2320/32Special delivery means, e.g. tissue-specific
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2750/00MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011Details
    • C12N2750/14011Parvoviridae
    • C12N2750/14111Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141Use of virus, viral particle or viral elements as a vector
    • C12N2750/14143Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2750/00MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011Details
    • C12N2750/14011Parvoviridae
    • C12N2750/14111Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14171Demonstrated in vivo effect

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Plant Pathology (AREA)
  • Virology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Veterinary Medicine (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Neurology (AREA)
  • Epidemiology (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
CN201980047374.XA 2018-05-15 2019-05-15 减少剪接病和治疗rna显性疾病的组合物和方法 Pending CN112469421A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862671769P 2018-05-15 2018-05-15
US62/671,769 2018-05-15
PCT/US2019/032423 WO2019222354A1 (en) 2018-05-15 2019-05-15 Compositions and methods for reducing spliceopathy and treating rna dominance disorders

Publications (1)

Publication Number Publication Date
CN112469421A true CN112469421A (zh) 2021-03-09

Family

ID=68540673

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201980047374.XA Pending CN112469421A (zh) 2018-05-15 2019-05-15 减少剪接病和治疗rna显性疾病的组合物和方法

Country Status (15)

Country Link
US (1) US20210269825A1 (https=)
EP (1) EP3793566A4 (https=)
JP (1) JP2021522836A (https=)
KR (1) KR20210010549A (https=)
CN (1) CN112469421A (https=)
AU (1) AU2019268346A1 (https=)
BR (1) BR112020023298A2 (https=)
CA (1) CA3098249A1 (https=)
CL (1) CL2020002955A1 (https=)
CO (1) CO2020015239A2 (https=)
MA (1) MA51938B1 (https=)
MX (1) MX2020012269A (https=)
PH (1) PH12020551913A1 (https=)
SG (1) SG11202011151VA (https=)
WO (1) WO2019222354A1 (https=)

Families Citing this family (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113166208B (zh) 2018-10-02 2024-11-22 沃雅戈治疗公司 重新定向aav衣壳的嗜性
TWI900553B (zh) 2020-05-13 2025-10-11 美商航海家醫療公司 Aav蛋白殼之趨性重定向
WO2023034870A2 (en) 2021-09-01 2023-03-09 Ionis Pharmaceuticals, Inc. Compounds and methods for reducing dmpk expression
EP4426716A1 (en) 2021-11-02 2024-09-11 Voyager Therapeutics, Inc. Aav capsid variants and uses thereof
WO2023196862A1 (en) * 2022-04-06 2023-10-12 Genzyme Corporation Targeted gene therapy for dm-1 myotonic dystrophy
US20250352672A1 (en) * 2022-05-13 2025-11-20 University Of Washington Method for treatment of myotonic dystrophy combining protein expression and rna interference vector delivery with tissue detargeting
TW202409289A (zh) * 2022-06-27 2024-03-01 美商安斯泰來基因治療股份有限公司 用於治療肌強直性營養不良之組合物及方法
US20240384271A1 (en) * 2023-04-05 2024-11-21 Genzyme Corporation Targeted gene therapy for dm-1 myotonic dystrophy
WO2024229164A2 (en) * 2023-05-03 2024-11-07 Voyager Therapeutics, Inc. Compositions and methods for the treatment of disorders related to dystrophia myotonica protein kinase
WO2025038795A1 (en) * 2023-08-16 2025-02-20 Voyager Therapeutics, Inc. Compositions and methods for the treatment of disorders related to dystrophia myotonica protein kinase
WO2025122536A1 (en) * 2023-12-05 2025-06-12 Voyager Therapeutics, Inc. Compositions and methods for the treatment of disorders related to dystrophia myotonica protein kinase
WO2025259747A2 (en) * 2024-06-12 2025-12-18 Alnylam Pharmaceuticals, Inc. Dystrophy myotonic protein kinase (dmpk) irna compositions and methods of use thereof

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20110111491A1 (en) * 2002-08-05 2011-05-12 University Of Iowa Research Foundation Rna interference suppresion of neurodegenerative diseases and methods of use thereof
CN108064292A (zh) * 2014-12-24 2018-05-22 尤尼克尔生物制药股份有限公司 RNAi诱导的亨廷顿蛋白基因抑制

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5977333A (en) * 1992-02-06 1999-11-02 Massachusetts Institute Of Technology DNA sequence encoding the myotonic dystrophy gene and uses thereof
US20120322861A1 (en) * 2007-02-23 2012-12-20 Barry John Byrne Compositions and Methods for Treating Diseases
EP2595663A4 (en) * 2010-07-19 2014-03-05 Isis Pharmaceuticals Inc MODULATION OF DYSTROPHIA MYOTONICA PROTEIN KINASE (DMPK) EXPRESSION
WO2017079291A1 (en) * 2015-11-02 2017-05-11 Ionis Pharmaceuticals, Inc. Compounds and methods for modulating c90rf72
CN115896106A (zh) * 2016-03-01 2023-04-04 佛罗里达大学研究基金会有限公司 用于治疗显性视网膜色素变性的aav载体
CN109862785B (zh) * 2016-09-30 2022-09-06 瑞泽恩制药公司 C9orf72基因座中具有六核苷酸重复扩增的非人类动物
CN112292895B (zh) * 2018-08-10 2024-06-14 富士通株式会社 一种通信方法、装置和通信系统

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20110111491A1 (en) * 2002-08-05 2011-05-12 University Of Iowa Research Foundation Rna interference suppresion of neurodegenerative diseases and methods of use thereof
CN108064292A (zh) * 2014-12-24 2018-05-22 尤尼克尔生物制药股份有限公司 RNAi诱导的亨廷顿蛋白基因抑制

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
DARRENR.BISSET等: "Therapeutic impact of systemic AAV-mediated RNA interference in a mouse model of myotonic dystrophy", 《HUMAN MOLECULAR GENETICS》, vol. 24, no. 17, pages 4971 - 4983, XP055656933, DOI: 10.1093/hmg/ddv219 *
JIAXIN HU等: "Engineering Duplex RNAs for Challenging Targets: Recognition of GGGGCC/CCCCGG repeats at the ALS/FTD C9orf72 locus", 《CHEM BIOL. 》, vol. 22, no. 11, pages 1505 - 1511 *
MARC-ANDRE LANGLOIS等: "Cytoplasmic and Nuclear Retained DMPK mRNAs Are Targets for RNA Interference in Myotonic Dystrophy Cells", 《THE JOURNAL OF BIOLOGICAL CHEMISTRY》, vol. 280, no. 17, pages 16949 - 16954, XP055147962, DOI: 10.1074/jbc.M501591200 *

Also Published As

Publication number Publication date
PH12020551913A1 (en) 2021-06-14
BR112020023298A2 (pt) 2021-03-09
EP3793566A4 (en) 2022-03-16
MA51938A1 (fr) 2021-11-30
MA51938B1 (fr) 2022-10-31
WO2019222354A1 (en) 2019-11-21
MX2020012269A (es) 2021-04-28
KR20210010549A (ko) 2021-01-27
US20210269825A1 (en) 2021-09-02
JP2021522836A (ja) 2021-09-02
SG11202011151VA (en) 2020-12-30
EP3793566A1 (en) 2021-03-24
AU2019268346A1 (en) 2020-12-24
CO2020015239A2 (es) 2021-03-08
CA3098249A1 (en) 2019-11-21
CL2020002955A1 (es) 2021-04-23

Similar Documents

Publication Publication Date Title
CN112469421A (zh) 减少剪接病和治疗rna显性疾病的组合物和方法
AU2019228504B2 (en) Novel adeno-associated virus (AAV) vectors, AAV vectors having reduced capsid deamidation and uses therefor
JP7381494B2 (ja) 転写調節要素及びその使用
CN119842635A (zh) 新颖腺相关病毒(aav)载体、具有降低的衣壳脱酰胺化的aav载体及其用途
CN116322789A (zh) 转基因表达系统
JP2024119900A (ja) 優性遺伝性カテコラミン誘発多形性心室頻拍の治療のための組成物および方法
US20240376497A1 (en) Frataxin gene therapy
CN117980482A (zh) Rbm20突变的基因组编辑
WO2024056902A2 (en) Compositions and methods for treating neurological diseases
WO2024161022A2 (en) Compositions and methods for treating neurological diseases
TW202409289A (zh) 用於治療肌強直性營養不良之組合物及方法
US20250257340A1 (en) Guide nucleic acid identification and methods of use
JP2026508803A (ja) 神経学的疾患を治療するための組成物及び方法
WO2025126153A2 (en) Compositions and methods for treating sod1-mediated neurological diseases
AU2024247959A1 (en) Nucleic acid off-switches and methods and uses thereof
WO2024006775A2 (en) Compositions and methods for the treatment of myotonic dystrophies
US20220380812A1 (en) Crispr/cas9 system as an agent for inhibition of polyoma jc infection
WO2024154102A1 (en) Compositions and methods for administration of therapeutic and diagnostic agents to the central nervous system

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
WD01 Invention patent application deemed withdrawn after publication

Application publication date: 20210309

WD01 Invention patent application deemed withdrawn after publication