MA51938B1 - Compositions et procédés pour réduire les anomalies d'épissage et traiter des troubles de dominance arn - Google Patents

Compositions et procédés pour réduire les anomalies d'épissage et traiter des troubles de dominance arn

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Publication number
MA51938B1
MA51938B1 MA51938A MA51938A MA51938B1 MA 51938 B1 MA51938 B1 MA 51938B1 MA 51938 A MA51938 A MA 51938A MA 51938 A MA51938 A MA 51938A MA 51938 B1 MA51938 B1 MA 51938B1
Authority
MA
Morocco
Prior art keywords
rna
compositions
methods
splicing
interfering rna
Prior art date
Application number
MA51938A
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English (en)
Other versions
MA51938A1 (fr
Inventor
Joel Chamberlain
Original Assignee
Univ 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 Univ Washington filed Critical Univ Washington
Publication of MA51938A1 publication Critical patent/MA51938A1/fr
Publication of MA51938B1 publication Critical patent/MA51938B1/fr

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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
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A61K31/7105—Natural ribonucleic acids, i.e. containing only riboses attached to adenine, guanine, cytosine or uracil and having 3'-5' phosphodiester links
    • 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
    • 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
    • C—CHEMISTRY; METALLURGY
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    • 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
    • C12N9/10—Transferases (2.)
    • C12N9/12—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • 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)
    • C12Y207/11—Protein-serine/threonine kinases (2.7.11)
    • C12Y207/11001—Non-specific serine/threonine protein kinase (2.7.11.1), i.e. casein kinase or checkpoint kinase
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/07—Animals genetically altered by homologous recombination
    • A01K2217/072—Animals genetically altered by homologous recombination maintaining or altering function, i.e. knock in
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00—Animals characterised by species
    • A01K2227/10—Mammal
    • A01K2227/105—Murine
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/0306—Animal model for genetic diseases
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/12—Type of nucleic acid catalytic nucleic acids, e.g. ribozymes
    • C12N2310/122—Hairpin
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/14—Type of nucleic acid interfering N.A.
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/14—Type of nucleic acid interfering N.A.
    • C12N2310/141—MicroRNAs, miRNAs
    • 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
    • C12N2310/50—Physical structure
    • C12N2310/53—Physical structure partially self-complementary or closed
    • C12N2310/531—Stem-loop; Hairpin
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/32—Special delivery means, e.g. tissue-specific
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • 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

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Public Health (AREA)
  • Biophysics (AREA)
  • Virology (AREA)
  • Veterinary Medicine (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (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)

Abstract

L'invention concerne des compositions et des procédés pour le traitement de troubles associés à l'épissage incorrect d'acide ribonucléique (arn), notamment des troubles caractérisés par la rétention nucléaire de transcrits d'arn contenant des régions répétées étendues de manière aberrante qui lient et séquestrent des protéines de facteur d'épissage. L'invention concerne des constructions d'arn interférant qui suppriment l'expression de transcrits d'arn contenant des régions répétées étendues, ainsi que des vecteurs viraux, tels que des vecteurs viraux adénoassociés, codant de telles molécules d'arn interférant. Par exemple, l'invention concerne des molécules d'arn interférant, telles que des constructions d'arnsi, de miarn et de sharn, qui s'hybrident à des transcrits d'arn de la protéine kinase de la dystrophie myotonique (dmpk) et atténuent l'expression de l'arn de dmpk contenant des répétitions de trinucléotides cug étendues. En utilisant les compositions et les procédés de l'invention, un patient ayant un trouble de dominance arn, tel qu'un patient humain atteint d'une dystrophie myotonique, parmi d'autres affections décrites ici, peut recevoir une construction d'arn interférant ou un vecteur la contenant afin de réduire l'apparition d'une anomalie d'épissage chez le patient, ce qui permet de traiter une étiologie sous-jacente de la maladie.
MA51938A 2018-05-15 2019-05-15 Compositions et procédés pour réduire les anomalies d'épissage et traiter des troubles de dominance arn MA51938B1 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201862671769P 2018-05-15 2018-05-15
PCT/US2019/032423 WO2019222354A1 (fr) 2018-05-15 2019-05-15 Compositions et procédés pour réduire les anomalies d'épissage et traiter des troubles de dominance arn

Publications (2)

Publication Number Publication Date
MA51938A1 MA51938A1 (fr) 2021-11-30
MA51938B1 true MA51938B1 (fr) 2022-10-31

Family

ID=68540673

Family Applications (1)

Application Number Title Priority Date Filing Date
MA51938A MA51938B1 (fr) 2018-05-15 2019-05-15 Compositions et procédés pour réduire les anomalies d'épissage et traiter des troubles de dominance arn

Country Status (15)

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

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2023034870A2 (fr) 2021-09-01 2023-03-09 Ionis Pharmaceuticals, Inc. Composés et méthodes pour réduire l'expression de dmpk
US20230365968A1 (en) * 2022-04-06 2023-11-16 Genzyme Corporation Targeted gene therapy for dm-1 myotonic dystrophy
WO2023220719A2 (fr) * 2022-05-13 2023-11-16 University Of Washington Méthode de traitement de la dystrophie myotonique combinant l'expression de protéines et l'administration de vecteurs d'interférence d'arn avec un déciblage tissulaire
WO2024006770A1 (fr) * 2022-06-27 2024-01-04 Astellas Gene Therapies, Inc. Compositions et procédés pour le traitement de dystrophies myotoniques

Family Cites Families (5)

* 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
US20050042646A1 (en) * 2002-08-05 2005-02-24 Davidson Beverly L. RNA interference suppresion of neurodegenerative diseases and methods of use thereof
HUE043842T2 (hu) * 2014-12-24 2019-09-30 Uniqure Ip Bv RNAi-indukált huntingtin gén szuppresszió
WO2017079291A1 (fr) * 2015-11-02 2017-05-11 Ionis Pharmaceuticals, Inc. Composés et méthodes de modulation de c90rf72
SG10202102997UA (en) * 2016-09-30 2021-04-29 Regeneron Pharma Non-human animals having a hexanucleotide repeat expansion in a c9orf72 locus

Also Published As

Publication number Publication date
BR112020023298A2 (pt) 2021-03-09
PH12020551913A1 (en) 2021-06-14
CO2020015239A2 (es) 2021-03-08
SG11202011151VA (en) 2020-12-30
WO2019222354A1 (fr) 2019-11-21
MA51938A1 (fr) 2021-11-30
JP2021522836A (ja) 2021-09-02
CN112469421A (zh) 2021-03-09
MX2020012269A (es) 2021-04-28
KR20210010549A (ko) 2021-01-27
AU2019268346A1 (en) 2020-12-24
US20210269825A1 (en) 2021-09-02
CL2020002955A1 (es) 2021-04-23
CA3098249A1 (fr) 2019-11-21
EP3793566A1 (fr) 2021-03-24
EP3793566A4 (fr) 2022-03-16

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