EA201400566A1 - Соединения, предназначенные для модуляции сплайсинга smn2 - Google Patents

Соединения, предназначенные для модуляции сплайсинга smn2

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Publication number
EA201400566A1
EA201400566A1 EA201400566A EA201400566A EA201400566A1 EA 201400566 A1 EA201400566 A1 EA 201400566A1 EA 201400566 A EA201400566 A EA 201400566A EA 201400566 A EA201400566 A EA 201400566A EA 201400566 A1 EA201400566 A1 EA 201400566A1
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EA
Eurasian Patent Office
Prior art keywords
smn2
mrna
splicing
full
modeling
Prior art date
Application number
EA201400566A
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English (en)
Inventor
Сусанне Каммлер
Original Assignee
Сэнтерис Фарма А/С
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.)
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Publication date
Application filed by Сэнтерис Фарма А/С filed Critical Сэнтерис Фарма А/С
Publication of EA201400566A1 publication Critical patent/EA201400566A1/ru

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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
    • 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
    • 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
    • C12N15/111—General methods applicable to biologically active non-coding nucleic acids
    • 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
    • C12N2310/11—Antisense
    • 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
    • C12N2310/30—Chemical structure
    • C12N2310/31—Chemical structure of the backbone
    • C12N2310/315—Phosphorothioates
    • 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
    • C12N2310/30—Chemical structure
    • C12N2310/32—Chemical structure of the sugar
    • C12N2310/323—Chemical structure of the sugar modified ring structure
    • C12N2310/3231—Chemical structure of the sugar modified ring structure having an additional ring, e.g. LNA, ENA
    • 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
    • C12N2310/30—Chemical structure
    • C12N2310/32—Chemical structure of the sugar
    • C12N2310/323—Chemical structure of the sugar modified ring structure
    • C12N2310/3235—Chemical structure of the sugar modified ring structure having the O of the ribose replaced by another atom
    • 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
    • C12N2320/33—Alteration of splicing

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  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Biomedical Technology (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Chemical & Material Sciences (AREA)
  • Zoology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • General Chemical & Material Sciences (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurology (AREA)
  • Medicinal Chemistry (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Acyclic And Carbocyclic Compounds In Medicinal Compositions (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

В настоящей заявке описаны олигомерные соединения (олигомеры), которые направленно воздействуют на нуклеиновые кислоты, кодирующие человеческий SMN2 в клетке, приводя к модулированию сплайсинга мРНК SMN2 в сторону получения полноразмерной мРНК SMN2 по сравнению с обладающим более слабой функциональной активностью укороченным транскриптом, а именно SMN2 Δ7. Снижение экспрессии мРНК SMNΔ7 и/или повышение экспрессии полноразмерной мРНК SMN2 является полезным для лечения заболеваний или нарушений, ассоциированных со сверхэкспрессией или нежелательными высокими уровнями аномальных форм SMN2, прежде всего SMN2 Δ7, таких как спинальная мышечная атрофия (SMA).
EA201400566A 2011-11-11 2012-11-08 Соединения, предназначенные для модуляции сплайсинга smn2 EA201400566A1 (ru)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201161558462P 2011-11-11 2011-11-11
PCT/EP2012/072100 WO2013068441A1 (en) 2011-11-11 2012-11-08 Compounds for the modulation of smn2 splicing

Publications (1)

Publication Number Publication Date
EA201400566A1 true EA201400566A1 (ru) 2014-09-30

Family

ID=47178001

Family Applications (1)

Application Number Title Priority Date Filing Date
EA201400566A EA201400566A1 (ru) 2011-11-11 2012-11-08 Соединения, предназначенные для модуляции сплайсинга smn2

Country Status (13)

Country Link
US (1) US20140343127A1 (ru)
EP (1) EP2776563A1 (ru)
JP (1) JP2014533944A (ru)
KR (1) KR20140091587A (ru)
CN (1) CN103946380A (ru)
AU (1) AU2012334045A1 (ru)
BR (1) BR112014011018A2 (ru)
CA (1) CA2855241A1 (ru)
EA (1) EA201400566A1 (ru)
IL (1) IL232380A0 (ru)
MA (1) MA35635B1 (ru)
TN (1) TN2014000200A1 (ru)
WO (1) WO2013068441A1 (ru)

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EP3797780B1 (en) * 2014-04-17 2022-09-14 Biogen MA Inc. Compositions and methods for modulation of smn2 splicing in a subject
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
US10436802B2 (en) 2014-09-12 2019-10-08 Biogen Ma Inc. Methods for treating spinal muscular atrophy
AU2015327836B2 (en) 2014-10-03 2021-07-01 Cold Spring Harbor Laboratory Targeted augmentation of nuclear gene output
CN108603230A (zh) 2015-10-09 2018-09-28 南安普敦大学 基因表达的调节与蛋白质表达失调的筛选
WO2017106377A1 (en) 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and dravet syndrome
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
US11198867B2 (en) 2016-06-16 2021-12-14 Ionis Pharmaceuticals, Inc. Combinations for the modulation of SMN expression
KR102318434B1 (ko) 2017-08-25 2021-11-01 스톡 테라퓨틱스, 인크. 병태 및 질환 치료용 안티센스 올리고머
CA3099280A1 (en) 2018-05-04 2019-11-07 Stoke Therapeutics, Inc. Methods and compositions for treatment of cholesteryl ester storage disease
AU2020227825B2 (en) 2019-02-27 2026-03-26 Stoke Therapeutics, Inc. Antisense oligomers for treatment of conditions and diseases
EP4013387A4 (en) * 2019-08-15 2023-09-27 Biogen MA Inc. COMBINATION THERAPY FOR SPINAL MUSCLE ATROPHY
CN120505310A (zh) 2020-02-28 2025-08-19 Ionis制药公司 用于调节smn2的化合物和方法
CN115867657A (zh) 2020-05-11 2023-03-28 斯托克制药公司 用于治疗疾患和疾病的opa1反义寡聚物

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EP3470072A1 (en) 2005-06-23 2019-04-17 Biogen MA Inc. Compositions and methods for modulation of smn2 splicing
WO2007031091A2 (en) 2005-09-15 2007-03-22 Santaris Pharma A/S Rna antagonist compounds for the modulation of p21 ras expression
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Also Published As

Publication number Publication date
CA2855241A1 (en) 2013-05-16
TN2014000200A1 (en) 2015-09-30
US20140343127A1 (en) 2014-11-20
AU2012334045A1 (en) 2014-04-24
WO2013068441A1 (en) 2013-05-16
KR20140091587A (ko) 2014-07-21
EP2776563A1 (en) 2014-09-17
IL232380A0 (en) 2014-06-30
BR112014011018A2 (pt) 2017-05-02
MA35635B1 (fr) 2014-11-01
CN103946380A (zh) 2014-07-23
JP2014533944A (ja) 2014-12-18

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