CA3005245A1 - Antisense oligomers for treatment of alagille syndrome - Google Patents

Antisense oligomers for treatment of alagille syndrome Download PDF

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Publication number
CA3005245A1
CA3005245A1 CA3005245A CA3005245A CA3005245A1 CA 3005245 A1 CA3005245 A1 CA 3005245A1 CA 3005245 A CA3005245 A CA 3005245A CA 3005245 A CA3005245 A CA 3005245A CA 3005245 A1 CA3005245 A1 CA 3005245A1
Authority
CA
Canada
Prior art keywords
nucleobases
mrna
fold
protein
ric pre
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.)
Abandoned
Application number
CA3005245A
Other languages
English (en)
French (fr)
Inventor
Isabel AZNAREZ
Huw M. Nash
Adrian Krainer
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.)
Cold Spring Harbor Laboratory
Stoke Therapeutics Inc
Original Assignee
Cold Spring Harbor Laboratory
Stoke Therapeutics Inc
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 Cold Spring Harbor Laboratory, Stoke Therapeutics Inc filed Critical Cold Spring Harbor Laboratory
Publication of CA3005245A1 publication Critical patent/CA3005245A1/en
Abandoned legal-status Critical Current

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    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P1/00—Drugs for disorders of the alimentary tract or the digestive system
    • A61P1/16—Drugs for disorders of the alimentary tract or the digestive system for liver or gallbladder disorders, e.g. hepatoprotective agents, cholagogues, litholytics
    • 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
    • A61P21/04—Drugs for disorders of the muscular or neuromuscular system for myasthenia gravis
    • 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
    • C12N15/111—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
    • 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
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • 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
    • C12N2310/321—2'-O-R Modification
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Biomedical Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Immunology (AREA)
  • Plant Pathology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Neurology (AREA)
  • Pathology (AREA)
  • Epidemiology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Saccharide Compounds (AREA)
CA3005245A 2015-12-14 2016-12-13 Antisense oligomers for treatment of alagille syndrome Abandoned CA3005245A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201562267210P 2015-12-14 2015-12-14
US62/267,210 2015-12-14
PCT/US2016/066414 WO2017106210A1 (en) 2015-12-14 2016-12-13 Antisense oligomers for treatment of alagille syndrome

Publications (1)

Publication Number Publication Date
CA3005245A1 true CA3005245A1 (en) 2017-06-22

Family

ID=59057483

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3005245A Abandoned CA3005245A1 (en) 2015-12-14 2016-12-13 Antisense oligomers for treatment of alagille syndrome

Country Status (4)

Country Link
EP (1) EP3389671A4 (enExample)
JP (2) JP2018538288A (enExample)
CA (1) CA3005245A1 (enExample)
WO (1) WO2017106210A1 (enExample)

Families Citing this family (18)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB201410693D0 (en) 2014-06-16 2014-07-30 Univ Southampton Splicing modulation
CN107109411B (zh) 2014-10-03 2022-07-01 冷泉港实验室 核基因输出的定向增加
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
CN116059236A (zh) 2015-12-14 2023-05-05 冷泉港实验室 用于治疗常染色体显性精神发育迟滞5型和Dravet综合征的反义寡聚体
US11096956B2 (en) 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
CA3049980A1 (en) 2017-01-23 2018-07-26 Regeneron Pharmaceuticals, Inc. Hydroxysteroid 17-beta dehydrogenase 13 (hsd17b13) variants and uses thereof
JP7048574B2 (ja) 2017-03-10 2022-04-05 国立研究開発法人国立成育医療研究センター アンチセンスオリゴヌクレオチドおよび糖原病Ｉａ型予防または治療用組成物
CA3059348A1 (en) 2017-04-11 2018-10-18 Regeneron Pharmaceuticals, Inc. Assays for screening activity of modulators of members of the hydroxysteroid (17-beta) dehydrogenase (hsd17b) family
CA3071033A1 (en) 2017-08-18 2019-02-21 Ionis Pharmaceuticals, Inc. Modulation of the notch signaling pathway for treatment of respiratory disorders
KR20260009385A (ko) 2017-08-25 2026-01-19 스톡 테라퓨틱스, 인크. 병태 및 질환 치료용 안티센스 올리고머
AU2018348195B2 (en) 2017-10-11 2025-05-15 Regeneron Pharmaceuticals, Inc. Inhibition of HSD17B13 in the treatment of liver disease in patients expressing the PNPLA3 I148M variation
WO2019172286A1 (ja) * 2018-03-09 2019-09-12 第一三共株式会社 糖原病Ｉａ型治療薬
MY207352A (en) 2018-03-21 2025-02-21 Regeneron Pharma 17-hydroxysteroid dehydrogenase type 13 (hsd17b13) irna compositions and methods of use thereof
WO2019210279A1 (en) * 2018-04-27 2019-10-31 The Regents Of The University Of California De novo formation of the biliary system by hepatocyte transdifferentiation
JP2021523227A (ja) 2018-05-04 2021-09-02 ストーク セラピューティクス，インク． コレステリルエステル蓄積症の処置のための方法及び組成物
CN119193702A (zh) * 2018-09-06 2024-12-27 加利福尼亚大学董事会 经由改造的adar募集的rna和dna碱基编辑
KR20210134003A (ko) 2019-02-27 2021-11-08 스톡 테라퓨틱스, 인크. 병태 및 질환의 치료를 위한 안티센스 올리고머
US12338437B2 (en) 2020-05-11 2025-06-24 Stoke Therapeutics, Inc. OPA1 antisense oligomers for treatment of conditions and diseases

Family Cites Families (16)

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US4866042A (en) 1987-11-18 1989-09-12 Neuwelt Edward A Method for the delivery of genetic material across the blood brain barrier
US6294520B1 (en) 1989-03-27 2001-09-25 Albert T. Naito Material for passage through the blood-brain barrier
US5151510A (en) 1990-04-20 1992-09-29 Applied Biosystems, Inc. Method of synethesizing sulfurized oligonucleotide analogs
DE69334238D1 (de) 1992-09-25 2008-09-25 Aventis Pharma Sa Adenovirus vektoren für die übertragung fremder gene in zellen des zentralen nervensystems, insbesondere im gehirn
US5656612A (en) 1994-05-31 1997-08-12 Isis Pharmaceuticals, Inc. Antisense oligonucleotide modulation of raf gene expression
FR2727867B1 (fr) 1994-12-13 1997-01-31 Rhone Poulenc Rorer Sa Transfert de genes dans les motoneurones medullaires au moyen de vecteurs adenoviraux
US6936589B2 (en) 2001-09-28 2005-08-30 Albert T. Naito Parenteral delivery systems
US20040102401A1 (en) * 2002-11-22 2004-05-27 Isis Pharmaceuticals Inc. Modulation of jagged 1 expression
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US8258109B2 (en) 2005-10-20 2012-09-04 Isis Pharmaceuticals, Inc. Compositions and methods for modulation of LMNA expression
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KR20220084437A (ko) 2009-06-17 2022-06-21 바이오젠 엠에이 인코포레이티드 대상에게서 ｓｍｎ２ 스플라이싱을 조정하기 위한 조성물 및 방법
CN107365339A (zh) 2011-07-19 2017-11-21 波涛生命科学有限公司 合成官能化核酸的方法
WO2015035091A1 (en) 2013-09-04 2015-03-12 Cold Spring Harbor Laboratory Reducing nonsense-mediated mrna decay

Also Published As

Publication number Publication date
WO2017106210A1 (en) 2017-06-22
EP3389671A1 (en) 2018-10-24
EP3389671A4 (en) 2019-07-17
JP2022106803A (ja) 2022-07-20
JP2018538288A (ja) 2018-12-27

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EEER Examination request

Effective date: 20211213

FZDE Discontinued

Effective date: 20240501