CA3147970A1 - Compositions and methods for modulating splicing and protein expression - Google Patents

Compositions and methods for modulating splicing and protein expression Download PDF

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Publication number
CA3147970A1
CA3147970A1 CA3147970A CA3147970A CA3147970A1 CA 3147970 A1 CA3147970 A1 CA 3147970A1 CA 3147970 A CA3147970 A CA 3147970A CA 3147970 A CA3147970 A CA 3147970A CA 3147970 A1 CA3147970 A1 CA 3147970A1
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premma
transcript
fold
exon
mrna
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CA3147970A
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English (en)
French (fr)
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Isabel AZNAREZ
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Stoke Therapeutics Inc
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Stoke Therapeutics Inc
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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
    • C12N15/1138—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 receptors or cell surface proteins
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A61K31/7125—Nucleic acids or oligonucleotides having modified internucleoside linkage, i.e. other than 3'-5' phosphodiesters
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    • C12N2310/00—Structure or type of the nucleic acid
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/31—Chemical structure of the backbone
    • C12N2310/314—Phosphoramidates
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    • C12N2310/00—Structure or type of the nucleic acid
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    • C12N2310/315—Phosphorothioates
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    • C12N2310/00—Structure or type of the nucleic acid
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    • C12N2310/321—2'-O-R Modification
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    • C12N2310/00—Structure or type of the nucleic acid
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    • 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
    • C12N2310/3233—Morpholino-type ring
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/34—Spatial arrangement of the modifications
    • C12N2310/346—Spatial arrangement of the modifications having a combination of backbone and sugar modifications
    • C—CHEMISTRY; METALLURGY
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/35—Nature of the modification
    • C12N2310/352—Nature of the modification linked to the nucleic acid via a carbon atom
    • C12N2310/3525—MOE, methoxyethoxy
    • 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
    • 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)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Biomedical Technology (AREA)
  • Chemical & Material Sciences (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Microbiology (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicinal Preparation (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
CA3147970A 2019-08-19 2020-08-19 Compositions and methods for modulating splicing and protein expression Pending CA3147970A1 (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201962888887P 2019-08-19 2019-08-19
US62/888,887 2019-08-19
US202063049262P 2020-07-08 2020-07-08
US63/049,262 2020-07-08
PCT/US2020/047081 WO2021034985A1 (en) 2019-08-19 2020-08-19 Compositions and methods for modulating splicing and protein expression

Publications (1)

Publication Number Publication Date
CA3147970A1 true CA3147970A1 (en) 2021-02-25

Family

ID=74659533

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3147970A Pending CA3147970A1 (en) 2019-08-19 2020-08-19 Compositions and methods for modulating splicing and protein expression

Country Status (11)

Country Link
US (1) US20220290142A1 (https=)
EP (1) EP4017979A4 (https=)
JP (1) JP2022544702A (https=)
KR (1) KR20220104677A (https=)
CN (1) CN114746550A (https=)
AU (1) AU2020334067A1 (https=)
BR (1) BR112022002905A2 (https=)
CA (1) CA3147970A1 (https=)
IL (1) IL290595A (https=)
MX (1) MX2022002198A (https=)
WO (1) WO2021034985A1 (https=)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113891940A (zh) * 2019-05-27 2022-01-04 视觉制药私人有限公司 视网膜色素变性的新治疗方法

Families Citing this family (12)

* Cited by examiner, † Cited by third party
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EP4025345A4 (en) * 2019-09-03 2024-02-28 The Regents Of The University Of Colorado, A Body Corporate Systems, methods, and compositions for the rapid early-detection of host rna biomarkers of infection and early identification of covid-19 coronavirus infection in humans
AU2021272832A1 (en) * 2020-05-11 2022-12-15 The Florey Institute Of Neuroscience And Mental Health Compositions and methods for treating disorders associated with loss-of-function mutations in SYNGAP1
EP4359538A4 (en) * 2021-06-21 2025-09-17 Stoke Therapeutics Inc ANTISENSE OLIGOMERS FOR THE TREATMENT OF CONDITIONS AND DISEASES BASED ON THE DEGRADATION OF NONSENSE MRNA
WO2023004021A2 (en) * 2021-07-23 2023-01-26 The Children's Medical Center Corporation Zinc finger ccch-type containing 14 (zc3h14) mutants and methods of use
WO2023163801A1 (en) * 2022-02-24 2023-08-31 Q-State Biosciences, Inc. Therapeutics for syngap haploinsufficiency
US20250230467A1 (en) * 2022-04-05 2025-07-17 The Johns Hopkins University Methods and materials for treating syngap1-associated neurodevelopmental disorders
WO2023212625A1 (en) * 2022-04-28 2023-11-02 AcuraStem Incorporated Syf2 antisense oligonucleotides
WO2023220727A1 (en) * 2022-05-13 2023-11-16 The Trustees Of The University Of Pennsylvania Compositions for treating syngap-1 related neurodevelopmental disorders
CN119948160A (zh) * 2022-06-28 2025-05-06 新加坡科技研究局 寡核苷酸
WO2025090633A1 (en) * 2023-10-23 2025-05-01 Regeneron Pharmaceuticals, Inc. Compositions and methods comprising small nuclear rna (snrna) for treating genetic epilepsies
WO2025111249A2 (en) * 2023-11-20 2025-05-30 Dana-Farber Cancer Institute, Inc. Methods, kits and systems for determining sarcomatoid differentiation of renal cell carcinoma and methods for treating based on the same
GB202401412D0 (en) * 2024-02-02 2024-03-20 Harness Therapeutics Ltd Functional nucleic acid

Family Cites Families (13)

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WO2009064920A2 (en) * 2007-11-13 2009-05-22 Isis Pharmaceuticals, Inc. Compounds and methods for modulating protein expression
JP2012507989A (ja) * 2008-11-07 2012-04-05 センター ホスピタライヤー ユニヴェルシテール サント−ジュスティーヌ Ｓｙｎｇａｐ１機能不全ならびに精神遅滞の診断および治療用途でのその使用
CN107109411B (zh) * 2014-10-03 2022-07-01 冷泉港实验室 核基因输出的定向增加
EP3359685B1 (en) * 2015-10-09 2026-01-28 University Of Southampton Modulation of gene expression for deregulated protein expression
JP2018538287A (ja) * 2015-12-14 2018-12-27 コールド スプリング ハーバー ラボラトリー 多発性嚢胞腎の処置のためのアンチセンスオリゴマー
WO2017106375A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of tuberous sclerosis complex
EP3390666A4 (en) * 2015-12-14 2019-08-07 Cold Spring Harbor Laboratory COMPOSITIONS AND METHODS OF TREATING NURSE DISEASES
CA3005090A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Compositions and methods for treatment of liver diseases
EP3933041B1 (en) * 2015-12-14 2024-01-31 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant retardation
EP3390634A4 (en) * 2015-12-14 2019-08-14 Cold Spring Harbor Laboratory COMPOSITIONS AND METHODS FOR THE TREATMENT OF EYE DISEASES
JP2019535789A (ja) * 2016-11-28 2019-12-12 ピーティーシー セラピューティクス，インコーポレーテッド Ｒｎａスプライシングを調節する方法
SG11202001590RA (en) * 2017-08-25 2020-03-30 Stoke Therapeutics Inc Antisense oligomers for treatment of conditions and diseases
GB2610100B (en) * 2017-10-23 2023-08-16 Stoke Therapeutics Inc Antisense oligomers for treatment of non-sense mediated RNA decay based conditions and diseases

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113891940A (zh) * 2019-05-27 2022-01-04 视觉制药私人有限公司 视网膜色素变性的新治疗方法
CN113891940B (zh) * 2019-05-27 2024-12-20 视觉制药私人有限公司 视网膜色素变性的新治疗方法

Also Published As

Publication number Publication date
BR112022002905A2 (pt) 2022-07-12
WO2021034985A1 (en) 2021-02-25
KR20220104677A (ko) 2022-07-26
IL290595A (en) 2022-04-01
EP4017979A4 (en) 2024-03-27
CN114746550A (zh) 2022-07-12
EP4017979A1 (en) 2022-06-29
AU2020334067A1 (en) 2022-03-17
US20220290142A1 (en) 2022-09-15
MX2022002198A (es) 2022-05-24
JP2022544702A (ja) 2022-10-20

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