AU2021311137A1 - Compositions and methods for treating disorders associated with loss-of-function mutations in SCN2a - Google Patents

Compositions and methods for treating disorders associated with loss-of-function mutations in SCN2a Download PDF

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Publication number
AU2021311137A1
AU2021311137A1 AU2021311137A AU2021311137A AU2021311137A1 AU 2021311137 A1 AU2021311137 A1 AU 2021311137A1 AU 2021311137 A AU2021311137 A AU 2021311137A AU 2021311137 A AU2021311137 A AU 2021311137A AU 2021311137 A1 AU2021311137 A1 AU 2021311137A1
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Australia
Prior art keywords
antisense oligonucleotide
intron
scn2a
mrna
sequence
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Pending
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AU2021311137A
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English (en)
Inventor
Steven Petrou
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.)
Florey Institute of Neuroscience and Mental Health
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Florey Institute of Neuroscience and Mental Health
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Publication date
Priority claimed from AU2020902550A external-priority patent/AU2020902550A0/en
Application filed by Florey Institute of Neuroscience and Mental Health filed Critical Florey Institute of Neuroscience and Mental Health
Publication of AU2021311137A1 publication Critical patent/AU2021311137A1/en
Pending legal-status Critical Current

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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
    • 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
    • A61K31/712—Nucleic acids or oligonucleotides having modified sugars, i.e. other than ribose or 2'-deoxyribose
    • 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
    • A61K31/7125—Nucleic acids or oligonucleotides having modified internucleoside linkage, i.e. other than 3'-5' phosphodiesters
    • 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
    • A61K31/713—Double-stranded nucleic acids or oligonucleotides
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    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/08—Antiepileptics; Anticonvulsants
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
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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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K2121/00—Preparations for use in therapy
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    • C12N2310/00—Structure or type of the nucleic acid
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    • C12N2310/11—Antisense
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/31—Chemical structure of the backbone
    • C12N2310/315—Phosphorothioates
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    • C12N2310/00—Structure or type of the nucleic acid
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    • C12N2310/32—Chemical structure of the sugar
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    • C12N2310/30—Chemical structure
    • C12N2310/32—Chemical structure of the sugar
    • C12N2310/323—Chemical structure of the sugar modified ring structure
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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
    • C12N2310/3521—Methyl
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    • C12N2310/30—Chemical structure
    • C12N2310/35—Nature of the modification
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    • C12N2310/3525—MOE, methoxyethoxy
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    • C12N2320/00—Applications; Uses
    • C12N2320/10—Applications; Uses in screening processes
    • C12N2320/11—Applications; Uses in screening processes for the determination of target sites, i.e. of active nucleic acids
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    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications
    • C12N2320/33—Alteration of splicing

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  • Bioinformatics & Cheminformatics (AREA)
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  • General Health & Medical Sciences (AREA)
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  • Molecular Biology (AREA)
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  • Animal Behavior & Ethology (AREA)
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  • Biochemistry (AREA)
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  • Biotechnology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Epidemiology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Psychiatry (AREA)
  • Pain & Pain Management (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
AU2021311137A 2020-07-22 2021-07-22 Compositions and methods for treating disorders associated with loss-of-function mutations in SCN2a Pending AU2021311137A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
AU2020902550A AU2020902550A0 (en) 2020-07-22 Compositions and methods for treating disorders associated with loss-of-function mutations in SCN2A
AU2020902550 2020-07-22
PCT/AU2021/050788 WO2022016222A1 (en) 2020-07-22 2021-07-22 Compositions and methods for treating disorders associated with loss-of-function mutations in scn2a

Publications (1)

Publication Number Publication Date
AU2021311137A1 true AU2021311137A1 (en) 2023-03-23

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ID=79729542

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AU2021311137A Pending AU2021311137A1 (en) 2020-07-22 2021-07-22 Compositions and methods for treating disorders associated with loss-of-function mutations in SCN2a

Country Status (15)

Country Link
US (1) US20230272387A1 (https=)
EP (1) EP4185697A4 (https=)
JP (1) JP2023534720A (https=)
KR (1) KR20230095056A (https=)
CN (1) CN116368227A (https=)
AU (1) AU2021311137A1 (https=)
BR (1) BR112023000988A2 (https=)
CA (1) CA3186629A1 (https=)
CL (1) CL2023000208A1 (https=)
CO (1) CO2023001922A2 (https=)
EC (1) ECSP23012641A (https=)
IL (1) IL299999A (https=)
MX (1) MX2023000907A (https=)
PE (1) PE20230982A1 (https=)
WO (1) WO2022016222A1 (https=)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP4473113A4 (en) * 2022-02-04 2026-03-25 Praxis Prec Medicines Inc TREATMENT METHODS FOR DISORDERS RELATED TO SCN2A
KR20250180156A (ko) 2024-06-21 2025-12-31 중앙대학교 산학협력단 뇌전증의 예방 또는 치료용 조성물, 및 뇌전증 치료제 스크리닝 방법과 이의 조성물

Family Cites Families (14)

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Publication number Priority date Publication date Assignee Title
DE1252330T1 (de) * 1999-11-26 2003-11-27 Mcgill University, Montreal Loci der idiopathischen epilepsie, mutationen derselben und verfahren zu deren verwendung zur feststellung, prognose und behandlung von epilepsie
EP1268856A2 (de) * 2000-04-07 2003-01-02 Epigenomics AG Detektion von snp's und cytosin-methylierungen
AU2001276919A1 (en) * 2000-07-13 2002-01-30 Genaissance Pharmaceuticals, Inc. Haplotypes of the mmp13 gene
CA2541836A1 (en) * 2003-10-13 2005-04-21 Bionomics Limited A diagnostic method for neonatal or infantile epilepsy syndromes
CN101148665A (zh) * 2005-12-05 2008-03-26 广州医学院第二附属医院 钠离子通道scn1a基因突变及基因突变检测方法和用途
WO2010151671A2 (en) * 2009-06-24 2010-12-29 Curna, Inc. Treatment of tumor necrosis factor receptor 2 (tnfr2) related diseases by inhibition of natural antisense transcript to tnfr2
EP2490699A1 (en) * 2009-10-20 2012-08-29 Santaris Pharma A/S Oral delivery of therapeutically effective lna oligonucleotides
US20150141320A1 (en) * 2012-05-16 2015-05-21 Rana Therapeutics, Inc. Compositions and methods for modulating gene expression
CN109843914B (zh) * 2016-07-06 2024-03-15 沃泰克斯药物股份有限公司 用于治疗疼痛相关病症的材料和方法
KR20190030833A (ko) * 2017-09-15 2019-03-25 가톨릭대학교 산학협력단 신장암 환자의 예후 진단 및 치료 전략 결정용 연령 특이적 마커
HUE070436T2 (hu) * 2017-10-23 2025-06-28 Stoke Therapeutics Inc Antiszensz oligomerek nonszensz-mediált RNS-lebomláson alapuló állapotok és betegségek kezelésére
US11713463B2 (en) * 2018-01-17 2023-08-01 The Florey Institute Of Neuroscience And Mental Health Compositions and methods for increasing expression of SCN2A
BR112021003224A2 (pt) * 2018-08-20 2021-07-20 Rogcon, Inc. oligonucleotídeos antissentido direcionados a scn2a para o tratamento de encefalopatias por scn1a
US20220090087A1 (en) * 2019-01-23 2022-03-24 The Florey Institute Of Neuroscience And Mental Health Antisense oligonucleotides targeting scn2a retained introns

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Publication number Publication date
CA3186629A1 (en) 2022-01-27
BR112023000988A2 (pt) 2023-03-28
EP4185697A1 (en) 2023-05-31
JP2023534720A (ja) 2023-08-10
ECSP23012641A (es) 2023-03-31
CO2023001922A2 (es) 2023-06-09
CN116368227A (zh) 2023-06-30
WO2022016222A1 (en) 2022-01-27
EP4185697A4 (en) 2025-01-01
PE20230982A1 (es) 2023-06-21
MX2023000907A (es) 2023-04-27
IL299999A (en) 2023-03-01
KR20230095056A (ko) 2023-06-28
CL2023000208A1 (es) 2023-07-21
US20230272387A1 (en) 2023-08-31

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