JP2023534720A - Scn2a中の機能喪失変異に関連する障害を処置するための組成物及び方法 - Google Patents
Scn2a中の機能喪失変異に関連する障害を処置するための組成物及び方法 Download PDFInfo
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- JP2023534720A JP2023534720A JP2023504330A JP2023504330A JP2023534720A JP 2023534720 A JP2023534720 A JP 2023534720A JP 2023504330 A JP2023504330 A JP 2023504330A JP 2023504330 A JP2023504330 A JP 2023504330A JP 2023534720 A JP2023534720 A JP 2023534720A
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- intron
- antisense oligonucleotide
- scn2a
- mrna
- sequence
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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
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/08—Antiepileptics; Anticonvulsants
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- 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
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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
- A61K31/7125—Nucleic acids or oligonucleotides having modified internucleoside linkage, i.e. other than 3'-5' phosphodiesters
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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
- A61K31/713—Double-stranded nucleic acids or oligonucleotides
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
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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
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- 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
- C12N2310/10—Type of nucleic acid
- 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
- C12N2310/30—Chemical structure
- C12N2310/32—Chemical structure of the sugar
- C12N2310/321—2'-O-R Modification
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- C12N2310/00—Structure or type of the nucleic acid
- C12N2310/30—Chemical structure
- C12N2310/32—Chemical structure of the sugar
- C12N2310/322—2'-R Modification
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- 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
- C12N2310/30—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
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- 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
- C12N2310/30—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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- 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
- C12N2310/30—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
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- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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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- Biomedical Technology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Genetics & Genomics (AREA)
- General Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Molecular Biology (AREA)
- Public Health (AREA)
- Veterinary Medicine (AREA)
- Animal Behavior & Ethology (AREA)
- Pharmacology & Pharmacy (AREA)
- Medicinal Chemistry (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- 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)
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 (2)
| Publication Number | Publication Date |
|---|---|
| JP2023534720A true JP2023534720A (ja) | 2023-08-10 |
| JP2023534720A5 JP2023534720A5 (enExample) | 2024-07-18 |
Family
ID=79729542
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2023504330A Pending JP2023534720A (ja) | 2020-07-22 | 2021-07-22 | Scn2a中の機能喪失変異に関連する障害を処置するための組成物及び方法 |
Country Status (15)
| Country | Link |
|---|---|
| US (1) | US20230272387A1 (enExample) |
| EP (1) | EP4185697A4 (enExample) |
| JP (1) | JP2023534720A (enExample) |
| KR (1) | KR20230095056A (enExample) |
| CN (1) | CN116368227A (enExample) |
| AU (1) | AU2021311137A1 (enExample) |
| BR (1) | BR112023000988A2 (enExample) |
| CA (1) | CA3186629A1 (enExample) |
| CL (1) | CL2023000208A1 (enExample) |
| CO (1) | CO2023001922A2 (enExample) |
| EC (1) | ECSP23012641A (enExample) |
| IL (1) | IL299999A (enExample) |
| MX (1) | MX2023000907A (enExample) |
| PE (1) | PE20230982A1 (enExample) |
| WO (1) | WO2022016222A1 (enExample) |
Families Citing this family (2)
| 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 |
Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2019143831A1 (en) * | 2018-01-17 | 2019-07-25 | Rogcon U.R., Inc. | Compositions and methods for increasing expression of scn2a |
Family Cites Families (13)
| 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 |
| 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 |
-
2021
- 2021-07-22 KR KR1020237005996A patent/KR20230095056A/ko active Pending
- 2021-07-22 EP EP21845305.8A patent/EP4185697A4/en active Pending
- 2021-07-22 CA CA3186629A patent/CA3186629A1/en active Pending
- 2021-07-22 MX MX2023000907A patent/MX2023000907A/es unknown
- 2021-07-22 PE PE2023000101A patent/PE20230982A1/es unknown
- 2021-07-22 AU AU2021311137A patent/AU2021311137A1/en active Pending
- 2021-07-22 US US18/005,800 patent/US20230272387A1/en active Pending
- 2021-07-22 JP JP2023504330A patent/JP2023534720A/ja active Pending
- 2021-07-22 BR BR112023000988A patent/BR112023000988A2/pt unknown
- 2021-07-22 WO PCT/AU2021/050788 patent/WO2022016222A1/en not_active Ceased
- 2021-07-22 IL IL299999A patent/IL299999A/en unknown
- 2021-07-22 CN CN202180064122.5A patent/CN116368227A/zh active Pending
-
2023
- 2023-01-20 CL CL2023000208A patent/CL2023000208A1/es unknown
- 2023-02-21 CO CONC2023/0001922A patent/CO2023001922A2/es unknown
- 2023-02-22 EC ECSENADI202312641A patent/ECSP23012641A/es unknown
Patent Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2019143831A1 (en) * | 2018-01-17 | 2019-07-25 | Rogcon U.R., Inc. | Compositions and methods for increasing expression of scn2a |
Also Published As
| Publication number | Publication date |
|---|---|
| CA3186629A1 (en) | 2022-01-27 |
| BR112023000988A2 (pt) | 2023-03-28 |
| EP4185697A1 (en) | 2023-05-31 |
| 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 |
| AU2021311137A1 (en) | 2023-03-23 |
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