MX2023000907A - Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en scn2a. - Google Patents
Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en scn2a.Info
- Publication number
- MX2023000907A MX2023000907A MX2023000907A MX2023000907A MX2023000907A MX 2023000907 A MX2023000907 A MX 2023000907A MX 2023000907 A MX2023000907 A MX 2023000907A MX 2023000907 A MX2023000907 A MX 2023000907A MX 2023000907 A MX2023000907 A MX 2023000907A
- Authority
- MX
- Mexico
- Prior art keywords
- scn2a
- methods
- mrna
- disorders associated
- treating disorders
- Prior art date
Links
- 238000000034 method Methods 0.000 title abstract 4
- 230000004777 loss-of-function mutation Effects 0.000 title abstract 2
- 239000000203 mixture Substances 0.000 title 1
- 101000684826 Homo sapiens Sodium channel protein type 2 subunit alpha Proteins 0.000 abstract 4
- 102100023150 Sodium channel protein type 2 subunit alpha Human genes 0.000 abstract 4
- 239000000074 antisense oligonucleotide Substances 0.000 abstract 4
- 238000012230 antisense oligonucleotides Methods 0.000 abstract 4
- 108020004999 messenger RNA Proteins 0.000 abstract 4
- 108020000948 Antisense Oligonucleotides Proteins 0.000 abstract 2
- 108091034117 Oligonucleotide Proteins 0.000 abstract 2
- 230000000717 retained effect Effects 0.000 abstract 2
- 230000000295 complement effect Effects 0.000 abstract 1
Classifications
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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
- 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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- 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
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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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- 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
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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
-
- 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
-
- 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
- A61P25/18—Antipsychotics, i.e. neuroleptics; Drugs for mania or schizophrenia
-
- 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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- 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
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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
- 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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- 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
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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
- 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
-
- 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
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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
- 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
-
- 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
- C12N2310/35—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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- 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
- C12N2320/10—Applications; Uses in screening processes
- C12N2320/11—Applications; Uses in screening processes for the determination of target sites, i.e. of active nucleic acids
-
- 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
Landscapes
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Chemical & Material Sciences (AREA)
- 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 (2)
| 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 | |
| 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 |
|---|---|
| MX2023000907A true MX2023000907A (es) | 2023-04-27 |
Family
ID=79729542
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| MX2023000907A MX2023000907A (es) | 2020-07-22 | 2021-07-22 | Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en scn2a. |
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 |
Family Cites Families (14)
| 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 |
-
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
Also Published As
| 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 |
| 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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