MX2022014155A - Composiciones y metodos para tratar trastornos asociados a mutaciones de perdida de funcion en syngap1. - Google Patents
Composiciones y metodos para tratar trastornos asociados a mutaciones de perdida de funcion en syngap1.Info
- Publication number
- MX2022014155A MX2022014155A MX2022014155A MX2022014155A MX2022014155A MX 2022014155 A MX2022014155 A MX 2022014155A MX 2022014155 A MX2022014155 A MX 2022014155A MX 2022014155 A MX2022014155 A MX 2022014155A MX 2022014155 A MX2022014155 A MX 2022014155A
- Authority
- MX
- Mexico
- Prior art keywords
- syngap1
- loss
- function mutations
- methods
- compositions
- Prior art date
Links
- 230000004777 loss-of-function mutation Effects 0.000 title abstract 4
- 238000000034 method Methods 0.000 title abstract 3
- 239000000203 mixture Substances 0.000 title abstract 2
- 101000641879 Homo sapiens Ras/Rap GTPase-activating protein SynGAP Proteins 0.000 abstract 4
- 102100033428 Ras/Rap GTPase-activating protein SynGAP Human genes 0.000 abstract 4
- 108020000948 Antisense Oligonucleotides Proteins 0.000 abstract 1
- 239000000074 antisense oligonucleotide Substances 0.000 abstract 1
- 238000012230 antisense oligonucleotides Methods 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
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- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
- C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
- C07K14/4702—Regulators; Modulating activity
- C07K14/4705—Regulators; Modulating activity stimulating, promoting or activating activity
- C07K14/4706—Guanosine triphosphatase activating protein, GAP
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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
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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
- A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
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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
- C12N15/111—General methods applicable to biologically active non-coding nucleic acids
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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
- C12N2310/10—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
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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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- 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
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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
- C12N2310/321—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
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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
- C12N2310/35—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
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- C12N2320/00—Applications; Uses
- C12N2320/30—Special therapeutic applications
- C12N2320/33—Alteration of splicing
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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
- C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
- C12N9/14—Hydrolases (3)
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Y—ENZYMES
- C12Y306/00—Hydrolases acting on acid anhydrides (3.6)
- C12Y306/05—Hydrolases acting on acid anhydrides (3.6) acting on GTP; involved in cellular and subcellular movement (3.6.5)
- C12Y306/05002—Small monomeric GTPase (3.6.5.2)
Landscapes
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Chemical & Material Sciences (AREA)
- Genetics & Genomics (AREA)
- Organic Chemistry (AREA)
- Biomedical Technology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Zoology (AREA)
- Molecular Biology (AREA)
- General Health & Medical Sciences (AREA)
- Wood Science & Technology (AREA)
- General Engineering & Computer Science (AREA)
- Biotechnology (AREA)
- Biochemistry (AREA)
- Medicinal Chemistry (AREA)
- Biophysics (AREA)
- Microbiology (AREA)
- Neurology (AREA)
- Neurosurgery (AREA)
- Plant Pathology (AREA)
- Physics & Mathematics (AREA)
- Toxicology (AREA)
- Pharmacology & Pharmacy (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Gastroenterology & Hepatology (AREA)
- Veterinary Medicine (AREA)
- Public Health (AREA)
- Animal Behavior & Ethology (AREA)
- Psychiatry (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- General Chemical & Material Sciences (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Hospice & Palliative Care (AREA)
- Epidemiology (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Enzymes And Modification Thereof (AREA)
Abstract
La presente divulgación se refiere en general a composiciones y métodos adecuados para tratar un trastorno asociado a mutaciones de pérdida de función en SYNGAP1. Más específicamente, la divulgación se refiere a métodos para tratar un trastorno asociado a mutaciones heterocigóticas de pérdida de función de SYNGAP1 y a oligonucleótidos antisentido específicos para SYNGAP1, y a su uso para tratar un trastorno asociado a mutaciones heterocigóticas de pérdida de función de SYNGAP1.
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
AU2020901507A AU2020901507A0 (en) | 2020-05-11 | Compositions and methods for treating disorders associated with loss-of-function mutations in SYNGAP1 | |
PCT/AU2021/050436 WO2021226663A1 (en) | 2020-05-11 | 2021-05-11 | Compositions and methods for treating disorders associated with loss-of-function mutations in syngap1 |
Publications (1)
Publication Number | Publication Date |
---|---|
MX2022014155A true MX2022014155A (es) | 2023-04-11 |
Family
ID=78525840
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2022014155A MX2022014155A (es) | 2020-05-11 | 2021-05-11 | Composiciones y metodos para tratar trastornos asociados a mutaciones de perdida de funcion en syngap1. |
Country Status (15)
Country | Link |
---|---|
US (1) | US20230174984A1 (es) |
EP (1) | EP4150094A1 (es) |
JP (1) | JP2023526060A (es) |
KR (1) | KR20230009965A (es) |
CN (1) | CN115916977A (es) |
AU (1) | AU2021272832A1 (es) |
BR (1) | BR112022022893A2 (es) |
CA (1) | CA3178334A1 (es) |
CL (1) | CL2022003145A1 (es) |
CO (1) | CO2022017705A2 (es) |
EC (1) | ECSP22093649A (es) |
IL (1) | IL298070A (es) |
MX (1) | MX2022014155A (es) |
PE (1) | PE20230739A1 (es) |
WO (1) | WO2021226663A1 (es) |
Families Citing this family (4)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2023073661A2 (en) * | 2021-11-01 | 2023-05-04 | Ionis Pharmaceuticals, Inc. | Compounds and methods for reducing psd3 expression |
WO2023163801A1 (en) * | 2022-02-24 | 2023-08-31 | Q-State Biosciences, Inc. | Therapeutics for syngap haploinsufficiency |
WO2023196847A2 (en) * | 2022-04-05 | 2023-10-12 | The Johns Hopkins University | Agents for modulating syngap1 splicing |
WO2024119145A1 (en) * | 2022-12-01 | 2024-06-06 | Camp4 Therapeutics Corporation | Modulation of syngap1 gene transcription using antisense oligonucleotides targeting regulatory rnas |
Family Cites Families (7)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US6083695A (en) * | 1996-04-15 | 2000-07-04 | The University Of Houston | Optimized primer library for gene sequencing and method of using same |
MX2010003299A (es) * | 2007-10-04 | 2010-04-14 | Santaris Pharma As | Oligonucleotidos muy cortos (micromirs). |
EP2364325A4 (en) * | 2008-11-07 | 2012-07-25 | Ct Hospitalier Universitaire Sainte Justine | SYNGAP1 DYSFUNCTIONS AND THEIR USE IN DIAGNOSTIC AND THERAPEUTIC APPLICATIONS FOR INTELLECTUAL SENTENCING |
WO2016201272A1 (en) * | 2015-06-12 | 2016-12-15 | King Abdulaziz City For Science And Technology | Method of diagnosing patients with conditions caused by mendelian mutations |
US11096956B2 (en) * | 2015-12-14 | 2021-08-24 | Stoke Therapeutics, Inc. | Antisense oligomers and uses thereof |
JP7049248B2 (ja) * | 2015-12-14 | 2022-04-06 | コールド スプリング ハーバー ラボラトリー | 常染色体優性精神遅滞-5とドラベ症候群の処置のためのアンチセンスオリゴマー |
CA3147970A1 (en) * | 2019-08-19 | 2021-02-25 | Isabel AZNAREZ | Compositions and methods for modulating splicing and protein expression |
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2021
- 2021-05-11 MX MX2022014155A patent/MX2022014155A/es unknown
- 2021-05-11 CA CA3178334A patent/CA3178334A1/en active Pending
- 2021-05-11 WO PCT/AU2021/050436 patent/WO2021226663A1/en active Application Filing
- 2021-05-11 AU AU2021272832A patent/AU2021272832A1/en active Pending
- 2021-05-11 US US17/924,255 patent/US20230174984A1/en active Pending
- 2021-05-11 KR KR1020227043422A patent/KR20230009965A/ko active Search and Examination
- 2021-05-11 CN CN202180049009.XA patent/CN115916977A/zh active Pending
- 2021-05-11 IL IL298070A patent/IL298070A/en unknown
- 2021-05-11 BR BR112022022893A patent/BR112022022893A2/pt unknown
- 2021-05-11 JP JP2022568833A patent/JP2023526060A/ja active Pending
- 2021-05-11 EP EP21804219.0A patent/EP4150094A1/en active Pending
- 2021-05-11 PE PE2022002642A patent/PE20230739A1/es unknown
-
2022
- 2022-11-11 CL CL2022003145A patent/CL2022003145A1/es unknown
- 2022-12-06 CO CONC2022/0017705A patent/CO2022017705A2/es unknown
- 2022-12-09 EC ECSENADI202293649A patent/ECSP22093649A/es unknown
Also Published As
Publication number | Publication date |
---|---|
IL298070A (en) | 2023-01-01 |
JP2023526060A (ja) | 2023-06-20 |
EP4150094A1 (en) | 2023-03-22 |
CO2022017705A2 (es) | 2023-02-16 |
PE20230739A1 (es) | 2023-05-03 |
US20230174984A1 (en) | 2023-06-08 |
AU2021272832A1 (en) | 2022-12-15 |
ECSP22093649A (es) | 2023-02-28 |
CA3178334A1 (en) | 2021-11-18 |
CL2022003145A1 (es) | 2023-06-30 |
WO2021226663A1 (en) | 2021-11-18 |
BR112022022893A2 (pt) | 2023-03-14 |
CN115916977A (zh) | 2023-04-04 |
KR20230009965A (ko) | 2023-01-17 |
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