ECSP22093649A - Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1 - Google Patents

Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1

Info

Publication number
ECSP22093649A
ECSP22093649A ECSENADI202293649A ECDI202293649A ECSP22093649A EC SP22093649 A ECSP22093649 A EC SP22093649A EC SENADI202293649 A ECSENADI202293649 A EC SENADI202293649A EC DI202293649 A ECDI202293649 A EC DI202293649A EC SP22093649 A ECSP22093649 A EC SP22093649A
Authority
EC
Ecuador
Prior art keywords
syngap1
loss
function mutations
methods
compositions
Prior art date
Application number
ECSENADI202293649A
Other languages
English (en)
Inventor
Steven Petrou
Original Assignee
The Florey Inst Of Neuroscience And Mental Health
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Priority claimed from AU2020901507A external-priority patent/AU2020901507A0/en
Application filed by The Florey Inst Of Neuroscience And Mental Health filed Critical The Florey Inst Of Neuroscience And Mental Health
Publication of ECSP22093649A publication Critical patent/ECSP22093649A/es

Links

Classifications

    • 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
    • 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
    • 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
    • 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
    • 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
    • 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)
    • 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
    • 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
    • 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
    • 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
    • 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
    • C12N2310/35—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
    • 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
    • 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.
ECSENADI202293649A 2020-05-11 2022-12-09 Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1 ECSP22093649A (es)

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
ECSP22093649A true ECSP22093649A (es) 2023-02-28

Family

ID=78525840

Family Applications (1)

Application Number Title Priority Date Filing Date
ECSENADI202293649A ECSP22093649A (es) 2020-05-11 2022-12-09 Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1

Country Status (15)

Country Link
US (1) US20230174984A1 (es)
EP (1) EP4150094A4 (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 (3) 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)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
MX2024005273A (es) * 2021-11-01 2024-07-10 Ionis Pharmaceuticals Inc Compuestos y metodos para reducir la expresion de psd3.
WO2023163801A1 (en) * 2022-02-24 2023-08-31 Q-State Biosciences, Inc. Therapeutics for syngap haploinsufficiency
EP4504942A2 (en) * 2022-04-05 2025-02-12 The Johns Hopkins University Agents for modulating syngap1 splicing
EP4627084A1 (en) * 2022-12-01 2025-10-08 Camp4 Therapeutics Corporation Modulation of syngap1 gene transcription using antisense oligonucleotides targeting regulatory rnas

Family Cites Families (10)

* Cited by examiner, † Cited by third party
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
EP2623599B1 (en) * 2007-10-04 2019-01-02 Roche Innovation Center Copenhagen A/S 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
CN102482677B (zh) * 2009-03-16 2017-10-17 库尔纳公司 通过抑制nrf2的天然反义转录物治疗核因子(红细胞衍生2)‑样2(nrf2)相关疾病
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
WO2017106377A1 (en) * 2015-12-14 2017-06-22 Cold Spring Harbor Laboratory Antisense oligomers for treatment of autosomal dominant mental retardation-5 and dravet syndrome
US11096956B2 (en) * 2015-12-14 2021-08-24 Stoke Therapeutics, Inc. Antisense oligomers and uses thereof
WO2018217975A1 (en) * 2017-05-24 2018-11-29 The Regents Of The University Of California Antisense therapies for treating cancer
HUE070436T2 (hu) * 2017-10-23 2025-06-28 Stoke Therapeutics Inc Antiszensz oligomerek nonszensz-mediált RNS-lebomláson alapuló állapotok és betegségek kezelésére
EP4017979A4 (en) * 2019-08-19 2024-03-27 Stoke Therapeutics, Inc. COMPOSITIONS AND METHODS FOR MODULATING PROTEIN SPLICING AND EXPRESSION

Also Published As

Publication number Publication date
CL2022003145A1 (es) 2023-06-30
WO2021226663A1 (en) 2021-11-18
PE20230739A1 (es) 2023-05-03
JP2023526060A (ja) 2023-06-20
EP4150094A1 (en) 2023-03-22
BR112022022893A2 (pt) 2023-03-14
CO2022017705A2 (es) 2023-02-16
CL2025001270A1 (es) 2025-08-08
US20230174984A1 (en) 2023-06-08
IL298070A (en) 2023-01-01
EP4150094A4 (en) 2024-10-09
MX2022014155A (es) 2023-04-11
CA3178334A1 (en) 2021-11-18
KR20230009965A (ko) 2023-01-17
AU2021272832A1 (en) 2022-12-15
CL2025001268A1 (es) 2025-08-08
CN115916977A (zh) 2023-04-04

Similar Documents

Publication Publication Date Title
ECSP22093649A (es) Composiciones y métodos para tratar trastornos asociados a mutaciones de pérdida de función en syngap1
MX2025007610A (es) Composiciones de arni de 17beta-hidroxiesteroide deshidrogenasa tipo 13 (hsd17b13) y metodos de uso de las mismas
BR112022011214A2 (pt) Rnas-guia modificados para edição de gene
ES2422605T3 (es) Anticuerpo contra klotho-beta para utilizar en el tratamiento de tumores, cáncer o trastornos proliferativos celulares
MX2017016088A (es) Oligonucleotidos multi-conjugados definidos.
BR112018006636A2 (pt) composições de oligonucleotídeo e métodos destas
CO2018003168A2 (es) Moduladores de la expresión de kras
CO2021018034A2 (es) Oligonucleótidos gapmer modificados y métodos de uso
MX388380B (es) Composiciones para usarse en el incremento de los niveles de glóbulos rojos y el tratamiento de enfermedad de células falciformes.
BR112014028017A2 (pt) composto, composição farmacêutica, método para tratar um distúrbio, método para reduzir a quantidade il-17 em um indivíduo e método para inibir a atividade de ror
SG10201809290SA (en) Compositions and Methods to Treating Hemoglobinopathies
MX382337B (es) Terapia génica de globina y uso de la misma para el tratamiento de hemoglobinopatias.
MX374896B (es) Compuestos con actividad anticáncer.
EA202090031A2 (ru) Человеческие антитела против gfr3 и способы их применения
CL2024001319A1 (es) Composiciones de arni del factor b del complemento (cfb) y métodos de uso
DE60329990D1 (de) Mitotische kinesin-hemmer
BR112018071023A2 (pt) combinações para o tratamento de neoplasmas utilizando o direcionamento de células inativas e inibidores da mitose
BR112015029386A2 (pt) uso de eribulina e lenvatinibe como terapia de combinação para tratamento de câncer
MX2021006463A (es) Metodos para el tratamiento de trastornos de expansion repetida de trinucleotidos asociados con actividad msh3.
BR112018071031A2 (pt) combinações para o tratamento de neoplasmas utilizando o direcionamento de células-alvo inativas e inibidores de egfr
EP4279127A3 (en) Growth differentiation factor 15 as biomarker for metformin
BR112014000634A2 (pt) métodos para tratamento de incontinência associada com atividade sexual
WO2020227395A3 (en) Anti-c9orf72 oligonucleotides and related methods
EA201792406A1 (ru) Антисмысловые олигонуклеотиды для лечения дистрофического буллезного эпидермолиза
MX2022007094A (es) Compuestos para tratar la disautonomía familiar.