PE20231567A1 - Compuestos y metodos para modular el scn2a - Google Patents

Compuestos y metodos para modular el scn2a

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Publication number
PE20231567A1
PE20231567A1 PE2023000224A PE2023000224A PE20231567A1 PE 20231567 A1 PE20231567 A1 PE 20231567A1 PE 2023000224 A PE2023000224 A PE 2023000224A PE 2023000224 A PE2023000224 A PE 2023000224A PE 20231567 A1 PE20231567 A1 PE 20231567A1
Authority
PE
Peru
Prior art keywords
dysfunctions
compounds
scn2a
methods
delays
Prior art date
Application number
PE2023000224A
Other languages
English (en)
Inventor
Paymaan Jafar-Nejad
Huynh-Hoa Bui
Susan M Freier
Frank Rigo
Original Assignee
Ionis Pharmaceuticals Inc
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
Application filed by Ionis Pharmaceuticals Inc filed Critical Ionis Pharmaceuticals Inc
Publication of PE20231567A1 publication Critical patent/PE20231567A1/es

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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
    • C—CHEMISTRY; METALLURGY
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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
    • 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
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • 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
    • 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
    • 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
    • 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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    • 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
    • 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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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/33—Chemical structure of the base
    • C12N2310/334—Modified C
    • C12N2310/3341—5-Methylcytosine
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/30—Chemical structure
    • C12N2310/34—Spatial arrangement of the modifications
    • C12N2310/341—Gapmers, i.e. of the type ===---===
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    • C12N2310/30—Chemical 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
    • C12N2310/3525—MOE, methoxyethoxy

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Chemical & Material Sciences (AREA)
  • Biomedical Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Medicinal Chemistry (AREA)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Epidemiology (AREA)
  • Pain & Pain Management (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Acyclic And Carbocyclic Compounds In Medicinal Compositions (AREA)
  • Saccharide Compounds (AREA)
  • Liquid Crystal Substances (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

Se proporcionan compuestos, metodos y composiciones farmaceuticas para reducir la cantidad o actividad del ARN de SCN2A en una celula o sujeto y en determinados casos reducir la cantidad de proteina de SCN2A en una celula o sujeto. Tales compuestos, metodos y composiciones farmaceuticas son utiles para mejorar al menos un sintoma o caracteristica de una enfermedad o trastorno asociado con una proteina de canal de sodio dependiente del voltaje, tal como, por ejemplo, una encefalopatia epileptica y del desarrollo, una discapacidad intelectual, o un trastorno del espectro autista. Tales sintomas y caracteristicas incluyen, entre otros, convulsiones, hipotonia, trastornos de integracion sensorial, retrasos y disfunciones del desarrollo motor, disfunciones intelectuales y cognitivas, disfunciones del movimiento y del equilibrio, disfunciones visuales, retraso del habla y el lenguaje, trastornos gastrointestinales, retrasos del neurodesarrollo, problemas del sueno y muerte inesperada repentina en pacientes con epilepsia
PE2023000224A 2020-08-07 2021-08-06 Compuestos y metodos para modular el scn2a PE20231567A1 (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US202063063120P 2020-08-07 2020-08-07
PCT/US2021/044887 WO2022032060A2 (en) 2020-08-07 2021-08-06 Compounds and methods for modulating scn2a

Publications (1)

Publication Number Publication Date
PE20231567A1 true PE20231567A1 (es) 2023-10-04

Family

ID=80118566

Family Applications (1)

Application Number Title Priority Date Filing Date
PE2023000224A PE20231567A1 (es) 2020-08-07 2021-08-06 Compuestos y metodos para modular el scn2a

Country Status (16)

Country Link
US (2) US20240026353A1 (es)
EP (1) EP4192476A2 (es)
JP (1) JP2023536994A (es)
KR (1) KR20230048052A (es)
CN (1) CN116322707A (es)
AU (1) AU2021320384A1 (es)
BR (1) BR112023002034A2 (es)
CA (1) CA3186935A1 (es)
CL (1) CL2023000393A1 (es)
CO (1) CO2023002128A2 (es)
EC (1) ECSP23008455A (es)
IL (1) IL300258A (es)
MX (1) MX2023001486A (es)
PE (1) PE20231567A1 (es)
TW (1) TW202221123A (es)
WO (1) WO2022032060A2 (es)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2023192885A2 (en) * 2022-03-28 2023-10-05 Praxis Precision Medicines, Inc. Methods of using oligomeric compounds to treat scn2a-related disorders

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11446398B2 (en) * 2016-04-11 2022-09-20 Obsidian Therapeutics, Inc. Regulated biocircuit systems
EP3700570A4 (en) * 2017-10-23 2021-08-04 Stoke Therapeutics, Inc. ANTISENSE OLIGOMERS FOR THE TREATMENT OF CONDITIONS AND DISEASES BASED ON THE DECLINE OF NON-SENSE MEDIATION RNA
US11713463B2 (en) * 2018-01-17 2023-08-01 The Florey Institute Of Neuroscience And Mental Health Compositions and methods for increasing expression of SCN2A
US11939582B2 (en) * 2018-08-20 2024-03-26 Rogcon, Inc. Antisense oligonucleotides targeting SCN2A for the treatment of SCN1A encephalopathies

Also Published As

Publication number Publication date
AU2021320384A1 (en) 2023-02-16
CN116322707A (zh) 2023-06-23
US20240102012A1 (en) 2024-03-28
EP4192476A2 (en) 2023-06-14
KR20230048052A (ko) 2023-04-10
CA3186935A1 (en) 2022-02-10
IL300258A (en) 2023-03-01
JP2023536994A (ja) 2023-08-30
ECSP23008455A (es) 2023-05-31
US20240026353A1 (en) 2024-01-25
WO2022032060A3 (en) 2022-03-17
CO2023002128A2 (es) 2023-03-07
WO2022032060A2 (en) 2022-02-10
MX2023001486A (es) 2023-03-27
CL2023000393A1 (es) 2023-09-15
TW202221123A (zh) 2022-06-01
BR112023002034A2 (pt) 2023-04-04

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