CL2020001344A1 - Tratamiento antisentido del síndrome de angelman. - Google Patents

Tratamiento antisentido del síndrome de angelman.

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Publication number
CL2020001344A1
CL2020001344A1 CL2020001344A CL2020001344A CL2020001344A1 CL 2020001344 A1 CL2020001344 A1 CL 2020001344A1 CL 2020001344 A CL2020001344 A CL 2020001344A CL 2020001344 A CL2020001344 A CL 2020001344A CL 2020001344 A1 CL2020001344 A1 CL 2020001344A1
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CL
Chile
Prior art keywords
ube3a
angelman syndrome
antisense treatment
treatment
oligonucleotides
Prior art date
Application number
CL2020001344A
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English (en)
Inventor
Scott Victor Dindot
Original Assignee
Texas A & M Univ Sys
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Publication date
Application filed by Texas A & M Univ Sys filed Critical Texas A & M Univ Sys
Publication of CL2020001344A1 publication Critical patent/CL2020001344A1/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
    • 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
    • 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
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    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/02—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with ribosyl as saccharide radical
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
    • C07H21/04—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids with deoxyribosyl as saccharide radical
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • 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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    • C12N2310/00—Structure or type of the nucleic acid
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    • C12N2310/315—Phosphorothioates
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    • C12N2310/00—Structure or type of the nucleic acid
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    • C12N2310/32—Chemical structure of the sugar
    • C12N2310/323—Chemical structure of the sugar modified ring structure
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    • C12N2310/35—Nature of the modification
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    • C12N2320/00—Applications; Uses
    • C12N2320/30—Special therapeutic applications

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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Biochemistry (AREA)
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  • Biomedical Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Veterinary Medicine (AREA)
  • Medicinal Chemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Epidemiology (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

En la presente descripción se describen oligonucleótidos antisentido que son capaces de inducir la expresión de la proteína ubiquitina ligasa E3A (UBE3A) a partir del alelo paterno en neuronas animales o humanas. Los oligonucleótidos se dirigen al supresor del alelo paterno de UBE3A por hibridación al ARN no codificante largo de SNHG14 en el extremo 5' de UBE3A-AS, que está aguas abajo del ARNpn SNORD115-45. Además, se describen composiciones farmacéuticas y métodos para el tratamiento del síndrome de Angelman.
CL2020001344A 2017-12-01 2020-05-20 Tratamiento antisentido del síndrome de angelman. CL2020001344A1 (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201762593431P 2017-12-01 2017-12-01
US201862676034P 2018-05-24 2018-05-24

Publications (1)

Publication Number Publication Date
CL2020001344A1 true CL2020001344A1 (es) 2020-09-21

Family

ID=66664231

Family Applications (1)

Application Number Title Priority Date Filing Date
CL2020001344A CL2020001344A1 (es) 2017-12-01 2020-05-20 Tratamiento antisentido del síndrome de angelman.

Country Status (16)

Country Link
US (4) US11198869B2 (es)
EP (2) EP3717646A4 (es)
JP (2) JP7297320B2 (es)
KR (1) KR20200094152A (es)
CN (1) CN111433361B (es)
AU (1) AU2018375807A1 (es)
BR (1) BR112020009431A2 (es)
CA (1) CA3079755A1 (es)
CL (1) CL2020001344A1 (es)
CO (1) CO2020006361A2 (es)
IL (1) IL274146A (es)
MX (1) MX2020005680A (es)
PE (1) PE20211238A1 (es)
RU (1) RU2020121752A (es)
SG (1) SG11202003596WA (es)
WO (1) WO2019109001A1 (es)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
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BR112018007633A2 (pt) 2015-11-12 2018-11-06 F. Hoffmann-La Roche Ag oligonucleotídeos para indução de expressão de ube3a paterna
KR20210144822A (ko) 2019-03-29 2021-11-30 아이오니스 파마수티컬즈, 인코포레이티드 Ube3a-ats를 조절하기 위한 화합물 및 방법
CA3197664A1 (en) * 2020-10-06 2022-04-14 University Of Maryland, Baltimore Rapid diagnostic electrochemical biosensing targeted with antisense oligonucleotides
US20230332150A1 (en) * 2022-03-07 2023-10-19 University Of Connecticut shRNA TARGETING SNORD115 LOCATIONS TO RESTORE PATERNAL UBE3A GENE EXPRESSION IN ANGELMAN SYNDROME

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WO2019109001A1 (en) 2019-06-06
EP4328306A2 (en) 2024-02-28
CN111433361A (zh) 2020-07-17
CA3079755A1 (en) 2019-06-06
AU2018375807A1 (en) 2020-05-07
US11739328B2 (en) 2023-08-29
CO2020006361A2 (es) 2020-08-10
US20230112629A1 (en) 2023-04-13
US11198869B2 (en) 2021-12-14
IL274146A (en) 2020-06-30
PE20211238A1 (es) 2021-07-09
MX2020005680A (es) 2020-08-20
JP2021505129A (ja) 2021-02-18
KR20200094152A (ko) 2020-08-06
JP7297320B2 (ja) 2023-06-26
EP3717646A1 (en) 2020-10-07
US11685920B2 (en) 2023-06-27
CN111433361B (zh) 2024-03-29
JP2023123517A (ja) 2023-09-05
US20230332152A1 (en) 2023-10-19
US20220090075A1 (en) 2022-03-24
EP3717646A4 (en) 2021-12-01
BR112020009431A2 (pt) 2020-10-13
RU2020121752A (ru) 2021-12-30
SG11202003596WA (en) 2020-05-28
US20200370046A1 (en) 2020-11-26

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