CA3128525A1 - Interneuron-specific therapeutics for normalizing neuronal cell excitability and treating dravet syndrome - Google Patents

Interneuron-specific therapeutics for normalizing neuronal cell excitability and treating dravet syndrome Download PDF

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Publication number
CA3128525A1
CA3128525A1 CA3128525A CA3128525A CA3128525A1 CA 3128525 A1 CA3128525 A1 CA 3128525A1 CA 3128525 A CA3128525 A CA 3128525A CA 3128525 A CA3128525 A CA 3128525A CA 3128525 A1 CA3128525 A1 CA 3128525A1
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Prior art keywords
vector
enhancer
viral
polynucleotide sequence
sequence
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CA3128525A
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English (en)
French (fr)
Inventor
Jordane DIMIDSCHSTEIN
Gordon FISHELL
Orrin Devinsky
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
New York University NYU
Broad Institute Inc
Harvard University
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New York University NYU
Broad Institute Inc
Harvard University
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Publication of CA3128525A1 publication Critical patent/CA3128525A1/en
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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
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86—Viral vectors
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K35/00—Medicinal preparations containing materials or reaction products thereof with undetermined constitution
    • A61K35/12—Materials from mammals; Compositions comprising non-specified tissues or cells; Compositions comprising non-embryonic stem cells; Genetically modified cells
    • A61K35/30—Nerves; Brain; Eyes; Corneal cells; Cerebrospinal fluid; Neuronal stem cells; Neuronal precursor cells; Glial cells; Oligodendrocytes; Schwann cells; Astroglia; Astrocytes; Choroid plexus; Spinal cord tissue
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    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • 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
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A61K48/0058—Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct
    • 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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    • 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
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    • 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
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    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
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    • C12N2750/00—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA ssDNA viruses
    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14123—Virus like particles [VLP]
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    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
    • C12N2750/14143—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2830/00—Vector systems having a special element relevant for transcription
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    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/008—Vector systems having a special element relevant for transcription cell type or tissue specific enhancer/promoter combination
    • 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
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/48—Vector systems having a special element relevant for transcription regulating transport or export of RNA, e.g. RRE, PRE, WPRE, CTE

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
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  • General Health & Medical Sciences (AREA)
  • Biomedical Technology (AREA)
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  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Biophysics (AREA)
  • Animal Behavior & Ethology (AREA)
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  • Plant Pathology (AREA)
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  • Physics & Mathematics (AREA)
  • Cell Biology (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Developmental Biology & Embryology (AREA)
  • Immunology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pain & Pain Management (AREA)
  • Ophthalmology & Optometry (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
CA3128525A 2019-02-05 2020-01-27 Interneuron-specific therapeutics for normalizing neuronal cell excitability and treating dravet syndrome Pending CA3128525A1 (en)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US201962801483P 2019-02-05 2019-02-05
US62/801,483 2019-02-05
US201962823281P 2019-03-25 2019-03-25
US62/823,281 2019-03-25
US201962916477P 2019-10-17 2019-10-17
US62/916,477 2019-10-17
PCT/US2020/015183 WO2020163102A1 (en) 2019-02-05 2020-01-27 Interneuron-specific therapeutics for normalizing neuronal cell excitability and treating dravet syndrome

Publications (1)

Publication Number Publication Date
CA3128525A1 true CA3128525A1 (en) 2020-08-13

Family

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CA3128525A Pending CA3128525A1 (en) 2019-02-05 2020-01-27 Interneuron-specific therapeutics for normalizing neuronal cell excitability and treating dravet syndrome

Country Status (9)

Country Link
US (1) US20220195457A1 (https=)
EP (1) EP3921326A4 (https=)
JP (2) JP7724157B2 (https=)
KR (1) KR20210133227A (https=)
CN (1) CN113966400A (https=)
CA (1) CA3128525A1 (https=)
IL (1) IL284909A (https=)
SG (1) SG11202107813RA (https=)
WO (1) WO2020163102A1 (https=)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115707773A (zh) * 2021-08-20 2023-02-21 中国科学院深圳先进技术研究院 一种利用交感神经控制血管内皮细胞异质性的方法
US12054486B2 (en) 2021-09-24 2024-08-06 Xenon Pharmaceuticals Inc. Pyridine derivatives and their use as sodium channel activators
WO2023108401A1 (zh) * 2021-12-14 2023-06-22 深圳先进技术研究院 重组载体及其构建方法和应用
JP2024545923A (ja) 2021-12-30 2024-12-13 リーゲル セラピューティクス，インコーポレイティッド ナトリウム電位依存性チャネルアルファサブユニット１の発現を調節するための組成物、及びその使用
GB2621102A (en) * 2022-04-11 2024-02-07 Univ Ramot Treatment and Reversion of Dravet syndrome by CAV-2-Mediated Delivery of an SCN1A Expression Cassette
WO2023200700A2 (en) * 2022-04-11 2023-10-19 The Broad Institute, Inc. Enhancers for directed expression of genes in neuronal cell populations, compositions and methods thereof
CN116024222B (zh) * 2022-11-30 2023-12-22 湖南家辉生物技术有限公司 一种导致婴儿严重肌阵挛性癫痫的nac1基因突变体及其应用

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN101255424B (zh) * 2007-11-26 2013-02-27 广州医学院第二附属医院 与癫痫相关scn1a基因的启动子及其构建方法和临床应用
EP2635111B1 (en) * 2010-11-05 2018-05-23 The Board of Trustees of the Leland Stanford Junior University Stabilized step function opsin proteins and methods of using the same
US10682424B2 (en) * 2015-03-31 2020-06-16 New York University Compositions and method for reducing seizures
MX2019011772A (es) * 2017-04-03 2020-01-09 Encoded Therapeutics Inc Expresion transgenica selectiva de tejidos.

Also Published As

Publication number Publication date
JP2025118768A (ja) 2025-08-13
EP3921326A4 (en) 2022-12-14
US20220195457A1 (en) 2022-06-23
IL284909A (en) 2021-09-30
SG11202107813RA (en) 2021-08-30
EP3921326A1 (en) 2021-12-15
JP2022519623A (ja) 2022-03-24
CN113966400A (zh) 2022-01-21
JP7724157B2 (ja) 2025-08-15
KR20210133227A (ko) 2021-11-05
WO2020163102A1 (en) 2020-08-13

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