CL2025002970A1 - Composiciones y métodos para el tratamiento de trastornos relacionados con la deficiencia de cdkl5 - Google Patents

Composiciones y métodos para el tratamiento de trastornos relacionados con la deficiencia de cdkl5

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Publication number
CL2025002970A1
CL2025002970A1 CL2025002970A CL2025002970A CL2025002970A1 CL 2025002970 A1 CL2025002970 A1 CL 2025002970A1 CL 2025002970 A CL2025002970 A CL 2025002970A CL 2025002970 A CL2025002970 A CL 2025002970A CL 2025002970 A1 CL2025002970 A1 CL 2025002970A1
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CL
Chile
Prior art keywords
compositions
methods
cdkl5
amino acid
aav
Prior art date
Application number
CL2025002970A
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English (en)
Inventor
Emmanuel Nonnenmacher Mathieu
Christopher Moyer Tyler
Li Jiangyu
Richard Laks Dan
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Voyager Therapeutics Inc
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Publication date
Application filed by Voyager Therapeutics Inc filed Critical Voyager Therapeutics Inc
Publication of CL2025002970A1 publication Critical patent/CL2025002970A1/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
    • C12N15/63—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
    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/005—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from viruses
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/10—Transferases (2.)
    • C12N9/12—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y207/00—Transferases transferring phosphorus-containing groups (2.7)
    • C12Y207/11—Protein-serine/threonine kinases (2.7.11)
    • C12Y207/11022—Cyclin-dependent kinase (2.7.11.22)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • C12N2750/14122—New viral proteins or individual genes, new structural or functional aspects of known viral proteins or genes
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • C12N2750/14141—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
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • 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
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
    • C12N2750/14145—Special targeting system for viral vectors

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
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  • Biochemistry (AREA)
  • Biomedical Technology (AREA)
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  • General Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Biophysics (AREA)
  • Virology (AREA)
  • Microbiology (AREA)
  • Plant Pathology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Physics & Mathematics (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Neurosurgery (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurology (AREA)
  • Epidemiology (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

Composiciones y métodos para alterar, por ejemplo, aumentar, la expresión de la proteína CDKL5 mediante la administración mediante el uso de una variante de cápside viral adenoasociada (AAV) Las composiciones y métodos son útiles para tratar sujetos a los que se les haya diagnosticado, o se sospeche que padezcan CDD, u otro trastorno relacionado con CDKL5. Una partícula de virus adenoasociado (AAV)que comprende: a) una variante de la cápside de AAV que comprende una secuencia de aminoácidos que tiene la siguiente fórmula: (N1)-(N2)-(N3), en donde: (i) opcionalmente, (N1) comprende X1, X2 y X3, en donde al menos uno de X1, X2 o X3 es G;(ii) (N2) comprende la secuencia de aminoácidos de SPH; y (iii) (N3) comprende X4, X5 y X6, en donde al menos uno de X4, X5 o X6 es un aminoácido básico; y b) un genoma viral que comprende una secuencia que codifica la quinasa dependiente de ciclina 5 (CDKL5).
CL2025002970A 2023-05-03 2025-10-01 Composiciones y métodos para el tratamiento de trastornos relacionados con la deficiencia de cdkl5 CL2025002970A1 (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202363499933P 2023-05-03 2023-05-03
US202363593830P 2023-10-27 2023-10-27
US202463564457P 2024-03-12 2024-03-12

Publications (1)

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CL2025002970A1 true CL2025002970A1 (es) 2026-01-30

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CL2025002970A CL2025002970A1 (es) 2023-05-03 2025-10-01 Composiciones y métodos para el tratamiento de trastornos relacionados con la deficiencia de cdkl5

Country Status (12)

Country Link
EP (1) EP4705317A1 (es)
JP (1) JP2026515815A (es)
KR (1) KR20260021096A (es)
CN (1) CN121079310A (es)
AU (1) AU2024265504A1 (es)
CL (1) CL2025002970A1 (es)
CO (1) CO2025015902A2 (es)
IL (1) IL324039A (es)
MX (1) MX2025012629A (es)
PE (1) PE20260124A1 (es)
TW (1) TW202509227A (es)
WO (1) WO2024229163A1 (es)

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CN113166208B (zh) 2018-10-02 2024-11-22 沃雅戈治疗公司 重新定向aav衣壳的嗜性
US12630842B2 (en) 2020-05-13 2026-05-19 Voyager Therapeutics, Inc. Redirection of tropism of AAV capsids
EP4426716A1 (en) 2021-11-02 2024-09-11 Voyager Therapeutics, Inc. Aav capsid variants and uses thereof
WO2026096600A1 (en) * 2024-10-30 2026-05-07 Neurocrine Biosciences, Inc. Compositions and methods for delivering cyclin-dependent kinase-like 5 protein

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JP2026515815A (ja) 2026-05-19
WO2024229163A1 (en) 2024-11-07
IL324039A (en) 2025-12-01
AU2024265504A9 (en) 2025-12-18
MX2025012629A (es) 2025-11-03
AU2024265504A1 (en) 2025-12-11
EP4705317A1 (en) 2026-03-11
WO2024229163A9 (en) 2025-02-27
CO2025015902A2 (es) 2025-11-28
KR20260021096A (ko) 2026-02-12
CN121079310A (zh) 2025-12-05
PE20260124A1 (es) 2026-01-16
TW202509227A (zh) 2025-03-01

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