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WO2026015039A1 - Thérapie génique pour le traitement de l'encéphalopathie épileptique associée à la syngap1 - Google Patents

Thérapie génique pour le traitement de l'encéphalopathie épileptique associée à la syngap1

Info

Publication number
WO2026015039A1
WO2026015039A1 PCT/PT2025/050016 PT2025050016W WO2026015039A1 WO 2026015039 A1 WO2026015039 A1 WO 2026015039A1 PT 2025050016 W PT2025050016 W PT 2025050016W WO 2026015039 A1 WO2026015039 A1 WO 2026015039A1
Authority
WO
WIPO (PCT)
Prior art keywords
aav
seq
sequence
polynucleotide
certain embodiments
Prior art date
Legal status (The legal status 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 status listed.)
Pending
Application number
PCT/PT2025/050016
Other languages
English (en)
Inventor
Smitha JAGADISH
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.)
Bial Portela and Cia SA
Original Assignee
Bial Portela and Cia SA
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 Bial Portela and Cia SA filed Critical Bial Portela and Cia SA
Publication of WO2026015039A1 publication Critical patent/WO2026015039A1/fr
Pending legal-status Critical Current
Anticipated expiration legal-status Critical

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
    • C12N15/63—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
    • 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
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • C12N2750/14143—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
    • 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
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal

Landscapes

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

Abstract

La présente divulgation concerne des vecteurs de virus adéno-associés recombinants (rAAV) qui comprennent une séquence de charge utile codant pour une protéine activatrice de la GTPase synaptique (SynGAP). La présente invention concerne également des méthodes de traitement de maladies associées à la SynGAP, y compris des troubles neurodéveloppementaux (NDD) tels que des encéphalopathies épileptiques (EDE).
PCT/PT2025/050016 2024-07-09 2025-07-08 Thérapie génique pour le traitement de l'encéphalopathie épileptique associée à la syngap1 Pending WO2026015039A1 (fr)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US202463669121P 2024-07-09 2024-07-09
US63/669,121 2024-07-09
US202563805013P 2025-05-13 2025-05-13
US63/805,013 2025-05-13

Publications (1)

Publication Number Publication Date
WO2026015039A1 true WO2026015039A1 (fr) 2026-01-15

Family

ID=96496509

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/PT2025/050016 Pending WO2026015039A1 (fr) 2024-07-09 2025-07-08 Thérapie génique pour le traitement de l'encéphalopathie épileptique associée à la syngap1

Country Status (1)

Country Link
WO (1) WO2026015039A1 (fr)

Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6399385B1 (en) 1999-09-29 2002-06-04 The Trustees Of The University Of Pennsylvania Methods for rapid PEG-modification of viral vectors, compositions for enhanced gene transduction, compositions with enhanced physical stability, and uses therefor
US20030053990A1 (en) 1998-11-10 2003-03-20 University Of North Carolina At Chapel Hill Virus vectors and methods of making and administering the same
US20050053922A1 (en) 2003-06-30 2005-03-10 Schaffer David V. Mutant adeno-associated virus virions and methods of use thereof
US20060051333A1 (en) 2003-06-19 2006-03-09 Arbetman Alejandra E AAV virions with decreased immunoreactivity and uses therefor
WO2018012497A1 (fr) * 2016-07-14 2018-01-18 国立大学法人名古屋大学 Modèle animal de maladie et agent thérapeutique de maladie
WO2023196841A2 (fr) * 2022-04-05 2023-10-12 The Johns Hopkins University Procédés et matériaux pour traiter des troubles neurodéveloppementaux associés à syngap1

Patent Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030053990A1 (en) 1998-11-10 2003-03-20 University Of North Carolina At Chapel Hill Virus vectors and methods of making and administering the same
US6399385B1 (en) 1999-09-29 2002-06-04 The Trustees Of The University Of Pennsylvania Methods for rapid PEG-modification of viral vectors, compositions for enhanced gene transduction, compositions with enhanced physical stability, and uses therefor
US20060051333A1 (en) 2003-06-19 2006-03-09 Arbetman Alejandra E AAV virions with decreased immunoreactivity and uses therefor
US20050053922A1 (en) 2003-06-30 2005-03-10 Schaffer David V. Mutant adeno-associated virus virions and methods of use thereof
WO2018012497A1 (fr) * 2016-07-14 2018-01-18 国立大学法人名古屋大学 Modèle animal de maladie et agent thérapeutique de maladie
WO2023196841A2 (fr) * 2022-04-05 2023-10-12 The Johns Hopkins University Procédés et matériaux pour traiter des troubles neurodéveloppementaux associés à syngap1

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
GRAGLIA J. MICHAEL ET AL: "Roadmap to advance therapeutics for SYNGAP1 -related disorder: a patient organization perspective from SynGAP Research Fund", THERAPEUTIC ADVANCES IN RARE DISEASE, vol. 6, 12 January 2025 (2025-01-12), XP093311652, ISSN: 2633-0040, Retrieved from the Internet <URL:https://journals.sagepub.com/doi/pdf/10.1177/26330040241308285> DOI: 10.1177/26330040241308285 *
JOSEPH S ANDERSON ET AL: "Hematopoietic stem cell gene therapy for the treatment of SYNGAP1-related non-specific intellectual disability", THE JOURNAL OF GENE MEDICINE, JOHN WILEY & SONS, INC, US, vol. 26, no. 7, 5 July 2024 (2024-07-05), pages n/a, XP072673662, ISSN: 1099-498X, DOI: 10.1002/JGM.3717 *
KILINC MURAT ET AL: "Endogenous Syngap1 alpha splice forms promote cognitive function and seizure protection", ELIFE, vol. 11, 8 April 2022 (2022-04-08), GB, XP093113405, ISSN: 2050-084X, Retrieved from the Internet <URL:https://cdn.elifesciences.org/articles/75707/elife-75707-v2.xml> DOI: 10.7554/eLife.75707 *

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