CA3252501A1 - Adeno-associated virus therapy for the treatment of Pompe disease with long-term cessation of GAA enzymatic replacement therapy - Google Patents

Adeno-associated virus therapy for the treatment of Pompe disease with long-term cessation of GAA enzymatic replacement therapy

Info

Publication number
CA3252501A1
CA3252501A1 CA3252501A CA3252501A CA3252501A1 CA 3252501 A1 CA3252501 A1 CA 3252501A1 CA 3252501 A CA3252501 A CA 3252501A CA 3252501 A CA3252501 A CA 3252501A CA 3252501 A1 CA3252501 A1 CA 3252501A1
Authority
CA
Canada
Prior art keywords
gaa
administration
ert
aav
disclosed
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
CA3252501A
Other languages
English (en)
French (fr)
Inventor
Sam HOPKINS
Edward Clinton SMITH
Original Assignee
Duke University
AskBio 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 Duke University, AskBio Inc filed Critical Duke University
Publication of CA3252501A1 publication Critical patent/CA3252501A1/en
Pending legal-status Critical Current

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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
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46—Hydrolases (3)
    • A61K38/47—Hydrolases (3) acting on glycosyl compounds (3.2), e.g. cellulases, lactases
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • 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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/24—Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • C12N9/2405—Glucanases
    • C12N9/2408—Glucanases acting on alpha -1,4-glucosidic bonds
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y302/00—Hydrolases acting on glycosyl compounds, i.e. glycosylases (3.2)
    • C12Y302/01—Glycosidases, i.e. enzymes hydrolysing O- and S-glycosyl compounds (3.2.1)
    • C12Y302/0102—Alpha-glucosidase (3.2.1.20)
    • 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
    • A61K48/0083—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 administration regime
    • 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

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Biomedical Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Molecular Biology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Epidemiology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Plant Pathology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Diabetes (AREA)
  • Hematology (AREA)
  • Obesity (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
CA3252501A 2022-02-25 2023-02-23 Adeno-associated virus therapy for the treatment of Pompe disease with long-term cessation of GAA enzymatic replacement therapy Pending CA3252501A1 (en)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US202263314093P 2022-02-25 2022-02-25
US63/314,093 2022-02-25
US202263319034P 2022-03-11 2022-03-11
US63/319,034 2022-03-11
US202263340972P 2022-05-12 2022-05-12
US63/340,972 2022-05-12
PCT/US2023/013713 WO2023164060A2 (en) 2022-02-25 2023-02-23 Therapeutic adeno-associated virus for treating pompe disease with long term cessation of gaa enzyme replacement therapy

Publications (1)

Publication Number Publication Date
CA3252501A1 true CA3252501A1 (en) 2023-08-31

Family

ID=87766839

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3252501A Pending CA3252501A1 (en) 2022-02-25 2023-02-23 Adeno-associated virus therapy for the treatment of Pompe disease with long-term cessation of GAA enzymatic replacement therapy

Country Status (8)

Country Link
US (1) US20250163457A1 (https=)
EP (1) EP4482516A4 (https=)
JP (1) JP2025508841A (https=)
CN (1) CN119095612A (https=)
AU (1) AU2023224856A1 (https=)
CA (1) CA3252501A1 (https=)
TW (1) TW202342109A (https=)
WO (1) WO2023164060A2 (https=)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2025053118A1 (ja) * 2023-09-04 2025-03-13 アステラス製薬株式会社 短縮型ｃｍｖプロモーター配列、及び／又は短縮型ポリアデニル化配列を含む組換えアデノ随伴ウイルス
WO2025235807A1 (en) * 2024-05-10 2025-11-13 Solid Biosciences, Inc. Compositions and methods to improve graft survival

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2001269923A1 (en) * 2000-06-19 2002-01-02 Genzyme Corporation Combination enzyme replacement, gene therapy and small molecule therapy for lysosomal storage diseases
US8679478B2 (en) * 2010-10-04 2014-03-25 Duke University Methods of lysosomal storage disease therapy
EP3293259A1 (en) * 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
US20200063160A1 (en) * 2018-08-07 2020-02-27 Sangamo Therapeutics, Inc. Method for the treatment of mucopolysaccharidosis type ii
CN113423419A (zh) * 2019-01-04 2021-09-21 桑格摩生物治疗股份有限公司 用于治疗法布里病的方法和组合物
KR20220098384A (ko) * 2019-11-19 2022-07-12 아스클레피오스 바이오파마슈티컬, 인크. 폼페병 및 리소좀 장애를 치료하기 위한 간-특이적 프로모터를 포함하는 치료적 아데노-관련 바이러스
US20250213726A1 (en) * 2022-03-18 2025-07-03 Asklepios Biopharmaceutical, Inc. Therapeutic adeno-associated virus using codon optimized nucleic acid encoding alpha-glucosidase (gaa) for treating pompe disease, with signal peptide modifications

Also Published As

Publication number Publication date
US20250163457A1 (en) 2025-05-22
AU2023224856A1 (en) 2024-08-15
EP4482516A4 (en) 2026-03-25
JP2025508841A (ja) 2025-04-10
CN119095612A (zh) 2024-12-06
TW202342109A (zh) 2023-11-01
WO2023164060A3 (en) 2023-10-19
EP4482516A2 (en) 2025-01-01
WO2023164060A2 (en) 2023-08-31

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