AU2021356684A1 - Compositions and methods for treatment of fabry disease - Google Patents

Compositions and methods for treatment of fabry disease Download PDF

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Publication number
AU2021356684A1
AU2021356684A1 AU2021356684A AU2021356684A AU2021356684A1 AU 2021356684 A1 AU2021356684 A1 AU 2021356684A1 AU 2021356684 A AU2021356684 A AU 2021356684A AU 2021356684 A AU2021356684 A AU 2021356684A AU 2021356684 A1 AU2021356684 A1 AU 2021356684A1
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AU
Australia
Prior art keywords
hgla
seq
sequence
aavhu68
mice
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Abandoned
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AU2021356684A
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English (en)
Inventor
Juliette HORDEAUX
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University of Pennsylvania
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University of Pennsylvania
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Publication of AU2021356684A1 publication Critical patent/AU2021356684A1/en
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    • 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)
    • C12N9/2465—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1) acting on alpha-galactose-glycoside bonds, e.g. alpha-galactosidase (3.2.1.22)
    • 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
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • 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
    • 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)
    • C12Y302/01022—Alpha-galactosidase (3.2.1.22)
    • 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
    • C12N2830/48—Vector systems having a special element relevant for transcription regulating transport or export of RNA, e.g. RRE, PRE, WPRE, CTE
    • 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

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  • 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)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Biomedical Technology (AREA)
  • Biochemistry (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Physics & Mathematics (AREA)
  • General Chemical & Material Sciences (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Virology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (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)
  • Enzymes And Modification Thereof (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
AU2021356684A 2020-10-09 2021-10-08 Compositions and methods for treatment of fabry disease Abandoned AU2021356684A1 (en)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US202063089850P 2020-10-09 2020-10-09
US63/089,850 2020-10-09
US202163146286P 2021-02-05 2021-02-05
US63/146,286 2021-02-05
US202163186092P 2021-05-08 2021-05-08
US63/186,092 2021-05-08
PCT/US2021/054145 WO2022076803A1 (en) 2020-10-09 2021-10-08 Compositions and methods for treatment of fabry disease

Publications (1)

Publication Number Publication Date
AU2021356684A1 true AU2021356684A1 (en) 2023-05-11

Family

ID=81125461

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2021356684A Abandoned AU2021356684A1 (en) 2020-10-09 2021-10-08 Compositions and methods for treatment of fabry disease

Country Status (8)

Country Link
US (1) US20230365955A1 (enExample)
EP (1) EP4225906A1 (enExample)
JP (1) JP2023545433A (enExample)
KR (1) KR20230118075A (enExample)
AU (1) AU2021356684A1 (enExample)
CA (1) CA3193833A1 (enExample)
TW (1) TW202229560A (enExample)
WO (1) WO2022076803A1 (enExample)

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AR124981A1 (es) * 2021-02-26 2023-05-24 Takeda Pharmaceuticals Co Composición y métodos para el tratamiento de la enfermedad de fabry
US20240408157A1 (en) * 2021-12-02 2024-12-12 The Trustees Of The University Of Pennsylvania Compositions and methods for treatment of fabry disease
CA3261151A1 (en) * 2022-07-08 2024-01-11 Cornell University PHARMACEUTICAL METHODS AND COMPOSITIONS FOR THE TREATMENT AND PREVENTION OF ALZHEIMER'S DISEASE
KR20250052387A (ko) * 2022-08-25 2025-04-18 다케다 야쿠힌 고교 가부시키가이샤 파브리병의 치료에서의 사용을 위한 조성물
EP4634394A2 (en) 2022-12-17 2025-10-22 The Trustees of The University of Pennsylvania Recombinant aav mutant vectors with cardiac and skeletal muscle-specific targeting motifs and compositions containing same
WO2025007046A1 (en) 2023-06-29 2025-01-02 The Trustees Of The University Of Pennsylvania Mutant aav with central nervous system targeting motifs and compositions containing same
KR20260114566A (ko) 2023-11-14 2026-07-22 더 트러스티스 오브 더 유니버시티 오브 펜실베니아 심근 및 골격근-특이적 표적화 모티프를 갖는 조성물 및 이의 용도

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EP1668143B1 (en) 2003-09-30 2013-03-20 The Trustees of The University of Pennsylvania Adeno-associated virus (aav) clades, sequences, vectors containing same, and uses therefor
DE23193606T1 (de) 2005-04-07 2024-02-15 The Trustees Of The University Of Pennsylvania Verfahren zur erhöhung der funktion eines aav-vektors
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JP5868319B2 (ja) 2009-09-03 2016-02-24 エボニック レーム ゲゼルシャフト ミット ベシュレンクテル ハフツングＥｖｏｎｉｋ Ｒｏｅｈｍ ＧｍｂＨ １つ以上の生物学的活性物質、調合補助物質および磁化可能粒子を包含する経口剤形
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Also Published As

Publication number Publication date
KR20230118075A (ko) 2023-08-10
WO2022076803A1 (en) 2022-04-14
EP4225906A1 (en) 2023-08-16
CA3193833A1 (en) 2022-04-14
TW202229560A (zh) 2022-08-01
JP2023545433A (ja) 2023-10-30
US20230365955A1 (en) 2023-11-16
WO2022076803A8 (en) 2022-06-09

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