CL2019000609A1 - Variantes de alfa-glucosidasa ácida y usos de las mismas. - Google Patents

Variantes de alfa-glucosidasa ácida y usos de las mismas.

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Publication number
CL2019000609A1
CL2019000609A1 CL2019000609A CL2019000609A CL2019000609A1 CL 2019000609 A1 CL2019000609 A1 CL 2019000609A1 CL 2019000609 A CL2019000609 A CL 2019000609A CL 2019000609 A CL2019000609 A CL 2019000609A CL 2019000609 A1 CL2019000609 A1 CL 2019000609A1
Authority
CL
Chile
Prior art keywords
variants
glucosidase
acid alpha
acid
alpha
Prior art date
Application number
CL2019000609A
Other languages
English (en)
Inventor
Federico Mingozzi
Giuseppe Ronzitti
Original Assignee
Genethon
Inst Nat Sante Rech Med
Univ Devry Val Dessonne
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
Priority claimed from EP16306150.0A external-priority patent/EP3293260A1/en
Application filed by Genethon, Inst Nat Sante Rech Med, Univ Devry Val Dessonne filed Critical Genethon
Publication of CL2019000609A1 publication Critical patent/CL2019000609A1/es

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    • C—CHEMISTRY; METALLURGY
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    • 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
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    • 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)
    • 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
    • A61K35/34—Muscles; Smooth muscle cells; Heart; Cardiac stem cells; Myoblasts; Myocytes; Cardiomyocytes
    • 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
    • A61K35/37—Digestive system
    • A61K35/407—Liver; Hepatocytes
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • 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
    • A61P21/00—Drugs for disorders of the muscular or neuromuscular system
    • 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
    • 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
    • A61P3/08—Drugs for disorders of the metabolism for glucose homeostasis
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N5/00—Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
    • C12N5/06—Animal cells or tissues; Human cells or tissues
    • C12N5/0602—Vertebrate cells
    • C12N5/0652—Cells of skeletal and connective tissues; Mesenchyme
    • C12N5/0658—Skeletal muscle cells, e.g. myocytes, myotubes, myoblasts
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N5/00—Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
    • C12N5/06—Animal cells or tissues; Human cells or tissues
    • C12N5/0602—Vertebrate cells
    • C12N5/067—Hepatocytes
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    • 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)
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/01—Fusion polypeptide containing a localisation/targetting motif
    • C07K2319/02—Fusion polypeptide containing a localisation/targetting motif containing a signal sequence
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/01—Fusion polypeptide containing a localisation/targetting motif
    • C07K2319/06—Fusion polypeptide containing a localisation/targetting motif containing a lysosomal/endosomal localisation signal
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    • C12N2510/00—Genetically modified cells
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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
    • 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
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    • 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
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    • 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
    • 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)
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  • Bioinformatics & Cheminformatics (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Wood Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Biochemistry (AREA)
  • Cell Biology (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Developmental Biology & Embryology (AREA)
  • Virology (AREA)
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  • Chemical Kinetics & Catalysis (AREA)
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  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
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Abstract

LA PRESENTE INVENCIÓN SE REFIERE A VARIANTES DE ALFA-GLUCOSIDASA ÁCIDA Y A USOS DE LAS MISMAS.
CL2019000609A 2016-09-12 2019-03-11 Variantes de alfa-glucosidasa ácida y usos de las mismas. CL2019000609A1 (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP16306150.0A EP3293260A1 (en) 2016-09-12 2016-09-12 Acid-alpha glucosidase variants and uses thereof
EP16306187 2016-09-16

Publications (1)

Publication Number Publication Date
CL2019000609A1 true CL2019000609A1 (es) 2019-07-05

Family

ID=59887252

Family Applications (1)

Application Number Title Priority Date Filing Date
CL2019000609A CL2019000609A1 (es) 2016-09-12 2019-03-11 Variantes de alfa-glucosidasa ácida y usos de las mismas.

Country Status (17)

Country Link
US (2) US11339406B2 (es)
EP (1) EP3510149A1 (es)
JP (2) JP7245155B2 (es)
KR (2) KR102617502B1 (es)
CN (2) CN117384890A (es)
AU (2) AU2017322376B2 (es)
BR (1) BR112019004785A2 (es)
CA (1) CA3035868A1 (es)
CL (1) CL2019000609A1 (es)
CO (1) CO2019002252A2 (es)
IL (2) IL299325A (es)
MX (2) MX2019002842A (es)
PE (1) PE20191203A1 (es)
PH (1) PH12019500408A1 (es)
SG (1) SG11201901494UA (es)
WO (1) WO2018046774A1 (es)
ZA (1) ZA201902141B (es)

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WO2021078834A1 (en) 2019-10-22 2021-04-29 Genethon Chimeric acid-alpha glucosidase polypeptides and uses thereof
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US20230365955A1 (en) 2020-10-09 2023-11-16 The Trustees Of The University Of Pennsylvania Compositions and methods for treatment of fabry disease
EP4381077A1 (en) 2021-08-04 2024-06-12 Genethon Hybrid promoters for gene expression in muscles and in the cns
WO2023102517A1 (en) 2021-12-02 2023-06-08 The Trustees Of The University Of Pennsylvania Compositions and methods for treatment of fabry disease
IL314482A (en) * 2022-02-02 2024-09-01 Regeneron Pharma Anti-TFR:GAA and anti-CD63:GAA insertions for the treatment of Pompe disease
CN118667797A (zh) * 2023-03-14 2024-09-20 北京据德医药科技有限公司 一种重组酸性α-葡萄糖苷酶及其用途

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Publication number Publication date
AU2017322376B2 (en) 2023-08-17
EP3510149A1 (en) 2019-07-17
AU2023258449A1 (en) 2023-11-23
IL265084B2 (en) 2023-05-01
KR102617502B1 (ko) 2023-12-26
JP2023072007A (ja) 2023-05-23
CN110050063A (zh) 2019-07-23
CN110050063B (zh) 2023-11-03
KR20240001721A (ko) 2024-01-03
PE20191203A1 (es) 2019-09-10
RU2019110773A3 (es) 2020-11-25
BR112019004785A2 (pt) 2019-06-04
KR20190057327A (ko) 2019-05-28
US11339406B2 (en) 2022-05-24
CA3035868A1 (en) 2018-03-15
MX2024004420A (es) 2024-05-06
CO2019002252A2 (es) 2019-05-21
PH12019500408A1 (en) 2020-01-20
RU2019110773A (ru) 2020-10-12
US20190390225A1 (en) 2019-12-26
ZA201902141B (en) 2024-03-27
MX2019002842A (es) 2019-08-29
JP7245155B2 (ja) 2023-03-23
AU2017322376A1 (en) 2019-03-28
IL265084B1 (en) 2023-01-01
SG11201901494UA (en) 2019-03-28
JP2019533990A (ja) 2019-11-28
US20220275396A1 (en) 2022-09-01
IL265084A (es) 2019-04-30
CN117384890A (zh) 2024-01-12
WO2018046774A1 (en) 2018-03-15
IL299325A (en) 2023-02-01

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