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CL2019000610A1 - Variantes de alfa-glucosidasa ácida y usos de las mismas. - Google Patents

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

Info

Publication number
CL2019000610A1
CL2019000610A1 CL2019000610A CL2019000610A CL2019000610A1 CL 2019000610 A1 CL2019000610 A1 CL 2019000610A1 CL 2019000610 A CL2019000610 A CL 2019000610A CL 2019000610 A CL2019000610 A CL 2019000610A CL 2019000610 A1 CL2019000610 A1 CL 2019000610A1
Authority
CL
Chile
Prior art keywords
variants
glucosidase
acid alpha
acid
alpha
Prior art date
Application number
CL2019000610A
Other languages
English (en)
Inventor
Federico Mingozzi
Giuseppe Ronzitti
Pasqualina Colella
Francesco Puzzo
Original Assignee
Genethon
Univ Sorbonne
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 Genethon, Univ Sorbonne filed Critical Genethon
Publication of CL2019000610A1 publication Critical patent/CL2019000610A1/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
    • 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
    • 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
    • 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
    • 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
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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
    • 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)
    • 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)
    • C12N9/2405—Glucanases
    • C12N9/2408—Glucanases acting on alpha -1,4-glucosidic bonds
    • 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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    • C12N2740/00—Reverse transcribing RNA viruses
    • C12N2740/00011—Details
    • C12N2740/10011—Retroviridae
    • C12N2740/15011—Lentivirus, not HIV, e.g. FIV, SIV
    • C12N2740/15041—Use of virus, viral particle or viral elements as a vector
    • C12N2740/15043—Use of virus, viral particle or viral elements as a vector viral genome or elements thereof as genetic vector
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • 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
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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
    • 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)

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Genetics & Genomics (AREA)
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  • Virology (AREA)
  • Cell Biology (AREA)
  • Molecular Biology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Developmental Biology & Embryology (AREA)
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  • Epidemiology (AREA)
  • Diabetes (AREA)
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  • Biophysics (AREA)
  • Nutrition Science (AREA)
  • Cardiology (AREA)
  • Vascular Medicine (AREA)
  • Physiology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)

Abstract

LA PRESENTE INVENCIÓN SE REFIERE A VARIANTES DE ALFA-GLUCOSIDASA ÁCIDA Y USOS DE LAS MISMAS.
CL2019000610A 2016-09-12 2019-03-11 Variantes de alfa-glucosidasa ácida y usos de las mismas. CL2019000610A1 (es)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
EP16306149.2A EP3293203A1 (en) 2016-09-12 2016-09-12 Acid-alpha glucosidase variants and uses thereof

Publications (1)

Publication Number Publication Date
CL2019000610A1 true CL2019000610A1 (es) 2019-07-05

Family

ID=56990394

Family Applications (1)

Application Number Title Priority Date Filing Date
CL2019000610A CL2019000610A1 (es) 2016-09-12 2019-03-11 Variantes de alfa-glucosidasa ácida y usos de las mismas.

Country Status (23)

Country Link
US (3) US20190390224A1 (es)
EP (3) EP3293203A1 (es)
JP (2) JP7601554B2 (es)
KR (2) KR20190056388A (es)
CN (2) CN109843930B (es)
AU (2) AU2017322377B2 (es)
BR (1) BR112019004783A2 (es)
CA (1) CA3036368A1 (es)
CL (1) CL2019000610A1 (es)
CO (1) CO2019002248A2 (es)
DK (1) DK3510049T5 (es)
ES (1) ES2970293T3 (es)
FI (1) FI3510049T3 (es)
IL (2) IL265170B2 (es)
MX (2) MX2019002841A (es)
MY (1) MY205583A (es)
PE (2) PE20241128A1 (es)
PH (1) PH12019500376A1 (es)
PL (1) PL3510049T3 (es)
PT (1) PT3510049T (es)
SG (1) SG11201901430WA (es)
WO (1) WO2018046775A1 (es)
ZA (1) ZA201902140B (es)

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EP3293259A1 (en) 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
IL319481A (en) 2016-09-12 2025-05-01 Inst Nat Sante Rech Med Variants of acid alpha-glucosidase and their uses
BR112019025888A2 (pt) 2017-06-07 2020-06-30 Regeneron Pharmaceuticals, Inc. polinucleotídeo que codifica uma proteína terapêutica multidomínio, vetor de terapia gênica, proteína terapêutica multidomínio recombinante, método de expressão, métodos para reduzir o acúmulo de glicogênio em um tecido em um paciente em necessidade, para reduzir o acúmulo de glicogênio em um tecido em um paciente em necessidade epara tratar a deficiência enzimática em um paciente em necessidade e/ou tolerar o paciente à enzima para a qual é deficiente, anticorpo anti-cd63 ou fragmento de ligação a antígeno, e, composição farmacêutica
AU2019218892B2 (en) 2018-02-07 2025-08-14 Regeneron Pharmaceuticals, Inc. Methods and compositions for therapeutic protein delivery
WO2019222411A1 (en) * 2018-05-16 2019-11-21 Spark Therapeutics, Inc. Codon-optimized acid αlpha-glucosidase expression cassettes and methods of using same
SG11202011232VA (en) 2018-05-17 2020-12-30 Regeneron Pharma Anti-cd63 antibodies, conjugates, and uses thereof
US12018087B2 (en) 2018-08-02 2024-06-25 Dyne Therapeutics, Inc. Muscle-targeting complexes comprising an anti-transferrin receptor antibody linked to an oligonucleotide and methods of delivering oligonucleotide to a subject
MX2021002198A (es) 2018-08-24 2021-07-15 Spark Therapeutics Inc Secuencias de promotores optimizadas, construcciones de expresion libres de intrones y metodos de uso.
KR20210148273A (ko) 2019-04-08 2021-12-07 제네똥 근육 발현을 위한 하이브리드 프로모터
EP3996696A1 (en) 2019-07-09 2022-05-18 Genethon Treatment of glycogen storage disease (gsd)
WO2021078834A1 (en) 2019-10-22 2021-04-29 Genethon Chimeric acid-alpha glucosidase polypeptides and uses thereof
US20230033268A1 (en) 2019-10-22 2023-02-02 Genethon Chimeric polypeptides and uses thereof
MX2022007399A (es) * 2019-12-20 2022-09-19 Codexis Inc Variantes de alfa-glucosidasa ácida diseñadas.
EP3913060A1 (en) * 2020-05-22 2021-11-24 Genethon Vectors encoding a glucose-6-phosphatase (g6pase-a) for gene therapy
JP2024529540A (ja) 2021-08-04 2024-08-06 ジェネトン 筋肉及びｃｎｓにおける遺伝子発現のためのハイブリッドプロモーター

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JP4990434B2 (ja) 1998-12-07 2012-08-01 ジェンザイム・コーポレーション ポンペ病の処置
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Publication number Publication date
IL265170B2 (en) 2023-10-01
AU2017322377A1 (en) 2019-03-28
IL302354A (en) 2023-06-01
IL265170A (en) 2019-05-30
IL302354B2 (en) 2024-09-01
SG11201901430WA (en) 2019-03-28
CN109843930A (zh) 2019-06-04
PH12019500376A1 (en) 2019-05-15
CO2019002248A2 (es) 2019-05-21
MX2019002841A (es) 2019-08-29
EP4361178A3 (en) 2024-07-17
ZA201902140B (en) 2024-12-18
JP2019533991A (ja) 2019-11-28
IL302354B1 (en) 2024-05-01
PL3510049T3 (pl) 2024-08-19
PE20190802A1 (es) 2019-06-10
RU2019110772A (ru) 2020-10-12
PE20241128A1 (es) 2024-05-24
US20240043867A1 (en) 2024-02-08
JP7601554B2 (ja) 2024-12-17
CN117512014A (zh) 2024-02-06
ES2970293T3 (es) 2024-05-27
FI3510049T3 (fi) 2024-02-02
DK3510049T5 (da) 2024-09-02
IL265170B1 (en) 2023-06-01
RU2019110772A3 (es) 2020-11-25
KR20230049763A (ko) 2023-04-13
KR20190056388A (ko) 2019-05-24
EP3510049B1 (en) 2023-11-08
DK3510049T3 (da) 2024-01-29
EP3510049A1 (en) 2019-07-17
JP2022180543A (ja) 2022-12-06
PT3510049T (pt) 2024-01-30
BR112019004783A2 (pt) 2019-06-04
EP3293203A1 (en) 2018-03-14
EP4361178A2 (en) 2024-05-01
AU2017322377B2 (en) 2024-05-16
CA3036368A1 (en) 2018-03-15
CN109843930B (zh) 2023-11-17
MY205583A (en) 2024-10-28
EP3510049B8 (en) 2023-12-20
AU2024205629A1 (en) 2024-08-29
WO2018046775A1 (en) 2018-03-15
MX2024004419A (es) 2024-05-03
US20190390224A1 (en) 2019-12-26
JP7667122B2 (ja) 2025-04-22
US20210040503A1 (en) 2021-02-11

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