SG11201901494UA - Acid-alpha glucosidase variants and uses thereof - Google Patents

Acid-alpha glucosidase variants and uses thereof

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Publication number
SG11201901494UA
SG11201901494UA SG11201901494UA SG11201901494UA SG11201901494UA SG 11201901494U A SG11201901494U A SG 11201901494UA SG 11201901494U A SG11201901494U A SG 11201901494UA SG 11201901494U A SG11201901494U A SG 11201901494UA SG 11201901494U A SG11201901494U A SG 11201901494UA
Authority
SG
Singapore
Prior art keywords
international
rue
paris
evry
september
Prior art date
Application number
SG11201901494UA
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 SG11201901494UA publication Critical patent/SG11201901494UA/en

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    • C12N15/00Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09Recombinant DNA-technology
    • C12N15/63Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/86Viral vectors
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    • C12N9/00Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14Hydrolases (3)
    • C12N9/24Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • C12N9/2405Glucanases
    • C12N9/2408Glucanases acting on alpha -1,4-glucosidic bonds
    • CCHEMISTRY; METALLURGY
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    • C12N9/00Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14Hydrolases (3)
    • C12N9/24Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K35/00Medicinal preparations containing materials or reaction products thereof with undetermined constitution
    • A61K35/12Materials from mammals; Compositions comprising non-specified tissues or cells; Compositions comprising non-embryonic stem cells; Genetically modified cells
    • A61K35/34Muscles; Smooth muscle cells; Heart; Cardiac stem cells; Myoblasts; Myocytes; Cardiomyocytes
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K35/00Medicinal preparations containing materials or reaction products thereof with undetermined constitution
    • A61K35/12Materials from mammals; Compositions comprising non-specified tissues or cells; Compositions comprising non-embryonic stem cells; Genetically modified cells
    • A61K35/37Digestive system
    • A61K35/407Liver; Hepatocytes
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00Medicinal preparations containing peptides
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005Medicinal 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
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00Drugs for disorders of the muscular or neuromuscular system
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • A61P3/08Drugs for disorders of the metabolism for glucose homeostasis
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    • C12N5/00Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
    • C12N5/06Animal cells or tissues; Human cells or tissues
    • C12N5/0602Vertebrate cells
    • C12N5/0652Cells of skeletal and connective tissues; Mesenchyme
    • C12N5/0658Skeletal muscle cells, e.g. myocytes, myotubes, myoblasts
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    • C12N5/00Undifferentiated human, animal or plant cells, e.g. cell lines; Tissues; Cultivation or maintenance thereof; Culture media therefor
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    • C12N5/0602Vertebrate cells
    • C12N5/067Hepatocytes
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K2319/00Fusion polypeptide
    • C07K2319/01Fusion polypeptide containing a localisation/targetting motif
    • C07K2319/02Fusion polypeptide containing a localisation/targetting motif containing a signal sequence
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K2319/00Fusion polypeptide
    • C07K2319/01Fusion polypeptide containing a localisation/targetting motif
    • C07K2319/06Fusion polypeptide containing a localisation/targetting motif containing a lysosomal/endosomal localisation signal
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    • C12N2750/00011Details
    • C12N2750/14011Parvoviridae
    • C12N2750/14111Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141Use of virus, viral particle or viral elements as a vector
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    • C12N2750/00011Details
    • C12N2750/14011Parvoviridae
    • C12N2750/14111Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141Use of virus, viral particle or viral elements as a vector
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    • C12N2830/00Vector systems having a special element relevant for transcription
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    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12YENZYMES
    • C12Y302/00Hydrolases acting on glycosyl compounds, i.e. glycosylases (3.2)
    • C12Y302/01Glycosidases, i.e. enzymes hydrolysing O- and S-glycosyl compounds (3.2.1)
    • C12Y302/0102Alpha-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)
  • 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)
  • Molecular Biology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Immunology (AREA)
  • Diabetes (AREA)
  • Hematology (AREA)
  • Obesity (AREA)
  • Rheumatology (AREA)
  • Nutrition Science (AREA)
  • Physiology (AREA)
  • Vascular Medicine (AREA)
  • Cardiology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
SG11201901494UA 2016-09-12 2017-09-12 Acid-alpha glucosidase variants and uses thereof SG11201901494UA (en)

Applications Claiming Priority (3)

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
PCT/EP2017/072944 WO2018046774A1 (en) 2016-09-12 2017-09-12 Acid-alpha glucosidase variants and uses thereof

Publications (1)

Publication Number Publication Date
SG11201901494UA true SG11201901494UA (en) 2019-03-28

Family

ID=59887252

Family Applications (1)

Application Number Title Priority Date Filing Date
SG11201901494UA SG11201901494UA (en) 2016-09-12 2017-09-12 Acid-alpha glucosidase variants and uses thereof

Country Status (17)

Country Link
US (2) US11339406B2 (ja)
EP (1) EP3510149A1 (ja)
JP (2) JP7245155B2 (ja)
KR (2) KR20240001721A (ja)
CN (2) CN110050063B (ja)
AU (2) AU2017322376B2 (ja)
BR (1) BR112019004785A2 (ja)
CA (1) CA3035868A1 (ja)
CL (1) CL2019000609A1 (ja)
CO (1) CO2019002252A2 (ja)
IL (2) IL299325A (ja)
MX (1) MX2019002842A (ja)
PE (1) PE20191203A1 (ja)
PH (1) PH12019500408A1 (ja)
SG (1) SG11201901494UA (ja)
WO (1) WO2018046774A1 (ja)
ZA (1) ZA201902141B (ja)

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EP3293259A1 (en) 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
EP3635009A1 (en) 2017-06-07 2020-04-15 Regeneron Pharmaceuticals, Inc. Compositions and methods for internalizing enzymes
CN113747926A (zh) 2019-04-08 2021-12-03 吉尼松公司 用于肌肉表达的杂合启动子
MX2021013365A (es) * 2019-04-30 2022-01-26 Univ Pennsylvania Composiciones utiles para el tratamiento de la enfermedad de pompe.
JP2022540632A (ja) 2019-07-09 2022-09-16 ジェネトン 糖原病(gsd)の処置
CA3145112A1 (en) * 2019-07-26 2021-02-04 Chunping Qiao Engineered nucleic acid regulatory element and methods of uses thereof
JP2022553550A (ja) 2019-10-22 2022-12-23 ジェネトン キメラポリペプチド及びその使用
WO2021078834A1 (en) 2019-10-22 2021-04-29 Genethon Chimeric acid-alpha glucosidase polypeptides and uses thereof
CA3195177A1 (en) 2020-10-07 2022-04-14 Asklepios Biopharmaceutical, Inc. Therapeutic adeno-associated virus delivery of fukutin related protein (fkrp) for treating dystroglycanopathy disorders including limb girdle 2i (lgmd2i)
US20230365955A1 (en) 2020-10-09 2023-11-16 The Trustees Of The University Of Pennsylvania Compositions and methods for treatment of fabry disease
CN117897492A (zh) 2021-08-04 2024-04-16 吉尼松公司 用于肌肉和cns中的基因表达的杂合启动子
WO2023102517A1 (en) 2021-12-02 2023-06-08 The Trustees Of The University Of Pennsylvania Compositions and methods for treatment of fabry disease
WO2023150620A1 (en) * 2022-02-02 2023-08-10 Regeneron Pharmaceuticals, Inc. Crispr-mediated transgene insertion in neonatal cells

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Also Published As

Publication number Publication date
US20190390225A1 (en) 2019-12-26
CL2019000609A1 (es) 2019-07-05
IL265084B1 (en) 2023-01-01
JP2019533990A (ja) 2019-11-28
US11339406B2 (en) 2022-05-24
KR20240001721A (ko) 2024-01-03
MX2019002842A (es) 2019-08-29
US20220275396A1 (en) 2022-09-01
PE20191203A1 (es) 2019-09-10
BR112019004785A2 (pt) 2019-06-04
RU2019110773A3 (ja) 2020-11-25
ZA201902141B (en) 2024-03-27
CN110050063B (zh) 2023-11-03
CA3035868A1 (en) 2018-03-15
JP2023072007A (ja) 2023-05-23
CN110050063A (zh) 2019-07-23
CN117384890A (zh) 2024-01-12
AU2023258449A1 (en) 2023-11-23
WO2018046774A1 (en) 2018-03-15
PH12019500408A1 (en) 2020-01-20
KR102617502B1 (ko) 2023-12-26
EP3510149A1 (en) 2019-07-17
IL265084A (ja) 2019-04-30
AU2017322376B2 (en) 2023-08-17
JP7245155B2 (ja) 2023-03-23
RU2019110773A (ru) 2020-10-12
KR20190057327A (ko) 2019-05-28
IL299325A (en) 2023-02-01
AU2017322376A1 (en) 2019-03-28
CO2019002252A2 (es) 2019-05-21
IL265084B2 (en) 2023-05-01

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