CO2019002248A2 - Variantes de alfa-glucosidasa ácida y usos de las mismas - Google Patents
Variantes de alfa-glucosidasa ácida y usos de las mismasInfo
- Publication number
- CO2019002248A2 CO2019002248A2 CONC2019/0002248A CO2019002248A CO2019002248A2 CO 2019002248 A2 CO2019002248 A2 CO 2019002248A2 CO 2019002248 A CO2019002248 A CO 2019002248A CO 2019002248 A2 CO2019002248 A2 CO 2019002248A2
- Authority
- CO
- Colombia
- Prior art keywords
- glucosidase
- variants
- acid alpha
- alpha
- acid
- Prior art date
Links
- 102100024295 Maltase-glucoamylase Human genes 0.000 title abstract 2
- 239000002253 acid Substances 0.000 title abstract 2
- 108010028144 alpha-Glucosidases Proteins 0.000 title abstract 2
Classifications
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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
- 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
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- 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
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- 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
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K38/00—Medicinal preparations containing peptides
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- 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
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- 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
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- 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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- 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
- 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
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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
- 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
- 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)
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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)
- C12N9/2405—Glucanases
- C12N9/2408—Glucanases acting on alpha -1,4-glucosidic bonds
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- 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
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- 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
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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- C12N2510/00—Genetically modified cells
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- 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
- 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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- 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
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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
- 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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- 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
-
- 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)
Landscapes
- 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)
- Wood Science & Technology (AREA)
- Biomedical Technology (AREA)
- Biotechnology (AREA)
- Medicinal Chemistry (AREA)
- General Engineering & Computer Science (AREA)
- Pharmacology & Pharmacy (AREA)
- Animal Behavior & Ethology (AREA)
- Public Health (AREA)
- Veterinary Medicine (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Virology (AREA)
- Cell Biology (AREA)
- Molecular Biology (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- General Chemical & Material Sciences (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Developmental Biology & Embryology (AREA)
- Immunology (AREA)
- Epidemiology (AREA)
- Diabetes (AREA)
- Obesity (AREA)
- Hematology (AREA)
- Physics & Mathematics (AREA)
- Plant Pathology (AREA)
- Biophysics (AREA)
- Cardiology (AREA)
- Physiology (AREA)
- Nutrition Science (AREA)
- Vascular Medicine (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
Abstract
La presente invención se refiere a variantes de alfa-glucosidasa ácida y usos de las mismas.
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| EP16306149.2A EP3293203A1 (en) | 2016-09-12 | 2016-09-12 | Acid-alpha glucosidase variants and uses thereof |
| PCT/EP2017/072945 WO2018046775A1 (en) | 2016-09-12 | 2017-09-12 | Acid-alpha glucosidase variants and uses thereof |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CO2019002248A2 true CO2019002248A2 (es) | 2019-05-21 |
Family
ID=56990394
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CONC2019/0002248A CO2019002248A2 (es) | 2016-09-12 | 2019-03-12 | Variantes de alfa-glucosidasa ácida y usos de las mismas |
Country Status (20)
| Country | Link |
|---|---|
| US (3) | US20190390224A1 (es) |
| EP (3) | EP3293203A1 (es) |
| JP (2) | JP2019533991A (es) |
| KR (2) | KR20230049763A (es) |
| CN (2) | CN109843930B (es) |
| AU (1) | AU2017322377B2 (es) |
| BR (1) | BR112019004783A2 (es) |
| CA (1) | CA3036368A1 (es) |
| CL (1) | CL2019000610A1 (es) |
| CO (1) | CO2019002248A2 (es) |
| DK (1) | DK3510049T3 (es) |
| ES (1) | ES2970293T3 (es) |
| FI (1) | FI3510049T3 (es) |
| IL (2) | IL302354B1 (es) |
| MX (1) | MX2019002841A (es) |
| PE (1) | PE20190802A1 (es) |
| PH (1) | PH12019500376A1 (es) |
| PT (1) | PT3510049T (es) |
| SG (1) | SG11201901430WA (es) |
| WO (1) | WO2018046775A1 (es) |
Families Citing this family (11)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB201508026D0 (en) | 2015-05-11 | 2015-06-24 | Ucl Business Plc | Capsid |
| EP3293259A1 (en) | 2016-09-12 | 2018-03-14 | Genethon | Acid-alpha glucosidase variants and uses thereof |
| US11339406B2 (en) | 2016-09-12 | 2022-05-24 | Genethon | Acid-alpha glucosidase variants and uses thereof |
| CN110809583A (zh) | 2017-06-07 | 2020-02-18 | 瑞泽恩制药公司 | 用于内化酶的组合物和方法 |
| BR112020023393A2 (pt) * | 2018-05-16 | 2021-02-09 | Spark Therapeutics, Inc. | cassetes de expressão de a-glicosidase ácida otimizados por códon e métodos de uso dos mesmos |
| 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 |
| 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 |
| 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 |
| TW202136506A (zh) * | 2019-12-20 | 2021-10-01 | 美商克迪科思股份有限公司 | 經工程處理之酸性α-葡萄糖苷酶變異體 |
| 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 |
Family Cites Families (17)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6858425B1 (en) | 1998-12-04 | 2005-02-22 | Genzyme Corporation | Human acid alpha glucosidase gene and bovine alpha-S1 casein gene sequences |
| CA2353522A1 (en) | 1998-12-07 | 2000-06-15 | Pharming Intellectual Property B.V. | Treatment of pompe's disease |
| US7629309B2 (en) * | 2002-05-29 | 2009-12-08 | Zystor Therapeutics, Inc. | Targeted therapeutic proteins |
| WO2004064750A2 (en) | 2003-01-22 | 2004-08-05 | Duke University | Improved constructs for expressing lysosomal polypeptides |
| JP4914224B2 (ja) * | 2004-02-10 | 2012-04-11 | バイオマリン ファーマシューティカル インコーポレイテッド | 酸性αグルコシダーゼおよびそのフラグメント |
| US8633006B2 (en) * | 2004-06-29 | 2014-01-21 | Novozymes, Inc. | Polypeptides having alpha-glucosidase activity and polynucleotides encoding same |
| EP3290513B1 (en) | 2004-06-01 | 2022-09-07 | Genzyme Corporation | Compositions and methods to prevent aav vector aggregation |
| HUE025212T2 (en) | 2008-07-08 | 2016-03-29 | Univ Duke | A method for treating glycogen storage disease |
| WO2012085622A1 (en) * | 2010-12-22 | 2012-06-28 | Fondazione Telethon | Therapeutic strategies to treat cns pathology in mucopolysaccharidoses |
| MX2013012345A (es) | 2011-04-22 | 2015-05-07 | Genzyme Corp | Alfa glucosidasa acida modificada con procesamiento acelerado. |
| WO2013013017A2 (en) * | 2011-07-21 | 2013-01-24 | Alnylam Pharmaceuticals, Inc. | Compositions and methods for modifying the glycosylation of lysosomal storage disorder therapeutics |
| US9540657B2 (en) * | 2012-05-25 | 2017-01-10 | California Institute Of Technology | Expression of secreted and cell-surface polypeptides |
| CN110606874B (zh) | 2013-07-22 | 2024-04-19 | 费城儿童医院 | 用于基因转移到细胞、器官和组织中的变异aav和组合物、方法及用途 |
| EP3851537B1 (en) | 2014-04-25 | 2023-12-27 | Genethon | Treatment of hyperbilirubinemia |
| US10202591B2 (en) * | 2014-06-13 | 2019-02-12 | Valerion Therapeutics, Llc | Methods and compositions for treatment of glycogen storage diseases and glycogen metabolism disorders |
| WO2015196179A1 (en) | 2014-06-20 | 2015-12-23 | University Of Florida Research Foundation, Inc. | Methods of packaging multiple adeno-associated virus vectors |
| WO2016065319A1 (en) * | 2014-10-24 | 2016-04-28 | Shire Human Genetic Therapies, Inc. | Lysosomal targeting of enzymes, and uses thereof |
-
2016
- 2016-09-12 EP EP16306149.2A patent/EP3293203A1/en not_active Withdrawn
-
2017
- 2017-09-12 PE PE2019000499A patent/PE20190802A1/es unknown
- 2017-09-12 KR KR1020237011129A patent/KR20230049763A/ko not_active Application Discontinuation
- 2017-09-12 US US16/332,376 patent/US20190390224A1/en not_active Abandoned
- 2017-09-12 MX MX2019002841A patent/MX2019002841A/es unknown
- 2017-09-12 WO PCT/EP2017/072945 patent/WO2018046775A1/en active Application Filing
- 2017-09-12 CN CN201780054962.7A patent/CN109843930B/zh active Active
- 2017-09-12 ES ES17768082T patent/ES2970293T3/es active Active
- 2017-09-12 JP JP2019513381A patent/JP2019533991A/ja active Pending
- 2017-09-12 KR KR1020197010349A patent/KR20190056388A/ko not_active Application Discontinuation
- 2017-09-12 CN CN202311345155.4A patent/CN117512014A/zh active Pending
- 2017-09-12 IL IL302354A patent/IL302354B1/en unknown
- 2017-09-12 AU AU2017322377A patent/AU2017322377B2/en active Active
- 2017-09-12 FI FIEP17768082.4T patent/FI3510049T3/fi active
- 2017-09-12 DK DK17768082.4T patent/DK3510049T3/da active
- 2017-09-12 SG SG11201901430WA patent/SG11201901430WA/en unknown
- 2017-09-12 CA CA3036368A patent/CA3036368A1/en active Pending
- 2017-09-12 IL IL265170A patent/IL265170B2/en unknown
- 2017-09-12 BR BR112019004783A patent/BR112019004783A2/pt unknown
- 2017-09-12 EP EP17768082.4A patent/EP3510049B8/en active Active
- 2017-09-12 EP EP23208091.1A patent/EP4361178A2/en active Pending
- 2017-09-12 PT PT177680824T patent/PT3510049T/pt unknown
-
2019
- 2019-02-21 PH PH12019500376A patent/PH12019500376A1/en unknown
- 2019-03-11 CL CL2019000610A patent/CL2019000610A1/es unknown
- 2019-03-12 CO CONC2019/0002248A patent/CO2019002248A2/es unknown
-
2020
- 2020-10-16 US US17/072,065 patent/US20210040503A1/en not_active Abandoned
-
2022
- 2022-09-22 JP JP2022151296A patent/JP2022180543A/ja active Pending
- 2022-11-23 US US18/058,283 patent/US20240043867A1/en active Pending
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