CL2022003132A1 - Composiciones útiles para el tratamiento de la enfermedad de pompe. - Google Patents
Composiciones útiles para el tratamiento de la enfermedad de pompe.Info
- Publication number
- CL2022003132A1 CL2022003132A1 CL2022003132A CL2022003132A CL2022003132A1 CL 2022003132 A1 CL2022003132 A1 CL 2022003132A1 CL 2022003132 A CL2022003132 A CL 2022003132A CL 2022003132 A CL2022003132 A CL 2022003132A CL 2022003132 A1 CL2022003132 A1 CL 2022003132A1
- Authority
- CL
- Chile
- Prior art keywords
- patient
- pompe disease
- itr
- suspected
- treatment
- Prior art date
Links
- 102100033448 Lysosomal alpha-glucosidase Human genes 0.000 title abstract 5
- 208000032007 Glycogen storage disease due to acid maltase deficiency Diseases 0.000 title abstract 4
- 206010053185 Glycogen storage disease type II Diseases 0.000 title abstract 4
- 201000004502 glycogen storage disease II Diseases 0.000 title abstract 4
- 239000000203 mixture Substances 0.000 title 1
- 230000002159 abnormal effect Effects 0.000 abstract 2
- 210000003205 muscle Anatomy 0.000 abstract 2
- 230000007170 pathology Effects 0.000 abstract 2
- 108010076504 Protein Sorting Signals Proteins 0.000 abstract 1
- 239000002253 acid Substances 0.000 abstract 1
- 108010028144 alpha-Glucosidases Proteins 0.000 abstract 1
- 210000000234 capsid Anatomy 0.000 abstract 1
- 108020001507 fusion proteins Proteins 0.000 abstract 1
- 102000037865 fusion proteins Human genes 0.000 abstract 1
- 239000002773 nucleotide Substances 0.000 abstract 1
- 125000003729 nucleotide group Chemical group 0.000 abstract 1
- 239000008194 pharmaceutical composition Substances 0.000 abstract 1
- 108090000765 processed proteins & peptides Proteins 0.000 abstract 1
Classifications
-
- 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
- A61K48/0066—Manipulation of the nucleic acid to modify its expression pattern, e.g. enhance its duration of expression, achieved by the presence of particular introns in the delivered nucleic acid
-
- 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
- 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
- A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- A61K38/18—Growth factors; Growth regulators
-
- 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
- A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
- A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
- A61K45/06—Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
-
- 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
- A61K48/0008—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 'non-active' part of the composition delivered, e.g. wherein such 'non-active' part is not delivered simultaneously with the 'active' part of the composition
-
- 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
- A61P9/00—Drugs for disorders of the cardiovascular system
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/575—Hormones
- C07K14/65—Insulin-like growth factors, i.e. somatomedins, e.g. IGF-1, IGF-2
-
- 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
- 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)
-
- 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)
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2217/00—Genetically modified animals
- A01K2217/07—Animals genetically altered by homologous recombination
- A01K2217/075—Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2227/00—Animals characterised by species
- A01K2227/10—Mammal
- A01K2227/105—Murine
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2267/00—Animals characterised by purpose
- A01K2267/03—Animal model, e.g. for test or diseases
- A01K2267/0306—Animal model for genetic diseases
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K2319/00—Fusion polypeptide
-
- 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
- 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
- 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
- C12N2750/14171—Demonstrated in vivo effect
Landscapes
- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Organic Chemistry (AREA)
- Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Medicinal Chemistry (AREA)
- Veterinary Medicine (AREA)
- Pharmacology & Pharmacy (AREA)
- Public Health (AREA)
- Animal Behavior & Ethology (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Molecular Biology (AREA)
- Biochemistry (AREA)
- Biotechnology (AREA)
- General Engineering & Computer Science (AREA)
- Epidemiology (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Chemical Kinetics & Catalysis (AREA)
- General Chemical & Material Sciences (AREA)
- Biomedical Technology (AREA)
- Diabetes (AREA)
- Gastroenterology & Hepatology (AREA)
- Biophysics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Microbiology (AREA)
- Obesity (AREA)
- Hematology (AREA)
- Neurology (AREA)
- Orthopedic Medicine & Surgery (AREA)
- Heart & Thoracic Surgery (AREA)
- Cardiology (AREA)
- Endocrinology (AREA)
- Toxicology (AREA)
- Physical Education & Sports Medicine (AREA)
- Plant Pathology (AREA)
- Immunology (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US202063024941P | 2020-05-14 | 2020-05-14 | |
| US202063109677P | 2020-11-04 | 2020-11-04 | |
| US202163180379P | 2021-04-27 | 2021-04-27 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CL2022003132A1 true CL2022003132A1 (es) | 2023-05-19 |
Family
ID=78525047
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CL2022003132A CL2022003132A1 (es) | 2020-05-14 | 2022-11-10 | Composiciones útiles para el tratamiento de la enfermedad de pompe. |
Country Status (13)
| Country | Link |
|---|---|
| US (1) | US20230173108A1 (https=) |
| EP (1) | EP4149519A4 (https=) |
| JP (1) | JP2023526923A (https=) |
| KR (1) | KR20230010255A (https=) |
| CN (1) | CN115916334A (https=) |
| AU (1) | AU2021273273A1 (https=) |
| BR (1) | BR112022022704A2 (https=) |
| CA (1) | CA3177954A1 (https=) |
| CL (1) | CL2022003132A1 (https=) |
| CO (1) | CO2022017224A2 (https=) |
| IL (1) | IL298178A (https=) |
| MX (1) | MX2022014255A (https=) |
| WO (1) | WO2021231863A1 (https=) |
Families Citing this family (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2024003687A1 (en) * | 2022-06-28 | 2024-01-04 | Pfizer Inc. | Nucleic acids encoding acid alpha-glucosidase (gaa) and vectors for gene therapy |
| WO2024151982A1 (en) * | 2023-01-13 | 2024-07-18 | Amicus Therapeutics, Inc. | Gene therapy constructs for the treatment of pompe disease |
Family Cites Families (10)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP2099523A2 (en) * | 2006-11-13 | 2009-09-16 | ZyStor Therapeutics , Inc. | Methods for treating pompe disease |
| US20120322861A1 (en) * | 2007-02-23 | 2012-12-20 | Barry John Byrne | Compositions and Methods for Treating Diseases |
| KR20230066482A (ko) * | 2012-03-07 | 2023-05-15 | 아미쿠스 세라퓨틱스, 인코포레이티드 | 폼페병의 치료를 위한 고농도 알파-글루코시다제 조성물 |
| PL3097197T3 (pl) * | 2014-01-21 | 2021-06-28 | Vrije Universiteit Brussel | Mięśniowo-specyficzne elementy regulatorowe kwasów nukleinowych oraz sposoby i ich zastosowanie |
| US20170037431A1 (en) * | 2014-05-01 | 2017-02-09 | University Of Washington | In vivo Gene Engineering with Adenoviral Vectors |
| EP2960336A1 (en) * | 2014-06-27 | 2015-12-30 | Genethon | Efficient systemic treatment of dystrophic muscle pathologies |
| WO2018178067A1 (en) * | 2017-03-27 | 2018-10-04 | Vrije Universiteit Brussel | Diaphragm-specific nucleic acid regulatory elements and methods and use thereof |
| RU2770922C2 (ru) * | 2017-09-20 | 2022-04-25 | 4Д Молекьюлар Терапьютикс Инк. | Капсиды вариантов аденоассоциированных вирусов и методы их применения |
| BR112020021962A2 (pt) * | 2018-04-30 | 2021-01-26 | Amicus Therapeutics, Inc. | construtos para terapia gênica e métodos de uso |
| JP7585233B2 (ja) * | 2019-04-30 | 2024-11-18 | ザ・トラステイーズ・オブ・ザ・ユニバーシテイ・オブ・ペンシルベニア | ポンペ病の治療のために有用な組成物 |
-
2021
- 2021-05-14 WO PCT/US2021/032451 patent/WO2021231863A1/en not_active Ceased
- 2021-05-14 IL IL298178A patent/IL298178A/en unknown
- 2021-05-14 US US17/998,371 patent/US20230173108A1/en active Pending
- 2021-05-14 AU AU2021273273A patent/AU2021273273A1/en not_active Abandoned
- 2021-05-14 CN CN202180049054.5A patent/CN115916334A/zh active Pending
- 2021-05-14 MX MX2022014255A patent/MX2022014255A/es unknown
- 2021-05-14 BR BR112022022704A patent/BR112022022704A2/pt unknown
- 2021-05-14 KR KR1020227043641A patent/KR20230010255A/ko not_active Withdrawn
- 2021-05-14 CA CA3177954A patent/CA3177954A1/en active Pending
- 2021-05-14 JP JP2022569264A patent/JP2023526923A/ja active Pending
- 2021-05-14 EP EP21804731.4A patent/EP4149519A4/en not_active Withdrawn
-
2022
- 2022-11-10 CL CL2022003132A patent/CL2022003132A1/es unknown
- 2022-11-30 CO CONC2022/0017224A patent/CO2022017224A2/es unknown
Also Published As
| Publication number | Publication date |
|---|---|
| IL298178A (en) | 2023-01-01 |
| MX2022014255A (es) | 2022-12-07 |
| CO2022017224A2 (es) | 2023-02-16 |
| EP4149519A1 (en) | 2023-03-22 |
| KR20230010255A (ko) | 2023-01-18 |
| JP2023526923A (ja) | 2023-06-26 |
| CN115916334A (zh) | 2023-04-04 |
| WO2021231863A1 (en) | 2021-11-18 |
| CA3177954A1 (en) | 2021-11-18 |
| EP4149519A4 (en) | 2024-06-12 |
| US20230173108A1 (en) | 2023-06-08 |
| BR112022022704A2 (pt) | 2023-03-28 |
| AU2021273273A1 (en) | 2023-02-02 |
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