JP2023526923A - ポンペ病の治療に有用な組成物 - Google Patents

ポンペ病の治療に有用な組成物 Download PDF

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JP2023526923A
JP2023526923A JP2022569264A JP2022569264A JP2023526923A JP 2023526923 A JP2023526923 A JP 2023526923A JP 2022569264 A JP2022569264 A JP 2022569264A JP 2022569264 A JP2022569264 A JP 2022569264A JP 2023526923 A JP2023526923 A JP 2023526923A
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sequence
patient
certain embodiments
aav
pharmaceutical composition
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JP2023526923A5 (https=
Inventor
ウイルソン，ジェームス・エム
オルドー，ジュリエット
ドー，フン・ブイ
ゴットシャル，ラッセル
タスケ，スティーブン
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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
アミカス・セラピューティクス，インコーポレーテッド
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    • 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
    • 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
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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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    • 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
    • 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
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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
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    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14171—Demonstrated in vivo effect

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  • Health & Medical Sciences (AREA)
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  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
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  • Gastroenterology & Hepatology (AREA)
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  • Proteomics, Peptides & Aminoacids (AREA)
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JP2022569264A 2020-05-14 2021-05-14 ポンペ病の治療に有用な組成物 Pending JP2023526923A (ja)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US202063024941P 2020-05-14 2020-05-14
US63/024,941 2020-05-14
US202063109677P 2020-11-04 2020-11-04
US63/109,677 2020-11-04
US202163180379P 2021-04-27 2021-04-27
US63/180,379 2021-04-27
PCT/US2021/032451 WO2021231863A1 (en) 2020-05-14 2021-05-14 Compositions useful for treatment of pompe disease

Publications (2)

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JP2023526923A true JP2023526923A (ja) 2023-06-26
JP2023526923A5 JP2023526923A5 (https=) 2024-05-23

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JP2022569264A Pending JP2023526923A (ja) 2020-05-14 2021-05-14 ポンペ病の治療に有用な組成物

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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)

* Cited by examiner, † Cited by third party
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

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2018178067A1 (en) * 2017-03-27 2018-10-04 Vrije Universiteit Brussel Diaphragm-specific nucleic acid regulatory elements and methods and use thereof
WO2019213180A1 (en) * 2018-04-30 2019-11-07 Amicus Therapeutics, Inc. Gene therapy constructs and methods of use
JP2022530824A (ja) * 2019-04-30 2022-07-01 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

Family Cites Families (7)

* Cited by examiner, † Cited by third party
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
RU2770922C2 (ru) * 2017-09-20 2022-04-25 4Д Молекьюлар Терапьютикс Инк. Капсиды вариантов аденоассоциированных вирусов и методы их применения

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2018178067A1 (en) * 2017-03-27 2018-10-04 Vrije Universiteit Brussel Diaphragm-specific nucleic acid regulatory elements and methods and use thereof
WO2019213180A1 (en) * 2018-04-30 2019-11-07 Amicus Therapeutics, Inc. Gene therapy constructs and methods of use
JP2022530824A (ja) * 2019-04-30 2022-07-01 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
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

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
THE JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS, vol. Vol.360, pp.313-323, JPN6025026857, 2017, ISSN: 0005633700 *

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IL298178A (en) 2023-01-01
MX2022014255A (es) 2022-12-07
CO2022017224A2 (es) 2023-02-16
EP4149519A1 (en) 2023-03-22
CL2022003132A1 (es) 2023-05-19
KR20230010255A (ko) 2023-01-18
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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