MX2021004213A - Generacion de pah humana mejorada para el tratamiento de pku grave mediante terapia de sustitucion de genes dirigida al higado. - Google Patents

Generacion de pah humana mejorada para el tratamiento de pku grave mediante terapia de sustitucion de genes dirigida al higado.

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Publication number
MX2021004213A
MX2021004213A MX2021004213A MX2021004213A MX2021004213A MX 2021004213 A MX2021004213 A MX 2021004213A MX 2021004213 A MX2021004213 A MX 2021004213A MX 2021004213 A MX2021004213 A MX 2021004213A MX 2021004213 A MX2021004213 A MX 2021004213A
Authority
MX
Mexico
Prior art keywords
liver
generation
treatment
replacement therapy
gene replacement
Prior art date
Application number
MX2021004213A
Other languages
English (en)
Spanish (es)
Inventor
Sirkka Kyostio-Moore
Partha Manavalan
Original Assignee
Genzyme Corp
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 Genzyme Corp filed Critical Genzyme Corp
Publication of MX2021004213A publication Critical patent/MX2021004213A/es

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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
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0071—Oxidoreductases (1.) acting on paired donors with incorporation of molecular oxygen (1.14)
    • 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
    • A61K38/44—Oxidoreductases (1)
    • 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
    • A61K38/44—Oxidoreductases (1)
    • A61K38/443—Oxidoreductases (1) acting on CH-OH groups as donors, e.g. glucose oxidase, lactate dehydrogenase (1.1)
    • 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
    • A61K48/005—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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • 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
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/52—Genes encoding for enzymes or proenzymes
    • 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
    • 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
    • C12N15/864—Parvoviral vectors, e.g. parvovirus, densovirus
    • C12N15/8645—Adeno-associated virus
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y114/00—Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14)
    • C12Y114/16—Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14) with reduced pteridine as one donor, and incorporation of one atom of oxygen (1.14.16)
    • C12Y114/16001—Phenylalanine 4-monooxygenase (1.14.16.1)
    • 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
    • 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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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Biotechnology (AREA)
  • Biomedical Technology (AREA)
  • Biochemistry (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Hematology (AREA)
  • Obesity (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Diabetes (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Virology (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
MX2021004213A 2018-10-12 2019-10-11 Generacion de pah humana mejorada para el tratamiento de pku grave mediante terapia de sustitucion de genes dirigida al higado. MX2021004213A (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201862744944P 2018-10-12 2018-10-12
PCT/US2019/055917 WO2020077250A1 (en) 2018-10-12 2019-10-11 Generation of improved human pah for treatment of severe pku by liver-directed gene replacement therapy

Publications (1)

Publication Number Publication Date
MX2021004213A true MX2021004213A (es) 2021-07-16

Family

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Family Applications (2)

Application Number Title Priority Date Filing Date
MX2021004213A MX2021004213A (es) 2018-10-12 2019-10-11 Generacion de pah humana mejorada para el tratamiento de pku grave mediante terapia de sustitucion de genes dirigida al higado.
MX2025013445A MX2025013445A (es) 2018-10-12 2021-04-12 Generacion de pah humana mejorada para el tratamiento de pku grave mediante terapia de sustitucion de genes dirigida al higado

Family Applications After (1)

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MX2025013445A MX2025013445A (es) 2018-10-12 2021-04-12 Generacion de pah humana mejorada para el tratamiento de pku grave mediante terapia de sustitucion de genes dirigida al higado

Country Status (16)

Country Link
US (1) US20210348135A1 (enExample)
EP (2) EP3863662A1 (enExample)
JP (2) JP2022504740A (enExample)
KR (1) KR20210076051A (enExample)
CN (2) CN120349985A (enExample)
AR (1) AR116700A1 (enExample)
AU (2) AU2019357039B2 (enExample)
BR (1) BR112021006796A2 (enExample)
CA (1) CA3116283A1 (enExample)
CO (1) CO2021006060A2 (enExample)
IL (1) IL282140A (enExample)
MX (2) MX2021004213A (enExample)
PH (1) PH12021550794A1 (enExample)
SG (1) SG11202103614RA (enExample)
TW (1) TW202035439A (enExample)
WO (1) WO2020077250A1 (enExample)

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JP7721568B2 (ja) * 2020-04-21 2025-08-12 アレン インスティテュート 新皮質層5グルタミン酸作動性ニューロンにおいて遺伝子発現を選択的に調節する人工発現構築物
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TW202208632A (zh) 2020-05-27 2022-03-01 美商同源醫藥公司 用於恢復pah基因功能的腺相關病毒組成物及其使用方法
AU2021285812A1 (en) * 2020-06-01 2023-01-05 Modernatx, Inc. Phenylalanine hydroxylase variants and uses thereof
MX2023003019A (es) * 2020-09-16 2023-05-08 Generation Bio Co Vectores de adn de extremo cerrado y usos de estos para expresar fenilalanina hidroxilasa (pah).
CN116648503A (zh) * 2020-10-01 2023-08-25 建新公司 通过肝导向基因替代疗法治疗pku的人pah表达盒
KR20230079172A (ko) 2020-10-01 2023-06-05 젠자임 코포레이션 간-유도 유전자 대체 요법에 의한 pku의 치료를 위한 인간 pah 발현 카세트
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CN115572730B (zh) * 2022-04-24 2026-07-17 复旦大学附属中山医院 一种gtf2h4高表达的内皮细胞系
CN115772503B (zh) * 2022-08-16 2023-10-17 广东省南山医药创新研究院 一种表达pah的基因修饰细胞药物及其制备方法与应用
CN115948408A (zh) * 2022-09-23 2023-04-11 上海信致医药科技有限公司 改进的人凝血因子viii基因表达盒及其应用
CN117899238A (zh) * 2023-12-07 2024-04-19 哈尔滨工业大学 Pglyrp2基因的用途及其相关药物

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Also Published As

Publication number Publication date
JP2024123125A (ja) 2024-09-10
MX2025013445A (es) 2025-12-01
EP3863662A1 (en) 2021-08-18
CO2021006060A2 (es) 2021-05-20
EP4461814A3 (en) 2025-02-26
AU2025237999A1 (en) 2025-10-23
IL282140A (en) 2021-05-31
CN120349985A (zh) 2025-07-22
WO2020077250A1 (en) 2020-04-16
AU2019357039A1 (en) 2021-06-03
BR112021006796A2 (pt) 2021-07-20
AR116700A1 (es) 2021-06-02
TW202035439A (zh) 2020-10-01
JP2022504740A (ja) 2022-01-13
PH12021550794A1 (en) 2021-12-13
KR20210076051A (ko) 2021-06-23
EP4461814A2 (en) 2024-11-13
CN113194982B (zh) 2025-04-01
SG11202103614RA (en) 2021-05-28
US20210348135A1 (en) 2021-11-11
CA3116283A1 (en) 2020-04-16
CN113194982A (zh) 2021-07-30
AU2019357039B2 (en) 2025-10-09

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