CO2023003418A2 - Casete de expresión de pah humana para el tratamiento de la pku mediante terapia de reemplazo génico dirigida al hígado - Google Patents

Casete de expresión de pah humana para el tratamiento de la pku mediante terapia de reemplazo génico dirigida al hígado

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Publication number
CO2023003418A2
CO2023003418A2 CONC2023/0003418A CO2023003418A CO2023003418A2 CO 2023003418 A2 CO2023003418 A2 CO 2023003418A2 CO 2023003418 A CO2023003418 A CO 2023003418A CO 2023003418 A2 CO2023003418 A2 CO 2023003418A2
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CO
Colombia
Prior art keywords
pku
liver
treatment
expression cassette
replacement therapy
Prior art date
Application number
CONC2023/0003418A
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English (en)
Inventor
Sirkka R M Kyostio-Moore
Original Assignee
Genzyme Corp
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Filing date
Publication date
Application filed by Genzyme Corp filed Critical Genzyme Corp
Publication of CO2023003418A2 publication Critical patent/CO2023003418A2/es

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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
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00Medicinal preparations containing organic active ingredients
    • A61K31/33Heterocyclic compounds
    • A61K31/395Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/495Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
    • A61K31/505Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim
    • A61K31/519Pyrimidines; Hydrogenated pyrimidines, e.g. trimethoprim ortho- or peri-condensed with heterocyclic rings
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
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    • A61K38/00Medicinal preparations containing peptides
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    • A61K38/43Enzymes; Proenzymes; Derivatives thereof
    • A61K38/51Lyases (4)
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    • 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
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    • 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
    • A61K48/0058Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P1/00Drugs for disorders of the alimentary tract or the digestive system
    • A61P1/16Drugs for disorders of the alimentary tract or the digestive system for liver or gallbladder disorders, e.g. hepatoprotective agents, cholagogues, litholytics
    • AHUMAN NECESSITIES
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    • C12Y114/16001Phenylalanine 4-monooxygenase (1.14.16.1)
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    • C12N2830/50Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal

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  • Health & Medical Sciences (AREA)
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  • Gastroenterology & Hepatology (AREA)
  • Microbiology (AREA)
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  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Radiation-Therapy Devices (AREA)

Abstract

En la presente memoria se proporcionan casetes de expresión para expresar un transgén en una célula hepática, en donde el transgén codifica un polipéptido PAH. También se proporcionan métodos para tratar la fenilcetonuria (PKU) y/o para reducir los niveles de fenilalanina en un individuo que lo necesita. En la presente memoria se proporcionan además vectores (p. ej., vectores rAAV), partículas virales, composiciones farmacéuticas y kits para expresar un polipéptido PAH en un individuo que lo necesita.
CONC2023/0003418A 2020-10-01 2023-03-21 Casete de expresión de pah humana para el tratamiento de la pku mediante terapia de reemplazo génico dirigida al hígado CO2023003418A2 (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063086537P 2020-10-01 2020-10-01
US202063121797P 2020-12-04 2020-12-04
PCT/US2021/052913 WO2022072657A1 (en) 2020-10-01 2021-09-30 Human pah expression cassette for treatment of pku by liver-directed gene replacement therapy

Publications (1)

Publication Number Publication Date
CO2023003418A2 true CO2023003418A2 (es) 2023-03-27

Family

ID=78599166

Family Applications (1)

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CONC2023/0003418A CO2023003418A2 (es) 2020-10-01 2023-03-21 Casete de expresión de pah humana para el tratamiento de la pku mediante terapia de reemplazo génico dirigida al hígado

Country Status (12)

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US (1) US20220112520A1 (es)
EP (1) EP4222251A1 (es)
JP (1) JP2023544165A (es)
KR (1) KR20230079172A (es)
AU (1) AU2021355481A1 (es)
BR (1) BR112023003929A2 (es)
CA (1) CA3193866A1 (es)
CO (1) CO2023003418A2 (es)
IL (1) IL301677A (es)
MX (1) MX2023003805A (es)
TW (1) TW202229559A (es)
WO (1) WO2022072657A1 (es)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115896135B (zh) * 2022-11-02 2024-03-01 苏州诺洁贝生物技术有限公司 优化的pah基因和表达盒及其用途

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NZ522840A (en) 2000-06-01 2004-12-24 Univ North Carolina A parvovirus vector that carries a duplexed genome resulting in co-packaging of strands of plus and minus polarity tethered together
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SG11202103614RA (en) 2018-10-12 2021-05-28 Genzyme Corp Generation of improved human pah for treatment of severe pku by liver-directed gene replacement therapy

Also Published As

Publication number Publication date
WO2022072657A1 (en) 2022-04-07
EP4222251A1 (en) 2023-08-09
IL301677A (en) 2023-05-01
JP2023544165A (ja) 2023-10-20
BR112023003929A2 (pt) 2023-04-11
AU2021355481A1 (en) 2023-06-08
US20220112520A1 (en) 2022-04-14
CA3193866A1 (en) 2022-04-07
KR20230079172A (ko) 2023-06-05
TW202229559A (zh) 2022-08-01
MX2023003805A (es) 2023-04-12

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