BR112022014103A2 - Terapia gênica baseada em vírus adeno-associado para fenilcetonúria - Google Patents

Terapia gênica baseada em vírus adeno-associado para fenilcetonúria

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Publication number
BR112022014103A2
BR112022014103A2 BR112022014103A BR112022014103A BR112022014103A2 BR 112022014103 A2 BR112022014103 A2 BR 112022014103A2 BR 112022014103 A BR112022014103 A BR 112022014103A BR 112022014103 A BR112022014103 A BR 112022014103A BR 112022014103 A2 BR112022014103 A2 BR 112022014103A2
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BR
Brazil
Prior art keywords
associated virus
phenylketonuria
adene
subject
gene therapy
Prior art date
Application number
BR112022014103A
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English (en)
Inventor
Klugmann Matthias
Rottensteiner Hanspeter
Horling Franziska
Lengler Johannes
Original Assignee
Takeda Pharmaceuticals Co
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Publication date
Application filed by Takeda Pharmaceuticals Co filed Critical Takeda Pharmaceuticals Co
Publication of BR112022014103A2 publication Critical patent/BR112022014103A2/pt

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    • 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
    • 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
    • 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
    • A61K48/0058—Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct
    • 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
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    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14122—New viral proteins or individual genes, new structural or functional aspects of known viral proteins or genes
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    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
    • C12N2750/14141—Use of virus, viral particle or viral elements as a vector
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    • C12N2750/00011—Details
    • C12N2750/14011—Parvoviridae
    • C12N2750/14111—Dependovirus, e.g. adenoassociated viruses
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    • C12N2830/00—Vector systems having a special element relevant for transcription
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    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/48—Vector systems having a special element relevant for transcription regulating transport or export of RNA, e.g. RRE, PRE, WPRE, CTE
    • C—CHEMISTRY; METALLURGY
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    • 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)

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  • Animal Behavior & Ethology (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)

Abstract

TERAPIA GÊNICA BASEADA EM VÍRUS ADENO-ASSOCIADO PARA FENILCETONÚRIA. A presente divulgação fornece, entre outras coisas, um vetor de vírus adenoassociado recombinante (rAAV) que compreende um capsíde o de AAV8 e uma sequência com códon otimizado que codifica uma enzima fenilalanina hidroxilase (PAH) humana. A divulgação também fornece um método de tratamento de um sujeito com fenilcetonúria (PKU) que compreende a administração, ao sujeito em necessidade, de um vetor de vírus adeno-associado recombinante (rAAV) compreendendo um capsídeo de AAV8 e um promotor operacionalmente ligado a uma sequência de ácido nucleico que codifica a PAH, e em que a administração resulta em uma diminuição no nível de fenilalanina no sujeito.
BR112022014103A 2020-01-16 2021-01-15 Terapia gênica baseada em vírus adeno-associado para fenilcetonúria BR112022014103A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US202062962011P 2020-01-16 2020-01-16
PCT/IB2021/000008 WO2021144649A2 (en) 2020-01-16 2021-01-15 Adeno associated virus based gene therapy for phenylketonuria

Publications (1)

Publication Number Publication Date
BR112022014103A2 true BR112022014103A2 (pt) 2022-09-27

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ID=74853669

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112022014103A BR112022014103A2 (pt) 2020-01-16 2021-01-15 Terapia gênica baseada em vírus adeno-associado para fenilcetonúria

Country Status (17)

Country Link
US (1) US20230055020A1 (pt)
EP (1) EP4090382A2 (pt)
JP (1) JP2023510392A (pt)
KR (1) KR20220130174A (pt)
CN (1) CN115023243A (pt)
AR (1) AR121190A1 (pt)
AU (1) AU2021208972A1 (pt)
BR (1) BR112022014103A2 (pt)
CA (1) CA3165015A1 (pt)
CL (1) CL2022001896A1 (pt)
CO (1) CO2022011421A2 (pt)
EC (1) ECSP22063944A (pt)
IL (1) IL294713A (pt)
MX (1) MX2022008677A (pt)
PE (1) PE20231100A1 (pt)
TW (1) TW202140793A (pt)
WO (1) WO2021144649A2 (pt)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP4165196A1 (en) * 2020-06-11 2023-04-19 Sangamo Therapeutics, Inc. Methods and compositions for expressing phenylalanine hydroxylase
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

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP7229161B2 (ja) * 2016-12-30 2023-02-27 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 フェニルケトン尿症を処置するための遺伝子療法
JP2021522811A (ja) * 2018-05-09 2021-09-02 ビオマリン プハルマセウトイカル インコーポレイテッド フェニルケトン尿症の治療方法

Also Published As

Publication number Publication date
CN115023243A (zh) 2022-09-06
WO2021144649A2 (en) 2021-07-22
PE20231100A1 (es) 2023-07-18
US20230055020A1 (en) 2023-02-23
AU2021208972A1 (en) 2022-08-11
CA3165015A1 (en) 2021-07-22
EP4090382A2 (en) 2022-11-23
CO2022011421A2 (es) 2022-08-30
CL2022001896A1 (es) 2023-05-12
JP2023510392A (ja) 2023-03-13
TW202140793A (zh) 2021-11-01
MX2022008677A (es) 2022-08-10
ECSP22063944A (es) 2022-09-30
KR20220130174A (ko) 2022-09-26
WO2021144649A3 (en) 2021-09-30
AR121190A1 (es) 2022-04-27
IL294713A (en) 2022-09-01

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