JP2023545433A - ファブリー病の治療のための組成物及び方法 - Google Patents

ファブリー病の治療のための組成物及び方法 Download PDF

Info

Publication number
JP2023545433A
JP2023545433A JP2023521706A JP2023521706A JP2023545433A JP 2023545433 A JP2023545433 A JP 2023545433A JP 2023521706 A JP2023521706 A JP 2023521706A JP 2023521706 A JP2023521706 A JP 2023521706A JP 2023545433 A JP2023545433 A JP 2023545433A
Authority
JP
Japan
Prior art keywords
hgla
gla
seq
sequence
mice
Prior art date
Legal status (The legal status 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 status listed.)
Pending
Application number
JP2023521706A
Other languages
English (en)
Japanese (ja)
Other versions
JP2023545433A5 (https=
Inventor
オルドー，ジュリエット
Original Assignee
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
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 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 filed Critical 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
Publication of JP2023545433A publication Critical patent/JP2023545433A/ja
Publication of JP2023545433A5 publication Critical patent/JP2023545433A5/ja
Pending legal-status Critical Current

Links

Images

Classifications

    • 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)
    • C12N9/2465—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1) acting on alpha-galactose-glycoside bonds, e.g. alpha-galactosidase (3.2.1.22)
    • 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
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • 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)
    • C12Y302/01022—Alpha-galactosidase (3.2.1.22)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/008—Vector systems having a special element relevant for transcription cell type or tissue specific enhancer/promoter combination
    • 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
    • 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
    • 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
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal

Landscapes

  • 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)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Virology (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Enzymes And Modification Thereof (AREA)
JP2023521706A 2020-10-09 2021-10-08 ファブリー病の治療のための組成物及び方法 Pending JP2023545433A (ja)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US202063089850P 2020-10-09 2020-10-09
US63/089,850 2020-10-09
US202163146286P 2021-02-05 2021-02-05
US63/146,286 2021-02-05
US202163186092P 2021-05-08 2021-05-08
US63/186,092 2021-05-08
PCT/US2021/054145 WO2022076803A1 (en) 2020-10-09 2021-10-08 Compositions and methods for treatment of fabry disease

Publications (2)

Publication Number Publication Date
JP2023545433A true JP2023545433A (ja) 2023-10-30
JP2023545433A5 JP2023545433A5 (https=) 2024-10-10

Family

ID=81125461

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2023521706A Pending JP2023545433A (ja) 2020-10-09 2021-10-08 ファブリー病の治療のための組成物及び方法

Country Status (8)

Country Link
US (1) US20230365955A1 (https=)
EP (1) EP4225906A1 (https=)
JP (1) JP2023545433A (https=)
KR (1) KR20230118075A (https=)
AU (1) AU2021356684A1 (https=)
CA (1) CA3193833A1 (https=)
TW (1) TW202229560A (https=)
WO (1) WO2022076803A1 (https=)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AR124981A1 (es) * 2021-02-26 2023-05-24 Takeda Pharmaceuticals Co Composición y métodos para el tratamiento de la enfermedad de fabry
US20240408157A1 (en) * 2021-12-02 2024-12-12 The Trustees Of The University Of Pennsylvania Compositions and methods for treatment of fabry disease
EP4551711A1 (en) * 2022-07-08 2025-05-14 Cornell University Methods and pharmaceutical compositions for the treatment and the prevention of alzheimers disease
AU2023331251A1 (en) * 2022-08-25 2025-02-27 Takeda Pharmaceutical Company Limited Composition for use in the treatment of fabry disease
EP4634394A2 (en) 2022-12-17 2025-10-22 The Trustees of The University of Pennsylvania Recombinant aav mutant vectors with cardiac and skeletal muscle-specific targeting motifs and compositions containing same
TW202516019A (zh) 2023-06-29 2025-04-16 賓州大學委員會 具中樞神經系統靶向模體的突變aav及含有其之組成物
WO2025106661A1 (en) 2023-11-14 2025-05-22 The Trustees Of The University Of Pennsylvania Compositions with cardiac and skeletal musclespecific targeting motifs and uses thereof

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2020077114A2 (en) * 2018-10-10 2020-04-16 Amicus Therapeutics, Inc. Disulfide bond stabilized polypeptide compositions and methods of use
WO2020132455A1 (en) * 2018-12-21 2020-06-25 The Trustees Of The University Of Pennsylvania Compositions for drg-specific reduction of transgene expression
WO2020142752A1 (en) * 2019-01-04 2020-07-09 Sangamo Therapeutics, Inc. Methods and compositions for the treatment of fabry disease

Family Cites Families (31)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5786464C1 (en) 1994-09-19 2012-04-24 Gen Hospital Corp Overexpression of mammalian and viral proteins
US6136597A (en) 1997-09-18 2000-10-24 The Salk Institute For Biological Studies RNA export element
CA2379166C (en) 1999-08-09 2013-03-26 Targeted Genetics Corporation Enhancement of expression of a single-stranded, heterologous nucleotide sequence from recombinant viral vectors by designing the sequence such that it forms instrastrand base pairs
US7419829B2 (en) 2000-10-06 2008-09-02 Oxford Biomedica (Uk) Limited Vector system
MX359371B (es) 2001-11-13 2018-09-25 Univ Pennsylvania Un metodo para detectar y/o identificar secuencias del virus adeno-asociado y aislamiento de secuencias novedosas identificadas de ese modo.
PT1453547T (pt) 2001-12-17 2016-12-28 Univ Pennsylvania Sequências do vírus adeno-associado (aav) do serotipo 8, vetores contendo as mesmas, e utilizações destas
EP2434420A3 (en) 2003-08-01 2012-07-25 Dna Twopointo Inc. Systems and methods for biopolymer engineering
US8005620B2 (en) 2003-08-01 2011-08-23 Dna Twopointo Inc. Systems and methods for biopolymer engineering
EP2345731B1 (en) 2003-09-30 2015-10-21 The Trustees of the University of Pennsylvania Adeno-associated virus (AAV) clades, sequences, vectors containing same, and uses thereof
ES2525067T3 (es) 2005-04-07 2014-12-17 The Trustees Of The University Of Pennsylvania Método de incremento de la función de un vector de AAV
JP4495210B2 (ja) 2005-06-09 2010-06-30 パナソニック株式会社 振幅誤差補償装置及び直交度誤差補償装置
US7588772B2 (en) 2006-03-30 2009-09-15 Board Of Trustees Of The Leland Stamford Junior University AAV capsid library and AAV capsid proteins
EP3269395A1 (en) 2008-11-07 2018-01-17 Massachusetts Institute Of Technology Aminoalcohol lipidoids and uses thereof
US8734809B2 (en) 2009-05-28 2014-05-27 University Of Massachusetts AAV's and uses thereof
ES2528494T3 (es) 2009-09-03 2015-02-10 Evonik Röhm Gmbh Forma de dosificación oral que comprende al menos un agente biológicamente activo, sustancias auxiliares de formulación y partículas magnetizables
WO2011126808A2 (en) 2010-03-29 2011-10-13 The Trustees Of The University Of Pennsylvania Pharmacologically induced transgene ablation system
US8927514B2 (en) 2010-04-30 2015-01-06 City Of Hope Recombinant adeno-associated vectors for targeted treatment
RU2013154295A (ru) 2011-06-08 2015-07-20 Шир Хьюман Дженетик Терапис, Инк. КОМПОЗИЦИИ ЛИПИДНЫХ НАНОЧАСТИЦ И СПОСОБЫ ДЛЯ ДОСТАВКИ мРНК
US20150126589A1 (en) 2012-06-08 2015-05-07 Ethris Gmbh Pulmonary Delivery of Messenger RNA
AU2014235096B2 (en) 2013-03-15 2020-03-19 The Trustees Of The University Of Pennsylvania Compositions and methods for treating MPSI
WO2015012924A2 (en) 2013-04-29 2015-01-29 The Trustees Of The University Of Pennsylvania Tissue preferential codon modified expression cassettes, vectors containing same, and use thereof
AU2015320694B2 (en) 2014-09-24 2021-11-11 City Of Hope Adeno-associated virus vector variants for high efficiency genome editing and methods thereof
US20170051267A1 (en) * 2015-08-20 2017-02-23 Research Foundation Of The City University Of New York Novel alpha-galactosidase a derivatives
EP3387138B1 (en) 2015-12-11 2022-01-26 The Trustees Of The University Of Pennsylvania Scalable purification method for aav9
CA3012195A1 (en) 2016-02-03 2017-08-10 The Trustees Of The University Of Pennsylvania Gene therapy for treating mucopolysaccharidosis type i
WO2018046774A1 (en) 2016-09-12 2018-03-15 Genethon Acid-alpha glucosidase variants and uses thereof
PT3589730T (pt) 2017-02-28 2024-02-28 Univ Pennsylvania Vetor de vírus adenoassociado (aav) de clado f e suas utilizações
US12070702B2 (en) 2018-06-14 2024-08-27 Regenxbio Inc. Anion exchange chromatography for recombinant AAV production
WO2021158915A1 (en) 2020-02-06 2021-08-12 Precision Biosciences, Inc. Recombinant adeno-associated virus compositions and methods for producing and using the same
EP3868886A1 (en) 2020-02-21 2021-08-25 Bia Separations D.O.O. A method for separation or depletion of empty aav capsids from full aav capsids
EP4103211A4 (en) * 2020-04-27 2023-08-23 4D Molecular Therapeutics Inc. CODON-OPTIMISED GLA GENES AND THEIR USES

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2020077114A2 (en) * 2018-10-10 2020-04-16 Amicus Therapeutics, Inc. Disulfide bond stabilized polypeptide compositions and methods of use
WO2020132455A1 (en) * 2018-12-21 2020-06-25 The Trustees Of The University Of Pennsylvania Compositions for drg-specific reduction of transgene expression
WO2020142752A1 (en) * 2019-01-04 2020-07-09 Sangamo Therapeutics, Inc. Methods and compositions for the treatment of fabry disease

Also Published As

Publication number Publication date
EP4225906A1 (en) 2023-08-16
AU2021356684A1 (en) 2023-05-11
US20230365955A1 (en) 2023-11-16
TW202229560A (zh) 2022-08-01
WO2022076803A1 (en) 2022-04-14
WO2022076803A8 (en) 2022-06-09
CA3193833A1 (en) 2022-04-14
KR20230118075A (ko) 2023-08-10

Similar Documents

Publication Publication Date Title
JP2023545433A (ja) ファブリー病の治療のための組成物及び方法
US12023386B2 (en) Composition for treatment of Crigler-Najjar syndrome
US20260049335A1 (en) Recombinant adeno-associated virus for treatment of grn-associated adult-onset neurodegeneration
JP7384797B2 (ja) ムコ多糖症ｉｉｉｂ型のための遺伝子療法
US20220193261A1 (en) Compositions useful for treatment of pompe disease
US12594327B2 (en) Compositions useful for treating GM1 gangliosidosis
JP2025032175A (ja) クラッベ病の治療に有用な組成物
US20230173108A1 (en) Compositions useful for treatment of pompe disease
US20230190966A1 (en) Compositions useful for treating gm1 gangliosidosis
US20240408157A1 (en) Compositions and methods for treatment of fabry disease
US20240115733A1 (en) Compositions and methods for treatment of niemann pick type a disease
CN116669774A (zh) 用于治疗法布里病的组合物和方法

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20241002

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20241002

A977 Report on retrieval

Free format text: JAPANESE INTERMEDIATE CODE: A971007

Effective date: 20250908

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20250910

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20251210

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20260128

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20260309