KR102665348B1 - 지혈 장애의 치료를 위한 변이체 인자 viii의 패키징 및 발현을 위한 개선된 발현 카세트 - Google Patents

지혈 장애의 치료를 위한 변이체 인자 viii의 패키징 및 발현을 위한 개선된 발현 카세트 Download PDF

Info

Publication number
KR102665348B1
KR102665348B1 KR1020177006818A KR20177006818A KR102665348B1 KR 102665348 B1 KR102665348 B1 KR 102665348B1 KR 1020177006818 A KR1020177006818 A KR 1020177006818A KR 20177006818 A KR20177006818 A KR 20177006818A KR 102665348 B1 KR102665348 B1 KR 102665348B1
Authority
KR
South Korea
Prior art keywords
fviii
nucleic acid
acid variant
encoding
aav
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.)
Active
Application number
KR1020177006818A
Other languages
English (en)
Korean (ko)
Other versions
KR20170084012A (ko
Inventor
데니스 사바티노
캐서린 에이. 하이
리론 엘코우비
Original Assignee
더 칠드런스 호스피탈 오브 필라델피아
데니스 사바티노
캐서린 에이. 하이
리론 엘코우비
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 더 칠드런스 호스피탈 오브 필라델피아, 데니스 사바티노, 캐서린 에이. 하이, 리론 엘코우비 filed Critical 더 칠드런스 호스피탈 오브 필라델피아
Publication of KR20170084012A publication Critical patent/KR20170084012A/ko
Application granted granted Critical
Publication of KR102665348B1 publication Critical patent/KR102665348B1/ko
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • 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
    • C07K14/745—Blood coagulation or fibrinolysis factors
    • C07K14/755—Factors VIII, e.g. factor VIII C (AHF), factor VIII Ag (VWF)
    • 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
    • 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
    • A61K48/0066—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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P17/00—Drugs for dermatological disorders
    • A61P17/02—Drugs for dermatological disorders for treating wounds, ulcers, burns, scars, keloids, or the like
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P7/00—Drugs for disorders of the blood or the extracellular fluid
    • A61P7/02—Antithrombotic agents; Anticoagulants; Platelet aggregation inhibitors
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P7/00—Drugs for disorders of the blood or the extracellular fluid
    • A61P7/04—Antihaemorrhagics; Procoagulants; Haemostatic agents; Antifibrinolytic agents
    • 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
    • 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
    • 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
    • C12N2840/00—Vectors comprising a special translation-regulating system
    • C12N2840/007—Vectors comprising a special translation-regulating system cell or tissue specific

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Epidemiology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Hematology (AREA)
  • Biophysics (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biomedical Technology (AREA)
  • Wood Science & Technology (AREA)
  • Diabetes (AREA)
  • Microbiology (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Cardiology (AREA)
  • Heart & Thoracic Surgery (AREA)
  • Dermatology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
KR1020177006818A 2014-08-13 2015-08-13 지혈 장애의 치료를 위한 변이체 인자 viii의 패키징 및 발현을 위한 개선된 발현 카세트 Active KR102665348B1 (ko)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201462036936P 2014-08-13 2014-08-13
US62/036,936 2014-08-13
PCT/US2015/045142 WO2016025764A2 (en) 2014-08-13 2015-08-13 An improved expression cassette for packaging and expression of variant factor viii for the treatment of hemostasis disorders

Publications (2)

Publication Number Publication Date
KR20170084012A KR20170084012A (ko) 2017-07-19
KR102665348B1 true KR102665348B1 (ko) 2024-05-16

Family

ID=55304765

Family Applications (1)

Application Number Title Priority Date Filing Date
KR1020177006818A Active KR102665348B1 (ko) 2014-08-13 2015-08-13 지혈 장애의 치료를 위한 변이체 인자 viii의 패키징 및 발현을 위한 개선된 발현 카세트

Country Status (12)

Country Link
US (1) US11014975B2 (enExample)
EP (1) EP3180022B1 (enExample)
JP (2) JP2018506261A (enExample)
KR (1) KR102665348B1 (enExample)
CN (1) CN107427557B (enExample)
AU (1) AU2015301598B2 (enExample)
CA (2) CA3237630A1 (enExample)
ES (1) ES2993915T3 (enExample)
SA (1) SA517380883B1 (enExample)
SG (1) SG11201701033QA (enExample)
WO (1) WO2016025764A2 (enExample)
ZA (1) ZA201701039B (enExample)

Families Citing this family (21)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10058624B2 (en) * 2015-04-16 2018-08-28 Emory University Recombinant promoters and vectors for protein expression in liver and use thereof
AU2016260401B2 (en) * 2015-05-14 2022-05-19 St. Jude Children's Research Hospital, Inc. Nucleic acid molecules containing spacers and methods of use thereof
WO2017066579A1 (en) 2015-10-14 2017-04-20 Audentes Therapeutics, Inc. Nucleic acid molecules containing spacers and methods of use thereof
PE20231949A1 (es) * 2015-10-30 2023-12-05 Spark Therapeutics Inc VARIANTES DEL FACTOR VIII REDUCIDO CON CpG, COMPOSICIONES Y METODOS Y USOS PARA EL TRATAMIENTO DE TRASTORNOS DE LA HEMOSTASIA
CN116949052A (zh) 2015-11-13 2023-10-27 武田药品工业株式会社 用于血友病a的基因治疗的具有增加的表达的编码重组fviii变体的病毒载体
EA036944B1 (ru) 2015-11-13 2021-01-19 Баксалта Инкорпорейтед Вирусные векторы, кодирующие рекомбинантные варианты fviii с повышенной экспрессией для генной терапии гемофилии a
WO2018102743A1 (en) 2016-12-02 2018-06-07 Bioverativ Therapeutics Inc. Methods of treating hemophilic arthropathy using chimeric clotting factors
WO2019028192A1 (en) * 2017-08-01 2019-02-07 Spark Therapeutics, Inc. METHODS OF GENE THERAPY TARGETING FACTOR VIII (FVIII)
US20210093735A1 (en) * 2018-04-26 2021-04-01 The University Of North Carolina At Chapel Hill Methods and compositions for treatment of hemophilia
RS66972B1 (sr) 2018-05-18 2025-07-31 Bioverativ Therapeutics Inc Metode lečenja hemofilije a
CN108795986A (zh) * 2018-05-31 2018-11-13 深圳市免疫基因治疗研究院 一种a型血友病慢病毒载体、慢病毒及其制备方法和应用
KR20210034013A (ko) 2018-07-16 2021-03-29 박스알타 인코퍼레이티드 발현이 증가된 재조합 fviii 변이체들을 인코딩하는 바이러스 벡터를 이용한 혈우병의 유전적 치료법
TWI851647B (zh) 2019-01-16 2024-08-11 日商武田藥品工業股份有限公司 用於a型血友病基因治療之編碼表現增加之重組fviii變異體的病毒載體
EP3736286A1 (en) * 2019-05-09 2020-11-11 Biotest AG Single chain factor viii molecule
CN111218446B (zh) * 2019-12-25 2023-03-28 劲帆生物医药科技（武汉）有限公司 一种肝脏特异性启动子及其应用
US20250101465A1 (en) * 2021-05-11 2025-03-27 City Of Hope Adeno-associated virus compositions and methods of use thereof
CN119233998A (zh) * 2022-07-07 2024-12-31 深圳新诺微环生物科技有限公司 一种连接肽、包含连接肽的凝血八因子蛋白或其变体及其用途
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
CN118715025A (zh) * 2022-10-08 2024-09-27 凌意(杭州)生物科技有限公司 用于增强基因表达的构建体
CN115873099B (zh) * 2022-12-30 2023-10-20 福因医药科技(武汉)有限公司 一种改造的重组凝血因子viii及其应用
CN116715752B (zh) * 2023-06-16 2024-11-15 苏州诺洁贝生物技术有限公司 凝血因子fviii蛋白变体、表达载体和用途

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2011005968A1 (en) * 2009-07-08 2011-01-13 Ucl Business Plc Codon-optimized factor vi i i variants and synthetic liver-specific promoter
WO2011041770A1 (en) 2009-10-02 2011-04-07 The Children's Hospital Of Philadelphia Compositions and methods for enhancing coagulation factor viii function
WO2014064277A1 (en) * 2012-10-26 2014-05-01 Vrije Universiteit Brussel Vector for liver-directed gene therapy of hemophilia and methods and use thereof

Family Cites Families (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6114148C1 (en) 1996-09-20 2012-05-01 Gen Hospital Corp High level expression of proteins
US6924365B1 (en) * 1998-09-29 2005-08-02 Transkaryotic Therapies, Inc. Optimized messenger RNA
US6221349B1 (en) * 1998-10-20 2001-04-24 Avigen, Inc. Adeno-associated vectors for expression of factor VIII by target cells
EP2357010B1 (en) * 2005-04-07 2013-06-12 The Trustees of The University of Pennsylvania Method of increasing the function of an AAV vector
ES2535877T3 (es) * 2006-06-19 2015-05-18 Asklepios Biopharmaceutical, Inc. Genes de Factor VIII y Factor IX modificados y vectores para la terapia génica
US20120028900A1 (en) * 2006-06-30 2012-02-02 Kaufman Randal J Method of producing factor viii proteins by recombinant methods
CN101597616A (zh) * 2008-06-04 2009-12-09 上海同科生物科技有限公司 一种提高基因重组人凝血因子ⅷ表达量的方法
AU2013202564B2 (en) * 2008-06-24 2015-09-17 Csl Behring Gmbh Factor VIII, von Willebrand factor or complexes thereof with prolonged in vivo half-life
WO2014008480A2 (en) * 2012-07-06 2014-01-09 Biogen Idec Ma Inc. Cell line expressing single chain factor viii polypeptides and uses thereof
LT2956477T (lt) * 2013-02-15 2021-02-10 Bioverativ Therapeutics Inc. Optimizuotas faktoriaus viii genas

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2011005968A1 (en) * 2009-07-08 2011-01-13 Ucl Business Plc Codon-optimized factor vi i i variants and synthetic liver-specific promoter
WO2011041770A1 (en) 2009-10-02 2011-04-07 The Children's Hospital Of Philadelphia Compositions and methods for enhancing coagulation factor viii function
US20120308641A1 (en) 2009-10-02 2012-12-06 Valder Arruda Compositions and Methods for Enhancing Coagulation Factor VIII Function
WO2014064277A1 (en) * 2012-10-26 2014-05-01 Vrije Universiteit Brussel Vector for liver-directed gene therapy of hemophilia and methods and use thereof

Also Published As

Publication number Publication date
CA3237630A1 (en) 2016-02-18
EP3180022B1 (en) 2024-07-03
BR112017002781A2 (pt) 2017-12-19
JP2021003120A (ja) 2021-01-14
SG11201701033QA (en) 2017-03-30
AU2015301598A1 (en) 2017-03-23
ES2993915T3 (en) 2025-01-13
WO2016025764A2 (en) 2016-02-18
WO2016025764A3 (en) 2016-04-07
CN107427557B (zh) 2022-01-04
CN107427557A (zh) 2017-12-01
AU2015301598B2 (en) 2020-07-16
NZ729107A (en) 2024-07-26
ZA201701039B (en) 2021-08-25
JP2018506261A (ja) 2018-03-08
US20170233456A1 (en) 2017-08-17
KR20170084012A (ko) 2017-07-19
US11014975B2 (en) 2021-05-25
CA2958141C (en) 2024-06-11
JP7237903B2 (ja) 2023-03-13
SA517380883B1 (ar) 2021-12-18
CA2958141A1 (en) 2016-02-18
EP3180022A2 (en) 2017-06-21
EP3180022A4 (en) 2019-02-20

Similar Documents

Publication Publication Date Title
KR102665348B1 (ko) 지혈 장애의 치료를 위한 변이체 인자 viii의 패키징 및 발현을 위한 개선된 발현 카세트
US11491213B2 (en) Modified factor IX, and compositions, methods and uses for gene transfer to cells, organs, and tissues
JP2022137029A (ja) ＣｐＧ減少第ＶＩＩＩ因子変種、組成物並びに止血障害の処置のための方法及び使用
WO2019028192A1 (en) METHODS OF GENE THERAPY TARGETING FACTOR VIII (FVIII)
US11998618B2 (en) Frataxin expression constructs
KR20220009950A (ko) 효소 발현의 조절 및 자가-불활성화를 위한 조성물 그리고 효소의 오프-타깃 활동성의 조정 방법
US20190144524A1 (en) Factor viii variants, nucleic acid sequences, and methods and uses for treatment of hemostasis disorders
BR112017002781B1 (pt) Variante de ácido nucleico codificando o fator viii, seu uso, vetor de expressão, vetor viral, vetor aav, célula hospedeira in vitro e composição farmacêutica
WO2022094493A2 (en) Clotting factor variants and their use

Legal Events

Date Code Title Description
PA0105 International application

St.27 status event code: A-0-1-A10-A15-nap-PA0105

T11-X000 Administrative time limit extension requested

St.27 status event code: U-3-3-T10-T11-oth-X000

T11-X000 Administrative time limit extension requested

St.27 status event code: U-3-3-T10-T11-oth-X000

P11-X000 Amendment of application requested

St.27 status event code: A-2-2-P10-P11-nap-X000

P13-X000 Application amended

St.27 status event code: A-2-2-P10-P13-nap-X000

R18-X000 Changes to party contact information recorded

St.27 status event code: A-3-3-R10-R18-oth-X000

P11-X000 Amendment of application requested

St.27 status event code: A-2-2-P10-P11-nap-X000

P13-X000 Application amended

St.27 status event code: A-2-2-P10-P13-nap-X000

PG1501 Laying open of application

St.27 status event code: A-1-1-Q10-Q12-nap-PG1501

AMND Amendment
E13-X000 Pre-grant limitation requested

St.27 status event code: A-2-3-E10-E13-lim-X000

P11-X000 Amendment of application requested

St.27 status event code: A-2-2-P10-P11-nap-X000

P13-X000 Application amended

St.27 status event code: A-2-2-P10-P13-nap-X000

PA0201 Request for examination

St.27 status event code: A-1-2-D10-D11-exm-PA0201

PE0902 Notice of grounds for rejection

St.27 status event code: A-1-2-D10-D21-exm-PE0902

T11-X000 Administrative time limit extension requested

St.27 status event code: U-3-3-T10-T11-oth-X000

AMND Amendment
P11-X000 Amendment of application requested

St.27 status event code: A-2-2-P10-P11-nap-X000

P13-X000 Application amended

St.27 status event code: A-2-2-P10-P13-nap-X000

E601 Decision to refuse application
PE0601 Decision on rejection of patent

St.27 status event code: N-2-6-B10-B15-exm-PE0601

T11-X000 Administrative time limit extension requested

St.27 status event code: U-3-3-T10-T11-oth-X000

T13-X000 Administrative time limit extension granted

St.27 status event code: U-3-3-T10-T13-oth-X000

T13-X000 Administrative time limit extension granted

St.27 status event code: U-3-3-T10-T13-oth-X000

AMND Amendment
E13-X000 Pre-grant limitation requested

St.27 status event code: A-2-3-E10-E13-lim-X000

P11-X000 Amendment of application requested

St.27 status event code: A-2-2-P10-P11-nap-X000

P13-X000 Application amended

St.27 status event code: A-2-2-P10-P13-nap-X000

PX0901 Re-examination

St.27 status event code: A-2-3-E10-E12-rex-PX0901

PX0701 Decision of registration after re-examination

St.27 status event code: A-3-4-F10-F13-rex-PX0701

X701 Decision to grant (after re-examination)
R17-X000 Change to representative recorded

St.27 status event code: A-3-3-R10-R17-oth-X000

R17-X000 Change to representative recorded

St.27 status event code: A-3-3-R10-R17-oth-X000

GRNT Written decision to grant
PR0701 Registration of establishment

St.27 status event code: A-2-4-F10-F11-exm-PR0701

PR1002 Payment of registration fee

St.27 status event code: A-2-2-U10-U12-oth-PR1002

Fee payment year number: 1

PG1601 Publication of registration

St.27 status event code: A-4-4-Q10-Q13-nap-PG1601