TW202028472A - 用於治療丙酸血症之基因療法 - Google Patents

用於治療丙酸血症之基因療法 Download PDF

Info

Publication number
TW202028472A
TW202028472A TW108135582A TW108135582A TW202028472A TW 202028472 A TW202028472 A TW 202028472A TW 108135582 A TW108135582 A TW 108135582A TW 108135582 A TW108135582 A TW 108135582A TW 202028472 A TW202028472 A TW 202028472A
Authority
TW
Taiwan
Prior art keywords
sequence
raav
pcca
pccb
seq
Prior art date
Application number
TW108135582A
Other languages
English (en)
Chinese (zh)
Inventor
馬修 富勒
塞繆爾 沃茲沃思
凱利 瑞德 克拉克
尚恩 多爾帝
斯圖爾特 克雷格
Original Assignee
美商奧崔基尼克斯製藥公司
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 美商奧崔基尼克斯製藥公司 filed Critical 美商奧崔基尼克斯製藥公司
Publication of TW202028472A publication Critical patent/TW202028472A/zh

Links

Images

Classifications

    • 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
    • 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
    • A61K38/53—Ligases (6)
    • 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
    • A61K48/0091—Purification or manufacturing processes for gene therapy compositions
    • 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
    • C12N9/93—Ligases (6)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y604/00—Ligases forming carbon-carbon bonds (6.4)
    • C12Y604/01—Ligases forming carbon-carbon bonds (6.4.1)
    • C12Y604/01003—Propionyl-CoA carboxylase (6.4.1.3)
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/07—Animals genetically altered by homologous recombination
    • A01K2217/072—Animals genetically altered by homologous recombination maintaining or altering function, i.e. knock in
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00—Animals characterised by species
    • A01K2227/10—Mammal
    • A01K2227/105—Murine
    • 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
    • C12N2800/00—Nucleic acids vectors
    • C12N2800/22—Vectors comprising a coding region that has been codon optimised for expression in a respective host
    • 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
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Biomedical Technology (AREA)
  • Biochemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Microbiology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Epidemiology (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Manufacturing & Machinery (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicinal Preparation (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
TW108135582A 2018-10-01 2019-10-01 用於治療丙酸血症之基因療法 TW202028472A (zh)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201862739471P 2018-10-01 2018-10-01
US62/739,471 2018-10-01

Publications (1)

Publication Number Publication Date
TW202028472A true TW202028472A (zh) 2020-08-01

Family

ID=70055045

Family Applications (1)

Application Number Title Priority Date Filing Date
TW108135582A TW202028472A (zh) 2018-10-01 2019-10-01 用於治療丙酸血症之基因療法

Country Status (11)

Country Link
US (2) US12472268B2 (https=)
EP (1) EP3861131A4 (https=)
JP (1) JP2022513318A (https=)
KR (1) KR20210082460A (https=)
CN (1) CN112955557A (https=)
AR (1) AR116569A1 (https=)
AU (1) AU2019354296A1 (https=)
BR (1) BR112021006052A2 (https=)
CA (1) CA3113975A1 (https=)
TW (1) TW202028472A (https=)
WO (1) WO2020072451A1 (https=)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3990029A1 (en) * 2019-06-27 2022-05-04 The United States of America, as represented by the Secretary, Department of Health and Human Services Synthetic genes for the treatment of propionic acidemia caused by mutations in propionyl-coa carboxylase alpha
WO2021076797A1 (en) * 2019-10-15 2021-04-22 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Synthetic genes for the treatment of propionic acidemia caused by mutations in propionyl-coa carboxylase beta
WO2021202532A1 (en) 2020-03-31 2021-10-07 Ultragenyx Pharmaceutical Inc. Gene therapy for treating propionic acidemia
EP4308174A4 (en) * 2021-03-19 2025-07-30 Mayo Found Medical Education & Res METHODS AND MATERIALS FOR THE TREATMENT OF PROPIONIC ACIDEMIA
WO2023130003A2 (en) * 2021-12-29 2023-07-06 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Improved gene therapy constructs for the treatment of propionic acidemia caused by mutations in propionyl-coa carboxylase alpha
CN118166004B (zh) * 2024-05-14 2024-12-03 北京剂泰医药科技有限公司 用于编码人PCCA或PCCB蛋白的mRNA及其用途

Family Cites Families (41)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
NZ532635A (en) 2001-11-13 2007-05-31 Univ Pennsylvania A method of identifying unknown adeno-associated virus (AAV) sequences and a kit for the method
DK2359869T3 (en) * 2001-12-17 2019-04-15 Univ Pennsylvania Sequences of adeno-associated virus (AAV) serotype 8, vectors containing these, and uses thereof
SI3235827T1 (sl) 2003-06-19 2021-05-31 Genzyme Corporation AAV virioni z zmanjšano imunoreaktivnostjo in uporaba za ta namen
US9441244B2 (en) 2003-06-30 2016-09-13 The Regents Of The University Of California Mutant adeno-associated virus virions and methods of use thereof
CN1856576B (zh) 2003-09-30 2011-05-04 宾夕法尼亚州立大学托管会 腺伴随病毒(aav)进化支、序列、含有这些序列的载体及它们的应用
WO2006110689A2 (en) 2005-04-07 2006-10-19 The Trustees Of The University Of Pennsylvania Method of increasing the function of an aav vector
US9611302B2 (en) 2007-04-09 2017-04-04 University Of Florida Research Foundation, Inc. High-transduction-efficiency RAAV vectors, compositions, and methods of use
DK2191001T3 (en) 2007-04-09 2016-09-19 Univ Florida RAAV VECTOR COMPOSITIONS WITH TYROSIN MODIFIED CAPSIDE PROTEINS AND PROCEDURES FOR USE THEREOF
US9725485B2 (en) 2012-05-15 2017-08-08 University Of Florida Research Foundation, Inc. AAV vectors with high transduction efficiency and uses thereof for gene therapy
WO2010138263A2 (en) 2009-05-28 2010-12-02 University Of Massachusetts Novel aav 's and uses thereof
US8927514B2 (en) 2010-04-30 2015-01-06 City Of Hope Recombinant adeno-associated vectors for targeted treatment
ES2685611T3 (es) 2011-02-14 2018-10-10 The Children's Hospital Of Philadelphia Vector VAA8 mejorado con una actividad funcional aumentada y métodos de utilización del mismo
HRP20171334T1 (hr) 2011-04-22 2017-11-17 The Regents Of The University Of California Virioni adeno-povezanog virusa s kapsid varijantom i postupci njihove upotrebe
AU2013249202B2 (en) 2012-04-18 2018-08-09 The Children's Hospital Of Philadelphia Composition and methods for highly efficient gene transfer using AAV capsid variants
US10294281B2 (en) 2012-05-15 2019-05-21 University Of Florida Research Foundation, Incorporated High-transduction-efficiency rAAV vectors, compositions, and methods of use
US10266845B2 (en) 2013-02-08 2019-04-23 The Trustees Of The University Of Pennsylvania Enhanced AAV-mediated gene transfer for retinal therapies
US20140303901A1 (en) * 2013-04-08 2014-10-09 Ilan Sadeh Method and system for predicting a disease
WO2014172627A1 (en) * 2013-04-19 2014-10-23 Thomas Jefferson University Caveolin-1 related methods for treating glioblastoma with temozolomide
US9585971B2 (en) 2013-09-13 2017-03-07 California Institute Of Technology Recombinant AAV capsid protein
BR112017005892A2 (pt) 2014-09-24 2017-12-12 Hope City variantes de vetor de vírus adeno-associado para edição de genoma de alta eficácia e métodos da mesma
US10081659B2 (en) 2015-04-06 2018-09-25 The United States Of America, As Represented By The Secretary, Dept. Of Health And Human Services Adeno-associated vectors for enhanced transduction and reduced immunogenicity
WO2016179138A1 (en) * 2015-05-03 2016-11-10 The Regents Of The University Of Colorado Propionyl-coa carboxylase compositions and uses thereof
WO2016186772A2 (en) 2015-05-16 2016-11-24 Genzyme Corporation Gene editing of deep intronic mutations
CA3002524A1 (en) * 2015-10-28 2017-05-04 Sangamo Therapeutics, Inc. Liver-specific constructs, factor viii expression cassettes and methods of use thereof
US10385320B2 (en) 2015-12-02 2019-08-20 The Board Of Trustees Of The Leland Stanford Junior University Recombinant adeno-associated virus capsids with enhanced human skeletal muscle tropism
US10179176B2 (en) 2016-02-16 2019-01-15 The Board Of Trustees Of The Leland Stanford Junior University Recombinant adeno-associated virus capsids resistant to pre-existing human neutralizing antibodies
WO2017165859A1 (en) 2016-03-24 2017-09-28 Research Institute At Nationwide Children's Hospital Modified viral capsid proteins
MX2018011928A (es) * 2016-03-30 2019-03-28 Spark Therapeutics Inc Linea celular para produccion de proteina recombinante y/o vector viral.
EP3442597A1 (en) * 2016-04-15 2019-02-20 The Trustees Of The University Of Pennsylvania Gene therapy for treating hemophilia b
WO2017180854A1 (en) 2016-04-15 2017-10-19 The Trustees Of The University Of Pennsylvania Novel aav8 mutant capsids and compositions containing same
WO2017192761A1 (en) * 2016-05-03 2017-11-09 The Regents Of The University Of Colorado, A Body Corporate Propionyl-coa carboxylase compositions and uses thereof
EP3452101A2 (en) * 2016-05-04 2019-03-13 CureVac AG Rna encoding a therapeutic protein
EP3827812B1 (en) 2016-07-29 2025-10-29 The Regents of the University of California Adeno-associated virus virions with variant capsid and methods of use thereof
MX2019007873A (es) 2016-12-30 2019-11-18 Univ Pennsylvania Terapia génica para tratar la enfermedad de wilson.
KR102738752B1 (ko) 2016-12-30 2024-12-06 더 트러스티스 오브 더 유니버시티 오브 펜실베니아 페닐케톤뇨증을 치료하기 위한 유전자 치료
WO2018144709A2 (en) 2017-02-01 2018-08-09 The Trustees Of The University Of Pennsylvania Gene therapy for treating citrullenemia
AU2018224044B2 (en) 2017-02-21 2024-01-25 The Uab Research Foundation Modified AAV capsid proteins and uses thereof
WO2018222503A1 (en) 2017-05-31 2018-12-06 The Regents Of The University Of California Adeno-associated virus with variant capsid and methods of use thereof
CA3065946A1 (en) 2017-06-05 2018-12-13 Research Institute At Nationwide Children's Hospital Enhanced modified viral capsid proteins
IL276859B2 (en) 2018-02-27 2025-12-01 Univ Pennsylvania Novel adeno-associated virus (aav) vectors, aav vectors having reduced capsid deamidation and uses therefor
WO2021202532A1 (en) 2020-03-31 2021-10-07 Ultragenyx Pharmaceutical Inc. Gene therapy for treating propionic acidemia

Also Published As

Publication number Publication date
US12472268B2 (en) 2025-11-18
JP2022513318A (ja) 2022-02-07
KR20210082460A (ko) 2021-07-05
US20210283272A1 (en) 2021-09-16
AU2019354296A1 (en) 2021-04-29
WO2020072451A1 (en) 2020-04-09
EP3861131A1 (en) 2021-08-11
CN112955557A (zh) 2021-06-11
CA3113975A1 (en) 2020-04-09
EP3861131A4 (en) 2022-06-15
BR112021006052A2 (pt) 2021-09-08
WO2020072451A8 (en) 2021-05-14
AR116569A1 (es) 2021-05-19
US20260041788A1 (en) 2026-02-12

Similar Documents

Publication Publication Date Title
TW202028472A (zh) 用於治療丙酸血症之基因療法
TWI848038B (zh) 用於治療威爾森氏症之基因療法構築體
CN110606874B (zh) 用于基因转移到细胞、器官和组织中的变异aav和组合物、方法及用途
US20170067028A1 (en) Radiolabeling of adeno associated virus
CN105612253A (zh) 含有填充者/填充物多核苷酸序列的载体及其制备方法
JP2023514204A (ja) Ｃｄｋｌ５欠損障害を処置するための遺伝子治療
CA3007330A1 (en) Composition for treatment of crigler-najjar syndrome
US20230235353A1 (en) Compositions and methods for reducing reverse packaging of cap and rep sequences in recombinant aav
KR20240162557A (ko) 증가된 심장 풍부화를 갖는 아데노-연관 바이러스 조성물
US20230129893A1 (en) Gene therapy for treating propionic acidemia
WO2021129624A1 (zh) 一种分离的核酸分子及其应用
EP3898981B1 (en) Methods and compositions for treating glycogen storage diseases
EP4428237A1 (en) Isolated nucleic acid molecule and use thereof
EP4328313A1 (en) Adeno-associated virus virion for treating ornithine transcarbamylase deficiency
HK40110686A (en) Isolated nucleic acid molecule and use thereof