CA3113975A1 - Gene therapy for treating propionic acidemia - Google Patents

Gene therapy for treating propionic acidemia Download PDF

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Publication number
CA3113975A1
CA3113975A1 CA3113975A CA3113975A CA3113975A1 CA 3113975 A1 CA3113975 A1 CA 3113975A1 CA 3113975 A CA3113975 A CA 3113975A CA 3113975 A CA3113975 A CA 3113975A CA 3113975 A1 CA3113975 A1 CA 3113975A1
Authority
CA
Canada
Prior art keywords
sequence
raav
pcca
pccb
seq
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
CA3113975A
Other languages
English (en)
French (fr)
Inventor
Matthew Scott FULLER
Samuel Wadsworth
Kelly Reed Clark
Sean Christopher DAUGHERTY
Stewart Craig
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Ultragenyx Pharmaceutical Inc
Original Assignee
Ultragenyx Pharmaceutical Inc
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 Ultragenyx Pharmaceutical Inc filed Critical Ultragenyx Pharmaceutical Inc
Publication of CA3113975A1 publication Critical patent/CA3113975A1/en
Pending legal-status Critical Current

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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)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Manufacturing & Machinery (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • 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)
  • Medicinal Preparation (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
CA3113975A 2018-10-01 2019-10-01 Gene therapy for treating propionic acidemia Pending CA3113975A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201862739471P 2018-10-01 2018-10-01
US62/739,471 2018-10-01
PCT/US2019/054003 WO2020072451A1 (en) 2018-10-01 2019-10-01 Gene therapy for treating propionic acidemia

Publications (1)

Publication Number Publication Date
CA3113975A1 true CA3113975A1 (en) 2020-04-09

Family

ID=70055045

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3113975A Pending CA3113975A1 (en) 2018-10-01 2019-10-01 Gene therapy for treating propionic acidemia

Country Status (11)

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

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2020264353A1 (en) * 2019-06-27 2020-12-30 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
US20220325266A1 (en) * 2019-10-15 2022-10-13 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
US20230129893A1 (en) 2020-03-31 2023-04-27 Ultragenyx Pharmaceutical Inc. Gene therapy for treating propionic acidemia
US20240175050A1 (en) * 2021-03-19 2024-05-30 Mayo Foundation For Medical Education And Research Methods and materials for treating propionic acidemia
EP4457351A2 (en) * 2021-12-29 2024-11-06 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
SG10202108118RA (en) 2001-11-13 2021-08-30 Univ Pennsylvania A method of detecting and/or identifying adeno-associated virus (aav) sequences and isolating novel sequences identified thereby
ES2975413T3 (es) * 2001-12-17 2024-07-05 Univ Pennsylvania Secuencias de serotipo 8 de virus adenoasociado (AAV), vectores que las contienen y usos de las mismas
PL2357189T3 (pl) 2003-06-19 2017-08-31 Genzyme Corporation Wiriony AAV o zmniejszonej immunoreaktywności i ich zastosowanie
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
HUE054805T2 (hu) 2003-09-30 2021-09-28 Univ Pennsylvania Adeno-asszociált vírus (AAV) kládok, szekvenciák, az azokat tartalmazó vektorok és alkalmazásaik
EP3085389A1 (en) 2005-04-07 2016-10-26 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
HUE030719T2 (en) 2007-04-09 2017-05-29 Univ Florida Raav vector compositions having tyrosine-modified capsid proteins and methods for use
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
US10392632B2 (en) 2011-02-14 2019-08-27 The Children's Hospital Of Philadelphia AAV8 vector with enhanced functional activity and methods of use thereof
CN107012171B (zh) 2011-04-22 2021-07-13 加利福尼亚大学董事会 具有变异衣壳的腺相关病毒病毒体及其使用方法
JP6342886B2 (ja) 2012-04-18 2018-06-13 ザ・チルドレンズ・ホスピタル・オブ・フィラデルフィアＴｈｅ Ｃｈｉｌｄｒｅｎ’Ｓ Ｈｏｓｐｉｔａｌ Ｏｆ Ｐｈｉｌａｄｅｌｐｈｉａ Ａａｖカプシドバリアントを使用した高効率な遺伝子導入のための組成物及び方法
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
EP2986290A4 (en) * 2013-04-19 2017-01-04 Thomas Jefferson University Caveolin-1 related methods for treating glioblastoma with temozolomide
EP3564379A1 (en) 2013-09-13 2019-11-06 California Institute of Technology Selective recovery
AU2015320694B2 (en) 2014-09-24 2021-11-11 City Of Hope Adeno-associated virus vector variants for high efficiency genome editing and methods thereof
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
EP3291829A1 (en) * 2015-05-03 2018-03-14 The Regents of the University of Colorado, a body corporate Propionyl-coa carboxylase compositions and uses thereof
RU2021132397A (ru) 2015-05-16 2022-02-24 Джензим Корпорейшн Генное редактирование глубоких интронных мутаций
CN115141836B (zh) * 2015-10-28 2024-08-27 桑格摩生物治疗股份有限公司 肝特异性构建体、因子viii表达盒及其使用方法
WO2017096164A1 (en) 2015-12-02 2017-06-08 The Board Of Trustees Of The Leland Stanford Junior University Novel recombinant adeno-associated virus capsids with enhanced human skeletal muscle tropism
JP6947739B2 (ja) 2016-02-16 2021-10-13 ザ ボード オブ トラスティーズ オブ ザ レランド スタンフォード ジュニア ユニバーシティー 既存のヒト中和抗体に対して耐性である新規組換えアデノ随伴ウイルスカプシド
WO2017165859A1 (en) 2016-03-24 2017-09-28 Research Institute At Nationwide Children's Hospital Modified viral capsid proteins
CA3019126A1 (en) * 2016-03-30 2017-10-05 Spark Therapeutics, Inc. Cell line for recombinant protein and/or viral vector production
CA3019423A1 (en) 2016-04-15 2017-10-19 The Trustees Of The University Of Pennsylvania Novel aav8 mutant capsids and compositions containing same
US11191847B2 (en) * 2016-04-15 2021-12-07 The Trustees Of The University Of Pennsylvania Gene therapy for treating hemophilia B
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
WO2017191274A2 (en) * 2016-05-04 2017-11-09 Curevac Ag Rna encoding a therapeutic protein
EP4700118A3 (en) 2016-07-29 2026-04-22 The Regents of the University of California Adeno-associated virus virions with varint capsid and methods of use thereof
EP3562514B1 (en) 2016-12-30 2026-04-29 The Trustees Of The University Of Pennsylvania Gene therapy for treating wilson's disease
BR112019013576A2 (pt) 2016-12-30 2020-02-04 The Trustees Of The University Of Pennsylvania terapia genica para o tratamento da fenilcetonuria
WO2018144709A2 (en) 2017-02-01 2018-08-09 The Trustees Of The University Of Pennsylvania Gene therapy for treating citrullenemia
CA3114549A1 (en) 2017-02-21 2018-08-30 University Of Florida Research Foundation, Incorporated 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
AU2018280116B2 (en) 2017-06-05 2025-03-27 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
US20230129893A1 (en) 2020-03-31 2023-04-27 Ultragenyx Pharmaceutical Inc. Gene therapy for treating propionic acidemia

Also Published As

Publication number Publication date
US12472268B2 (en) 2025-11-18
US20260041788A1 (en) 2026-02-12
WO2020072451A1 (en) 2020-04-09
TW202028472A (zh) 2020-08-01
WO2020072451A8 (en) 2021-05-14
EP3861131A1 (en) 2021-08-11
AU2019354296A1 (en) 2021-04-29
EP3861131A4 (en) 2022-06-15
CN112955557A (zh) 2021-06-11
US20210283272A1 (en) 2021-09-16
BR112021006052A2 (pt) 2021-09-08
KR20210082460A (ko) 2021-07-05
JP2022513318A (ja) 2022-02-07
AR116569A1 (es) 2021-05-19

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