AR116569A1 - Terapia génica para tratar la acidemia propiónica - Google Patents

Terapia génica para tratar la acidemia propiónica

Info

Publication number
AR116569A1
AR116569A1 ARP190102785A ARP190102785A AR116569A1 AR 116569 A1 AR116569 A1 AR 116569A1 AR P190102785 A ARP190102785 A AR P190102785A AR P190102785 A ARP190102785 A AR P190102785A AR 116569 A1 AR116569 A1 AR 116569A1
Authority
AR
Argentina
Prior art keywords
gene therapy
treat
propionic acidemia
propionyl
subunit
Prior art date
Application number
ARP190102785A
Other languages
English (en)
Inventor
Stewart Craig
Sean Daugherty
Kelly Reed Clark
Samuel Wadsworth
Matthew Fuller
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 AR116569A1 publication Critical patent/AR116569A1/es

Links

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)
  • Biomedical Technology (AREA)
  • Molecular Biology (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)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicinal Preparation (AREA)

Abstract

La presente descripción proporciona vectores virales adenoasociados, virus recombinante adenoasociado (rAAV), y métodos de su uso en la terapia génica para tratar la acidemia propiónica (PA). Se proporcionan, además, composiciones farmacéuticas que comprenden un virus recombinante adenoasociado de la presente y un portador o excipiente farmacéuticamente aceptables. Estas composiciones farmacéuticas pueden ser útiles en la terapia génica para el tratamiento de la PA causado por mutaciones en la propionil-CoA carboxilasa, subunidad a (PCCA) o mutaciones en la propionil-CoA carboxilasa, subunidad b (PCCB).
ARP190102785A 2018-10-01 2019-10-01 Terapia génica para tratar la acidemia propiónica AR116569A1 (es)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US201862739471P 2018-10-01 2018-10-01

Publications (1)

Publication Number Publication Date
AR116569A1 true AR116569A1 (es) 2021-05-19

Family

ID=70055045

Family Applications (1)

Application Number Title Priority Date Filing Date
ARP190102785A AR116569A1 (es) 2018-10-01 2019-10-01 Terapia génica para tratar la acidemia propiónica

Country Status (11)

Country Link
US (1) US20210283272A1 (es)
EP (1) EP3861131A4 (es)
JP (1) JP2022513318A (es)
KR (1) KR20210082460A (es)
CN (1) CN112955557A (es)
AR (1) AR116569A1 (es)
AU (1) AU2019354296A1 (es)
BR (1) BR112021006052A2 (es)
CA (1) CA3113975A1 (es)
TW (1) TW202028472A (es)
WO (1) WO2020072451A1 (es)

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
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
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
CN118166004A (zh) * 2024-05-14 2024-06-11 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 (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
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
MX2018011928A (es) * 2016-03-30 2019-03-28 Spark Therapeutics Inc Linea celular para produccion de proteina recombinante y/o vector viral.
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
BR112019013245A2 (pt) * 2016-12-30 2020-02-11 The Trustees Of The University Of Pennsylvania Terapia gênica para tratamento da doença de wilson

Also Published As

Publication number Publication date
CN112955557A (zh) 2021-06-11
BR112021006052A2 (pt) 2021-09-08
JP2022513318A (ja) 2022-02-07
US20210283272A1 (en) 2021-09-16
EP3861131A4 (en) 2022-06-15
EP3861131A1 (en) 2021-08-11
AU2019354296A1 (en) 2021-04-29
WO2020072451A1 (en) 2020-04-09
CA3113975A1 (en) 2020-04-09
TW202028472A (zh) 2020-08-01
KR20210082460A (ko) 2021-07-05
WO2020072451A8 (en) 2021-05-14

Similar Documents

Publication Publication Date Title
AR116569A1 (es) Terapia génica para tratar la acidemia propiónica
CL2022001719A1 (es) Compuestos moduladores de la diacilglicerol quinasa
BR112018068748A2 (pt) composto, composição farmacêutica e de vacina, métodos para indução ou promoção de uma resposta imunológica, para tratamento de câncer, de doenças infecciosas, de distúrbios imunológicos e de doenças imunológicas e para tratamento ou prevenção de uma doença, e, uso de um composto
BR112018011711A2 (pt) peptídeos de direcionamento para direcionar virus adeno-associados (aav)
MX2021007679A (es) Anticuerpos humanos para hemaglutinina de influenza.
BR112018003985A2 (pt) macrociclos peptidomiméticos e usos dos mesmos
ECSP17073878A (es) Derivados de indol mono o disustituidos como inhibidores de la replicación viral del dengue
BR112017021869A2 (pt) compostos quinazolina substituídos e métodos de uso dos mesmos
UY37741A (es) Derivados de indolina sustituidos como inhibidores de la replicación del virus del dengue
PH12019500208A1 (en) Spiro-lactam nmda receptor modulators and methods of using same
BR112019001768A2 (pt) moduladores do receptor de spiro-lactamas nmda e usos dos mesmos
MX2019001318A (es) Moduladores del receptor nmda espiro-lactam y uso de los mismos.
BR112021015751A2 (pt) Vetores de terapia genética para tratamento da doença de danon
BR112022015921A2 (pt) Terapia gênica para tratar o transtorno de deficiência de cdkl5
CO2020007601A2 (es) Cepa vacunal de brucella modificada para el tratamiento de brucelosis
BR112017023425A2 (pt) combinações terapêuticas de terapias antivirais e anti-inflamatórias
MY186134A (en) Curcumin-peptide conjugates and formulations thereof
CO2023013050A2 (es) Composiciones de psilocibina, métodos para prepararlas y métodos de uso de estas
MX2019005309A (es) Anticuerpos anti-bag3 en combinacion con inhibidores del punto de control inmunitario para uso terapeutico.
CL2017001595A1 (es) Composiciones de vacuna para el virus del dengue y métodos de uso de las mismas
PE20212076A1 (es) Composiciones de virus adeno-asociado para restaurar la funcion del gen pah y metodos de uso de las mismas
PH12020551051A1 (en) Human antibodies to influenza hemagglutinin
AR121709A1 (es) Terapia génica para tratar la acidemia propiónica
MX2017013879A (es) Composiciones que comprenden anakinra.
WO2018085551A3 (en) Formulations of pegylated arginine deiminase