[go: up one dir, main page]

CO2020000679A2 - Gen ube3a modificado para un enfoque de terapia genética para el síndrome de angelman - Google Patents

Gen ube3a modificado para un enfoque de terapia genética para el síndrome de angelman

Info

Publication number
CO2020000679A2
CO2020000679A2 CONC2020/0000679A CO2020000679A CO2020000679A2 CO 2020000679 A2 CO2020000679 A2 CO 2020000679A2 CO 2020000679 A CO2020000679 A CO 2020000679A CO 2020000679 A2 CO2020000679 A2 CO 2020000679A2
Authority
CO
Colombia
Prior art keywords
gene
ube3a
angelman syndrome
cases
gene therapy
Prior art date
Application number
CONC2020/0000679A
Other languages
English (en)
Inventor
Kevin Ron Nash
Edwin John Weeber
Original Assignee
Univ South Florida
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 Univ South Florida filed Critical Univ South Florida
Publication of CO2020000679A2 publication Critical patent/CO2020000679A2/es

Links

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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/93—Ligases (6)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K35/00—Medicinal preparations containing materials or reaction products thereof with undetermined constitution
    • A61K35/66—Microorganisms or materials therefrom
    • A61K35/76—Viruses; Subviral particles; Bacteriophages
    • A61K35/761—Adenovirus
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/7088—Compounds having three or more nucleosides or nucleotides
    • A61K31/711—Natural deoxyribonucleic acids, i.e. containing only 2'-deoxyriboses attached to adenine, guanine, cytosine or thymine and having 3'-5' phosphodiester links
    • 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
    • A61K48/0058—Nucleic acids adapted for tissue specific expression, e.g. having tissue specific promoters as part of a contruct
    • 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
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
    • 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
    • C07K14/575—Hormones
    • C07K14/62—Insulins
    • 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
    • C12Y—ENZYMES
    • C12Y603/00—Ligases forming carbon-nitrogen bonds (6.3)
    • C12Y603/02—Acid—amino-acid ligases (peptide synthases)(6.3.2)
    • C12Y603/02019—Ubiquitin-protein ligase (6.3.2.19), i.e. ubiquitin-conjugating enzyme
    • 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
    • C12N2810/00—Vectors comprising a targeting moiety
    • C12N2810/40—Vectors comprising a peptide as targeting moiety, e.g. a synthetic peptide, from undefined source
    • 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
    • C12N2810/00—Vectors comprising a targeting moiety
    • C12N2810/50—Vectors comprising as targeting moiety peptide derived from defined protein
    • C12N2810/80—Vectors comprising as targeting moiety peptide derived from defined protein from vertebrates
    • C12N2810/85—Vectors comprising as targeting moiety peptide derived from defined protein from vertebrates mammalian
    • C12N2810/854—Vectors comprising as targeting moiety peptide derived from defined protein from vertebrates mammalian from hormones
    • 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)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • General Engineering & Computer Science (AREA)
  • Epidemiology (AREA)
  • Virology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Diabetes (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Hospice & Palliative Care (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Psychiatry (AREA)
  • Toxicology (AREA)
  • Endocrinology (AREA)
  • Mycology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

RESUMEN DE LA INVENCIÓN Se presenta un nuevo vector, composición y método para tratar un trastorno neurológico caracterizado por deficiencia de UBE3A. Se descubrió que el gen UBE3A, que codifica para E6-AP, una ubiquitina ligasa, es responsable del síndrome de Angelman (AS). Una característica única de este gen es que sufre una impresión materna de una manera neuro-específica. En la mayoría de los casos del AS, hay una mutación o supresión en el gen UBE3A heredado de la madre, aunque otros casos son el resultado de la disomía uniparental o la metilación errónea del gen materno. Se generó una construcción de proteína UBE3A con secuencias adicionales que permiten la secreción de las células y la absorción por las células neuronales vecinas. Este vector UBE3A puede usarse en terapia génica para conferir una proteína E6-AP funcional a las neuronas y rescatar la patología de la enfermedad.
CONC2020/0000679A 2017-06-28 2020-01-22 Gen ube3a modificado para un enfoque de terapia genética para el síndrome de angelman CO2020000679A2 (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201762525787P 2017-06-28 2017-06-28
PCT/US2018/039980 WO2019006107A1 (en) 2017-06-28 2018-06-28 MODIFIED UBE3A GENE FOR GENE THERAPY APPROACH TO ANGELMAN'S SYNDROME

Publications (1)

Publication Number Publication Date
CO2020000679A2 true CO2020000679A2 (es) 2020-01-31

Family

ID=64743041

Family Applications (1)

Application Number Title Priority Date Filing Date
CONC2020/0000679A CO2020000679A2 (es) 2017-06-28 2020-01-22 Gen ube3a modificado para un enfoque de terapia genética para el síndrome de angelman

Country Status (10)

Country Link
US (1) US20200113955A1 (es)
EP (1) EP3645012A4 (es)
JP (2) JP2020528739A (es)
CN (1) CN110869031A (es)
AU (1) AU2018291137A1 (es)
BR (1) BR112019027692A2 (es)
CA (1) CA3068304A1 (es)
CO (1) CO2020000679A2 (es)
RU (1) RU2019143627A (es)
WO (1) WO2019006107A1 (es)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10718753B2 (en) 2015-11-12 2020-07-21 Hoffman-La Roche Inc. Oligonucleotides for inducing paternal UBE3A expression

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2020159965A1 (en) * 2019-01-30 2020-08-06 University Of South Florida Method for detection and analysis of cerebrospinal fluid associated ube3a
CN114206393A (zh) * 2019-03-21 2022-03-18 Ptc医疗公司 用于治疗天使综合征的载体和方法
EP3973059A4 (en) * 2019-05-22 2023-10-25 The University of North Carolina at Chapel Hill UBE3A GENES AND EXPRESSION CASSETTES AND THEIR USE
AU2021392642A1 (en) 2020-12-01 2023-06-22 The Trustees Of The University Of Pennsylvania Compositions and uses thereof for treatment of angelman syndrome
WO2022272171A2 (en) * 2021-06-25 2022-12-29 University Of South Florida Secreted ube3a for treatment of neurological disorders

Family Cites Families (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6706505B1 (en) * 2000-03-08 2004-03-16 Amgen Inc Human E3α ubiquitin ligase family
CA2442670A1 (en) * 2001-04-13 2002-10-24 The Trustees Of The University Of Pennsylvania Method of treating or retarding the development of blindness
US7169913B2 (en) * 2001-05-25 2007-01-30 Aventis Pharma Sa Engineered secreted alkaline phosphatase (SEAP) reporter genes and polypeptides
US20090082265A1 (en) * 2002-01-04 2009-03-26 Myriad Genetics, Incorporated Compositions and methods for treating diseases
US9714427B2 (en) 2010-11-11 2017-07-25 The University Of North Carolina At Chapel Hill Methods and compositions for unsilencing imprinted genes
EP2678433B1 (en) * 2011-02-22 2017-05-03 California Institute of Technology Delivery of proteins using adeno-associated virus (aav) vectors
CN104169419A (zh) * 2011-12-23 2014-11-26 艾根股份有限公司 用于输送生物活性rna的组合物和方法
EP2724721A1 (en) 2012-10-26 2014-04-30 Matentzoglu, Konstantin Composition for use in the treatment of Angelman syndrome and/or autism spectrum disorder, the use of such composition and a method for manufacturing a medicament for the treatment of Angelman syndrome and/or autism spectrum disorder
EP4299741A3 (en) * 2012-12-12 2024-02-28 The Broad Institute, Inc. Delivery, engineering and optimization of systems, methods and compositions for sequence manipulation and therapeutic applications
WO2014194259A1 (en) * 2013-05-30 2014-12-04 Arizona Board Of Regents, A Body Corporate Of The State Of Arizona, Acting For And On Behalf Of Arizona State University Methods and compositions for treating brain diseases
EP3107939B1 (en) * 2014-02-19 2020-06-17 University of Florida Research Foundation, Inc. Delivery of nrf2 as therapy for protection against reactive oxygen species
EP4050020A1 (en) * 2014-03-11 2022-08-31 University of Florida Research Foundation, Inc. Aav-expressed m013 protein as an anti-inflammatroy therapeutic for use in a method of treating inflammatory ocular disease
CN107531757A (zh) * 2015-03-04 2018-01-02 新加坡科技研究局 细胞毒性hexim1肽和其用途
EP4154914B1 (en) * 2015-05-07 2024-08-28 University of South Florida Modified ube3a gene for a gene therapy approach for angelman syndrome
WO2017048466A1 (en) * 2015-09-15 2017-03-23 The Regents Of The University Of California Compositions and methods for delivering biotherapeutics

Cited By (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10718753B2 (en) 2015-11-12 2020-07-21 Hoffman-La Roche Inc. Oligonucleotides for inducing paternal UBE3A expression
US11320421B2 (en) 2015-11-12 2022-05-03 Hoffmann-La Roche Inc. Oligonucleotides for inducing paternal UBE3A expression
US11852627B2 (en) 2015-11-12 2023-12-26 Hoffmann-La Roche Inc. Oligonucleotides for inducing paternal UBE3A expression
US12259380B2 (en) 2015-11-12 2025-03-25 Hoffmann-La Roche Inc. Oligonucleotides for inducing paternal UBE3A expression

Also Published As

Publication number Publication date
US20200113955A1 (en) 2020-04-16
AU2018291137A1 (en) 2020-01-23
RU2019143627A (ru) 2021-07-28
BR112019027692A2 (pt) 2020-11-24
WO2019006107A1 (en) 2019-01-03
CN110869031A (zh) 2020-03-06
JP2020528739A (ja) 2020-10-01
RU2019143627A3 (es) 2022-04-07
JP2023055906A (ja) 2023-04-18
AU2018291137A2 (en) 2020-03-26
EP3645012A1 (en) 2020-05-06
CA3068304A1 (en) 2019-01-03
EP3645012A4 (en) 2021-06-30

Similar Documents

Publication Publication Date Title
CO2020000679A2 (es) Gen ube3a modificado para un enfoque de terapia genética para el síndrome de angelman
CO2018004564A2 (es) Genes de ataxia de friedreich modificados y vectores para terapia génica
CO2018006590A2 (es) Métodos y composiciones para el tratamiento de un trastorno asociado a serpinc1
CL2019000732A1 (es) Tratamiento avv de la enfermedad de huntington.
MX391815B (es) AGENTES DE iARN, COMPOSICIONES Y METODOS DE LOS MISMOS PARA USARSE EN EL TRATAMIENTO DE ENFERMEDADES ASOCIADAS CON TRANSTITERINA (TTR).
CO2020005116A2 (es) Composiciones y métodos para la edición del gen ttr y el tratamiento de la amiloidosis attr
DOP2017000094A (es) Composiciones y métodos para inhibir la expresión del gen hao1 (hidroxiácido-oxidasa 1 (glicolato-oxidasa))
MX2023000251A (es) Composiciones para usarse en el tratamiento de un trastorno asociado a gen de proproteina convertasa subtilisina kexina (pcsk9).
ECSP19044183A (es) (aza)indol-, benzotiofen, y benzofuran-3-sulfonamidas
MX2016016364A (es) Terapia de combinacion con inhibidores de glutaminasa.
MX381283B (es) Tratamiento de pénfigo.
MX383887B (es) Composiciones farmacéuticas y uso de las mismas para la prevención y el tratamiento de cardiomiopatía asociada a la ataxia de friedreich.
EA201990644A1 (ru) Антисмысловые олигонуклеотиды для лечения глазного заболевания
PE20181131A1 (es) COMPOSICIONES DE ARNi PARA LIGANDO 1 DE MUERTE CELULAR PROGRAMADA 1 (PD-L1) Y METODOS DE USO DE LAS MISMAS
MX2018005315A (es) Composiciones y metodos para el tratamiento del cancer.
MX2018000981A (es) Composiciones de acido ribonucleico interferente (arni) de transtiretina (ttr) y metodos para su uso para el tratamiento o prevencion de enfermedades asociadas con transtiretina (ttr).
MX2016015126A (es) Composiciones de angiotensinogeno (agt) arni y metodos de uso de las mismas.
MX2019012452A (es) Meganucleasas diseñadas especificas para secuencias de reconocimiento en el gen pcsk9.
MX2017016518A (es) Composiciones y metodos para la mejora de la vision a distancia y el tratamiento de errores de refraccion del ojo.
CR20160485A (es) Compuesto de ciclopropanamina y sus usos
EA201791874A1 (ru) Фторированные ингибиторы лизилоксидазоподобного фермента-2 и их применение
MX2019001718A (es) Fracciones de plasma sanguineo como tratamiento para trastornos cognitivos asociados con el envejecimiento.
EA202191301A1 (ru) СОСТАВ ТАБЛЕТОК 2-ФТОР-N-МЕТИЛ-4-[7-(ХИНОЛИН-6-ИЛМЕТИЛ)ИМИДАЗО[1,2-b][1,2,4]ТРИАЗИН-2-ИЛ]БЕНЗАМИДА
MX2017014204A (es) Formulaciones de tpp1 y metodos para tratar la enfemedad de cln2.
EA201891664A1 (ru) Составы/композиции, содержащие ингибитор btk