CY1123158T1 - Θεραπειες γονιδιακης ενισχυσης για την κληρονομικη εκφυλιση του αμφιβληστροειδους που προκαλειται απο μεταλλαξεις στο γονιδιο prpf31 - Google Patents

Θεραπειες γονιδιακης ενισχυσης για την κληρονομικη εκφυλιση του αμφιβληστροειδους που προκαλειται απο μεταλλαξεις στο γονιδιο prpf31

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Publication number
CY1123158T1
CY1123158T1 CY20201100718T CY201100718T CY1123158T1 CY 1123158 T1 CY1123158 T1 CY 1123158T1 CY 20201100718 T CY20201100718 T CY 20201100718T CY 201100718 T CY201100718 T CY 201100718T CY 1123158 T1 CY1123158 T1 CY 1123158T1
Authority
CY
Cyprus
Prior art keywords
gene
mutations
prpf31
amphiblistroids
therapies
Prior art date
Application number
CY20201100718T
Other languages
English (en)
Inventor
Eric A. Pierce
Michael H. FARKAS
Maria E. SOUSA
Original Assignee
Massachusetts Eye & Ear Infirmary
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 Massachusetts Eye & Ear Infirmary filed Critical Massachusetts Eye & Ear Infirmary
Publication of CY1123158T1 publication Critical patent/CY1123158T1/el

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    • 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
    • A61K9/00—Medicinal preparations characterised by special physical form
    • A61K9/0012—Galenical forms characterised by the site of application
    • A61K9/0048—Eye, e.g. artificial tears
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • 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
    • 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
    • C12N15/87—Introduction of foreign genetic material using processes not otherwise provided for, e.g. co-transformation
    • C12N15/90—Stable introduction of foreign DNA into chromosome
    • 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
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/113—Non-coding nucleic acids modulating the expression of genes, e.g. antisense oligonucleotides; Antisense DNA or RNA; Triplex- forming oligonucleotides; Catalytic nucleic acids, e.g. ribozymes; Nucleic acids used in co-suppression or gene silencing
    • 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
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/20—Type of nucleic acid involving clustered regularly interspaced short palindromic repeats [CRISPRs]
    • 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

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biomedical Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Epidemiology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Ophthalmology & Optometry (AREA)
  • Mycology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Peptides Or Proteins (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Η παρούσα εφεύρεση αφορά μεθόδους και συνθέσεις για τη γονιδιακή θεραπεία της μελαγχρωστικής αμφιβληστροειδοπάθειας που σχετίζεται με μεταλλάξεις στον παράγοντα επεξεργασίας προ-mRNA 31 (PRPF31).
CY20201100718T 2015-03-06 2020-08-04 Θεραπειες γονιδιακης ενισχυσης για την κληρονομικη εκφυλιση του αμφιβληστροειδους που προκαλειται απο μεταλλαξεις στο γονιδιο prpf31 CY1123158T1 (el)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201562129638P 2015-03-06 2015-03-06
US201562147307P 2015-04-14 2015-04-14
PCT/US2016/021226 WO2016144892A1 (en) 2015-03-06 2016-03-07 Gene augmentation therapies for inherited retinal degeneration caused by mutations in the prpf31 gene

Publications (1)

Publication Number Publication Date
CY1123158T1 true CY1123158T1 (el) 2021-10-29

Family

ID=56879585

Family Applications (1)

Application Number Title Priority Date Filing Date
CY20201100718T CY1123158T1 (el) 2015-03-06 2020-08-04 Θεραπειες γονιδιακης ενισχυσης για την κληρονομικη εκφυλιση του αμφιβληστροειδους που προκαλειται απο μεταλλαξεις στο γονιδιο prpf31

Country Status (15)

Country Link
US (2) US20180043034A1 (el)
EP (2) EP3265568B1 (el)
JP (3) JP6812368B2 (el)
CY (1) CY1123158T1 (el)
DK (1) DK3265568T3 (el)
ES (1) ES2806054T3 (el)
HK (1) HK1247637A1 (el)
HR (1) HRP20201225T1 (el)
HU (1) HUE051491T2 (el)
LT (1) LT3265568T (el)
PL (1) PL3265568T3 (el)
PT (1) PT3265568T (el)
RS (1) RS60668B1 (el)
SI (1) SI3265568T1 (el)
WO (1) WO2016144892A1 (el)

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EP2699270B1 (en) 2011-04-22 2017-06-21 The Regents of The University of California Adeno-associated virus virions with variant capsid and methods of use thereof
WO2014194132A1 (en) 2013-05-31 2014-12-04 The Regents Of The University Of California Adeno-associated virus variants and methods of use thereof
AU2015231439B2 (en) 2014-03-17 2019-11-14 Adverum Biotechnologies, Inc. Compositions and methods for enhanced gene expression in cone cells
SG11201707063TA (en) 2015-03-02 2017-09-28 Adverum Biotechnologies Inc Compositions and methods for intravitreal delivery of polynucleotides to retinal cones
DK3265568T3 (da) * 2015-03-06 2020-08-10 Massachusetts Eye & Ear Infirmary Genaugmentationsterapier til arvelig retinal degeneration forårsaget af mutationer i prpf31-genet
CN107532177A (zh) * 2015-03-24 2018-01-02 加利福尼亚大学董事会 腺相关病毒变体及其使用方法
BR112019001815A2 (pt) 2016-07-29 2019-05-07 The Regents Of The University Of California vírions do vírus adeno-associado com capsídeo variante e seus métodos de uso
CA3034527A1 (en) 2016-08-23 2018-03-01 Emmanuel John Simons Compositions and methods for treating non-age-associated hearing impairment in a human subject
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Also Published As

Publication number Publication date
US20180043034A1 (en) 2018-02-15
PT3265568T (pt) 2020-08-20
SI3265568T1 (sl) 2020-10-30
JP6812368B2 (ja) 2021-01-13
EP3265568B1 (en) 2020-05-06
EP3748007A1 (en) 2020-12-09
LT3265568T (lt) 2020-08-25
WO2016144892A1 (en) 2016-09-15
EP3265568A1 (en) 2018-01-10
HRP20201225T1 (hr) 2020-11-13
HK1247637A1 (zh) 2018-09-28
JP2023071867A (ja) 2023-05-23
JP2021059561A (ja) 2021-04-15
PL3265568T3 (pl) 2020-11-30
ES2806054T3 (es) 2021-02-16
JP7239550B2 (ja) 2023-03-14
RS60668B1 (sr) 2020-09-30
JP2018511652A (ja) 2018-04-26
DK3265568T3 (da) 2020-08-10
HUE051491T2 (hu) 2021-03-01
EP3265568A4 (en) 2018-08-08
US20210069347A1 (en) 2021-03-11

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