CO2022016956A2 - Composiciones útiles en el tratamiento del trastorno de deficiencia de cdkl5 (cdd) - Google Patents

Composiciones útiles en el tratamiento del trastorno de deficiencia de cdkl5 (cdd)

Info

Publication number
CO2022016956A2
CO2022016956A2 CONC2022/0016956A CO2022016956A CO2022016956A2 CO 2022016956 A2 CO2022016956 A2 CO 2022016956A2 CO 2022016956 A CO2022016956 A CO 2022016956A CO 2022016956 A2 CO2022016956 A2 CO 2022016956A2
Authority
CO
Colombia
Prior art keywords
cdd
raav
cdkl5
treatment
compositions useful
Prior art date
Application number
CONC2022/0016956A
Other languages
English (en)
Inventor
James M Wilson
Ralf Schmid
Original Assignee
Univ Pennsylvania
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 Pennsylvania filed Critical Univ Pennsylvania
Publication of CO2022016956A2 publication Critical patent/CO2022016956A2/es

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y207/00—Transferases transferring phosphorus-containing groups (2.7)
    • C12Y207/11—Protein-serine/threonine kinases (2.7.11)
    • C12Y207/11022—Cyclin-dependent kinase (2.7.11.22)
    • 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
    • C12N15/52—Genes encoding for enzymes or proenzymes
    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • 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
    • C12N9/10—Transferases (2.)
    • C12N9/12—Transferases (2.) transferring phosphorus containing groups, e.g. kinases (2.7)
    • 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
    • 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
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/0306—Animal model for genetic diseases
    • 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
    • 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
    • C12N2830/42—Vector systems having a special element relevant for transcription being an intron or intervening sequence for splicing and/or stability of RNA
    • 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
    • C12N2830/48—Vector systems having a special element relevant for transcription regulating transport or export of RNA, e.g. RRE, PRE, WPRE, CTE
    • 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

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)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Virology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Epidemiology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (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)

Abstract

Se proporciona un virus adenoasociado recombinante (rAAV) que tiene una cápside de AAV y un genoma vectorial que comprende una secuencia de ácido nucleico codificante de una CDKL5 funcional (hCDKLK5). También se proporciona un sistema de producción útil para producir el rAAV, una composición farmacéutica que comprende el rAAV, y un método para tratar a un sujeto que tiene CDD, o para mejorar los síntomas de la CDD, o para retrasar la progresión de la CDD mediante la administración de una cantidad eficaz del rAAV a un sujeto que lo necesita.
CONC2022/0016956A 2020-04-27 2022-11-25 Composiciones útiles en el tratamiento del trastorno de deficiencia de cdkl5 (cdd) CO2022016956A2 (es)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US202063016036P 2020-04-27 2020-04-27
US202063091032P 2020-10-13 2020-10-13
US202063109608P 2020-11-04 2020-11-04
PCT/US2021/029185 WO2021222118A1 (en) 2020-04-27 2021-04-26 Compositions useful in treatment of cdkl5 deficiency disorder (cdd)

Publications (1)

Publication Number Publication Date
CO2022016956A2 true CO2022016956A2 (es) 2022-12-09

Family

ID=78374221

Family Applications (1)

Application Number Title Priority Date Filing Date
CONC2022/0016956A CO2022016956A2 (es) 2020-04-27 2022-11-25 Composiciones útiles en el tratamiento del trastorno de deficiencia de cdkl5 (cdd)

Country Status (12)

Country Link
US (1) US20230167455A1 (es)
EP (1) EP4150051A1 (es)
JP (1) JP2023524437A (es)
KR (1) KR20230003569A (es)
CN (1) CN115885040A (es)
AU (1) AU2021262735A1 (es)
BR (1) BR112022021762A2 (es)
CA (1) CA3176788A1 (es)
CO (1) CO2022016956A2 (es)
IL (1) IL297635A (es)
MX (1) MX2022013504A (es)
WO (1) WO2021222118A1 (es)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2023069967A2 (en) * 2021-10-18 2023-04-27 The Trustees Of The University Of Pennsylvania Compositions useful in treatment of cdkl5 deficiency disorder (cdd)
WO2023102518A1 (en) * 2021-12-03 2023-06-08 The Board Of Regents Of The University Of Texas System Gnao1 gene therapy vectors and uses thereof

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2013243946A1 (en) * 2012-04-02 2014-10-30 Moderna Therapeutics, Inc. Modified polynucleotides for the production of membrane proteins
EP3452101A2 (en) * 2016-05-04 2019-03-13 CureVac AG Rna encoding a therapeutic protein

Also Published As

Publication number Publication date
JP2023524437A (ja) 2023-06-12
CN115885040A (zh) 2023-03-31
EP4150051A1 (en) 2023-03-22
IL297635A (en) 2022-12-01
WO2021222118A1 (en) 2021-11-04
CA3176788A1 (en) 2021-11-04
KR20230003569A (ko) 2023-01-06
BR112022021762A2 (pt) 2023-01-17
MX2022013504A (es) 2023-02-01
AU2021262735A1 (en) 2022-12-22
US20230167455A1 (en) 2023-06-01

Similar Documents

Publication Publication Date Title
CO2022016956A2 (es) Composiciones útiles en el tratamiento del trastorno de deficiencia de cdkl5 (cdd)
CL2021002881A1 (es) Composiciones útiles en el tratamiento de leucodistrofia metacromática
CO2020002674A2 (es) Moléculas de ácido nucleico y sus usos
CO2019009525A2 (es) Novedoso vector del subtipo f del virus adenoasociado (aav) y usos de este
CO2020004738A2 (es) Variantes de cápsides de virus adenoasociados y métodos de uso de estas
CL2018003196A1 (es) Cápsides variantes de virus adenoasociados y métodos de uso de estas.
BR112019000015A2 (pt) distribuição por vírus oncolítico pseudotipado de polipeptídeos terapêuticos
EA202091712A1 (ru) МОДИФИЦИРОВАННЫЙ КАПСИДНЫЙ БЕЛОК rAAV ДЛЯ ГЕННОЙ ТЕРАПИИ
AR112057A1 (es) Vectores virales que codifican variantes de fix recombinantes con mayor expresión para la terapia génica de hemofilia b
CO6640239A2 (es) Proceso par preparar una composición de inmunoglobulina
CL2020000295A1 (es) Métodos de terapia génica del factor viii (fviii)
CO2021011040A2 (es) Virus adenoasociado recombinante para el tratamiento de la neurodegeneración de inicio en adultos asociada a grn
WO2020219766A8 (en) Compositions useful in treatment of rett syndrome
BR112021020957A2 (pt) Capsídeos de vírus adenoassociado (aav) variante para liberação intravítrea
BR112022015921A2 (pt) Terapia gênica para tratar o transtorno de deficiência de cdkl5
EA202290001A1 (ru) Векторы aav с промотором миелинового белка ноль и их применение для лечения заболеваний, связанных со шванновскими клетками, таких как болезнь шарко-мари-тута
MX2022000551A (es) Proteínas de la cápside de aav modificadas para el tratamiento de una enfermedad artrítica.
CL2023001650A1 (es) Tratamiento de la enfermedad de danon
BR112023021999A2 (pt) Administração de terapia gênica de microdistrofina para tratamento de distrofinopatias
BR112023023249A2 (pt) Fator neurotrófico de codificação de vírion aav e usos do mesmo
WO2023069967A8 (en) Compositions useful in treatment of cdkl5 deficiency disorder (cdd)
EA202091194A1 (ru) Вирусные векторы, содержащие области, кодирующие rdh12, и способы лечения дистрофий сетчатки
AR122378A1 (es) Terapia génica para el tratamiento del trastorno por deficiencia de cdkl5
BR112022003206A2 (pt) Métodos para tratar doenças neovasculares oculares usando variantes de aav2 que codificam aflibercepte
AR112362A1 (es) Polinucleótidos de aadc (l-aminoácido aromático descarboxilasa) para el tratamiento de la enfermedad de parkinson