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MX2022013504A - 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
MX2022013504A
MX2022013504A MX2022013504A MX2022013504A MX2022013504A MX 2022013504 A MX2022013504 A MX 2022013504A MX 2022013504 A MX2022013504 A MX 2022013504A MX 2022013504 A MX2022013504 A MX 2022013504A MX 2022013504 A MX2022013504 A MX 2022013504A
Authority
MX
Mexico
Prior art keywords
cdd
raav
treatment
compositions useful
deficiency disorder
Prior art date
Application number
MX2022013504A
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 MX2022013504A publication Critical patent/MX2022013504A/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
    • 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
    • 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
    • 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)
  • Wood Science & Technology (AREA)
  • Zoology (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)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Biophysics (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Virology (AREA)
  • Veterinary Medicine (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.
MX2022013504A 2020-04-27 2021-04-26 Composiciones útiles en el tratamiento del trastorno de deficiencia de cdkl5 (cdd). MX2022013504A (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
MX2022013504A true MX2022013504A (es) 2023-02-01

Family

ID=78374221

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2022013504A MX2022013504A (es) 2020-04-27 2021-04-26 Composiciones útiles en el tratamiento del trastorno de deficiencia de cdkl5 (cdd).

Country Status (12)

Country Link
US (1) US20230167455A1 (es)
EP (1) EP4150051A4 (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
MX2024004723A (es) * 2021-10-18 2024-07-19 Univ Pennsylvania Composiciones útiles en el tratamiento del trastorno por deficiencia de cdkl5 (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 (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2004076622A2 (en) * 2003-02-10 2004-09-10 National Institute Of Advanced Industrial Science And Technology Regulation of gene expression by dna interference
JP5956709B2 (ja) * 2005-05-27 2016-07-27 オスペダーレ サン ラファエレ エス．アール．エル 遺伝子ベクター
HK1206779A1 (en) * 2012-04-02 2016-01-15 Modernatx, Inc. Modified polynucleotides for the production of nuclear proteins
US10167457B2 (en) * 2015-10-23 2019-01-01 President And Fellows Of Harvard College Nucleobase editors and uses thereof
JP7057281B2 (ja) * 2015-12-14 2022-04-19 ザ・トラステイーズ・オブ・ザ・ユニバーシテイ・オブ・ペンシルベニア 眼疾患のための遺伝子療法
EP3452101A2 (en) * 2016-05-04 2019-03-13 CureVac AG Rna encoding a therapeutic protein
SMT202400080T1 (it) * 2017-02-28 2024-05-14 Univ Pennsylvania Vettore di clade f di virus adenoassociato (aav) e relativi usi
MA49153A (fr) * 2017-05-19 2021-03-24 Encoded Therapeutics Inc Éléments régulateurs à haute activité
CN111936624A (zh) * 2017-11-30 2020-11-13 阿米库斯治疗学公司 Cdkl5表达变体和cdkl5融合蛋白
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
IL294781A (en) * 2020-02-14 2022-09-01 Ultragenyx Pharmaceutical Inc Gene therapy for the treatment of cdkl5-deficient disorder
MX2024004723A (es) * 2021-10-18 2024-07-19 Univ Pennsylvania Composiciones útiles en el tratamiento del trastorno por deficiencia de cdkl5 (cdd).

Also Published As

Publication number Publication date
US20230167455A1 (en) 2023-06-01
KR20230003569A (ko) 2023-01-06
AU2021262735A1 (en) 2022-12-22
EP4150051A1 (en) 2023-03-22
CA3176788A1 (en) 2021-11-04
JP2023524437A (ja) 2023-06-12
EP4150051A4 (en) 2025-05-21
CO2022016956A2 (es) 2022-12-09
WO2021222118A1 (en) 2021-11-04
BR112022021762A2 (pt) 2023-01-17
IL297635A (en) 2022-12-01
CN115885040A (zh) 2023-03-31

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