MX2023006445A - Composiciones y usos de estas para el tratamiento del síndrome de angelman. - Google Patents

Composiciones y usos de estas para el tratamiento del síndrome de angelman.

Info

Publication number
MX2023006445A
MX2023006445A MX2023006445A MX2023006445A MX2023006445A MX 2023006445 A MX2023006445 A MX 2023006445A MX 2023006445 A MX2023006445 A MX 2023006445A MX 2023006445 A MX2023006445 A MX 2023006445A MX 2023006445 A MX2023006445 A MX 2023006445A
Authority
MX
Mexico
Prior art keywords
angelman syndrome
compositions
treatment
ube3a
raav
Prior art date
Application number
MX2023006445A
Other languages
English (en)
Inventor
James M Wilson
Ralf Schmid
Justin Percival
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 MX2023006445A publication Critical patent/MX2023006445A/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
    • 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
    • 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
    • A61K48/0008—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 'non-active' part of the composition delivered, e.g. wherein such 'non-active' part is not delivered simultaneously with the 'active' part of the composition
    • 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
    • A61K48/0075—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 delivery route, e.g. oral, subcutaneous
    • 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
    • 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
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4702—Regulators; Modulating activity
    • 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
    • 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

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Medicinal Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biochemistry (AREA)
  • Epidemiology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Neurosurgery (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurology (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Biophysics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicinal Preparation (AREA)

Abstract

Se proporciona un rAAV que tiene un genoma de vector con una secuencia que codifica UBE3A. También se proporciona un método para tratar uno o más síntomas del síndrome de Angelman (AS) en un paciente que tiene expresión de UBE3A deficiente en neuronas, en donde el método comprende administrar una rAAV que tiene una secuencia de ácidos nucleicos que codifica UBE3A.
MX2023006445A 2020-12-01 2021-12-01 Composiciones y usos de estas para el tratamiento del síndrome de angelman. MX2023006445A (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063119860P 2020-12-01 2020-12-01
US202163179807P 2021-04-26 2021-04-26
PCT/US2021/061346 WO2022119890A1 (en) 2020-12-01 2021-12-01 Compositions and uses thereof for treatment of angelman syndrome

Publications (1)

Publication Number Publication Date
MX2023006445A true MX2023006445A (es) 2023-08-10

Family

ID=80123326

Family Applications (1)

Application Number Title Priority Date Filing Date
MX2023006445A MX2023006445A (es) 2020-12-01 2021-12-01 Composiciones y usos de estas para el tratamiento del síndrome de angelman.

Country Status (9)

Country Link
US (1) US20230414785A1 (es)
EP (1) EP4255500A1 (es)
JP (1) JP2023551911A (es)
KR (1) KR20230128001A (es)
AU (1) AU2021392642A1 (es)
CA (1) CA3200192A1 (es)
IL (1) IL303239A (es)
MX (1) MX2023006445A (es)
WO (1) WO2022119890A1 (es)

Family Cites Families (30)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
DK1310571T3 (da) 2001-11-13 2006-06-19 Univ Pennsylvania Fremgangsmåde til identifikation af ukendte adeno-associerede virussekvenser (AAV-sekvenser) og et kit til fremgangsmåden
EP1453547B1 (en) 2001-12-17 2016-09-21 The Trustees Of The University Of Pennsylvania Adeno-associated virus (aav) serotype 8 sequences, vectors containing same, and uses therefor
ES2411479T3 (es) 2003-09-30 2013-07-05 The Trustees Of The University Of Pennsylvania Clados de virus adeno-asociados (AAV), secuencias, vectores que los contienen, y usos de los mismos
EP3085389A1 (en) 2005-04-07 2016-10-26 The Trustees Of The University Of Pennsylvania Method of increasing the function of an aav vector
EP2007795B1 (en) 2006-03-30 2016-11-16 The Board Of Trustees Of The Leland Stanford Junior University Aav capsid proteins
US8969353B2 (en) 2008-11-07 2015-03-03 Massachusetts Institute Of Technology Aminoalcohol lipidoids and uses thereof
US9315825B2 (en) 2010-03-29 2016-04-19 The Trustees Of The University Of Pennsylvania Pharmacologically induced transgene ablation system
JP5922095B2 (ja) 2010-03-29 2016-05-24 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 薬理学的に誘導される導入遺伝子アブレーション系
PL2643468T3 (pl) 2010-11-22 2018-11-30 Amicus Therapeutics, Inc. Nowe sekwencje sygnałowe do poprawy ekspresji białek i wydzielania ekombinowanych enzymów i innych białek
IL280771B2 (en) 2011-06-08 2024-03-01 Shire Human Genetic Therapies Preparations of lipid nanoparticles and methods for administration of mRNA
FR2977562B1 (fr) 2011-07-06 2016-12-23 Gaztransport Et Technigaz Cuve etanche et thermiquement isolante integree dans une structure porteuse
EP3800254A1 (en) 2012-06-08 2021-04-07 Ethris GmbH Pulmonary delivery of messenger rna
US9567369B2 (en) 2012-08-03 2017-02-14 A.T. Still University Method of treating metastatic cancer
EP3044318B1 (en) 2013-09-13 2019-05-01 California Institute of Technology Selective recovery
RS59344B1 (sr) 2014-02-28 2019-10-31 Univ Bologna Alma Mater Studiorum Tatk-cdkl5 fuzioni proteini, sastavi, formulacije i njihova upotreba
WO2017100674A1 (en) 2015-12-11 2017-06-15 The Trustees Of The University Of Pennsylvania Scalable purification method for aav1
WO2017160360A2 (en) 2015-12-11 2017-09-21 The Trustees Of The University Of Pennsylvania Scalable purification method for aav9
US20190038777A1 (en) * 2016-02-05 2019-02-07 Emory University Injection of single-stranded or self-complementary adeno-associated virus 9 into the cerebrospinal fluid
CA3029473A1 (en) 2016-06-28 2018-01-04 Alma Mater Studiorum - Universita Di Bologna Tat.kappa.-cdkl5 fusion proteins, compositions, formulations, and use thereof
SG10201912976WA (en) 2017-02-28 2020-02-27 Univ Pennsylvania Adeno-associated virus (aav) clade f vector and uses therefor
RU2019143627A (ru) 2017-06-28 2021-07-28 Юниверсити Оф Соус Флорида Модифицированный ген ube3a для генной терапии синдрома ангельмана
JP2021505135A (ja) 2017-11-30 2021-02-18 アミカス セラピューティックス インコーポレイテッド Ｃｄｋｌ５発現変異体及びｃｄｋｌ５融合タンパク質
BR112020021962A2 (pt) 2018-04-30 2021-01-26 Amicus Therapeutics, Inc. construtos para terapia gênica e métodos de uso
MX2020013667A (es) * 2018-06-14 2021-03-02 Ovid Therapeutics Inc Uso de mir-92a o mir-145 en el tratamiento del sindrome de angelman.
BR112021011143A2 (pt) 2018-12-21 2022-01-25 Univ Pennsylvania Composições para redução específica de drg da expressão de transgene
EP3976077A4 (en) 2019-04-29 2023-08-30 The Trustees of The University of Pennsylvania NOVEL AAV CAPSIDS AND COMPOSITIONS CONTAINING THEM
CN114127296A (zh) * 2019-05-22 2022-03-01 北卡罗来纳大学查佩尔希尔分校 Ube3a基因和表达盒及其应用
IT201900008877A1 (it) 2019-06-13 2020-12-13 Univ Bologna Alma Mater Studiorum Nuovi costrutti per terapia genica
KR20220077921A (ko) 2019-10-10 2022-06-09 아미쿠스 세라퓨틱스, 인코포레이티드 변이체 igf2 작제물
AU2020372988A1 (en) 2019-10-30 2023-06-01 Amicus Therapeutics, Inc. Recombinant CDKL5 proteins, gene therapy and production methods

Also Published As

Publication number Publication date
IL303239A (en) 2023-07-01
AU2021392642A1 (en) 2023-06-22
US20230414785A1 (en) 2023-12-28
EP4255500A1 (en) 2023-10-11
CA3200192A1 (en) 2022-06-09
KR20230128001A (ko) 2023-09-01
WO2022119890A1 (en) 2022-06-09
JP2023551911A (ja) 2023-12-13
WO2022119890A9 (en) 2023-07-27

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