AU2021392642A1 - Compositions and uses thereof for treatment of angelman syndrome - Google Patents

Compositions and uses thereof for treatment of angelman syndrome Download PDF

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Publication number
AU2021392642A1
AU2021392642A1 AU2021392642A AU2021392642A AU2021392642A1 AU 2021392642 A1 AU2021392642 A1 AU 2021392642A1 AU 2021392642 A AU2021392642 A AU 2021392642A AU 2021392642 A AU2021392642 A AU 2021392642A AU 2021392642 A1 AU2021392642 A1 AU 2021392642A1
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AU
Australia
Prior art keywords
ube3a
aav
isoform
composition according
seq
Prior art date
Legal status (The legal status 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 status listed.)
Pending
Application number
AU2021392642A
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English (en)
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AU2021392642A9 (en
Inventor
Justin PERCIVAL
Ralf Schmid
James M. Wilson
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
University of Pennsylvania Penn
Original Assignee
University of Pennsylvania Penn
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Filing date
Publication date
Application filed by University of Pennsylvania Penn filed Critical University of Pennsylvania Penn
Publication of AU2021392642A1 publication Critical patent/AU2021392642A1/en
Publication of AU2021392642A9 publication Critical patent/AU2021392642A9/en
Pending legal-status Critical Current

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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
    • 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
    • A61K48/005—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
    • A61K48/0075—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

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  • 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)
AU2021392642A 2020-12-01 2021-12-01 Compositions and uses thereof for treatment of angelman syndrome Pending AU2021392642A1 (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US202063119860P 2020-12-01 2020-12-01
US63/119,860 2020-12-01
US202163179807P 2021-04-26 2021-04-26
US63/179,807 2021-04-26
PCT/US2021/061346 WO2022119890A1 (en) 2020-12-01 2021-12-01 Compositions and uses thereof for treatment of angelman syndrome

Publications (2)

Publication Number Publication Date
AU2021392642A1 true AU2021392642A1 (en) 2023-06-22
AU2021392642A9 AU2021392642A9 (en) 2025-04-10

Family

ID=80123326

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2021392642A Pending AU2021392642A1 (en) 2020-12-01 2021-12-01 Compositions and uses thereof for treatment of angelman syndrome

Country Status (9)

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

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP4661916A1 (en) * 2023-02-08 2025-12-17 Ginkgo Bioworks, Inc. Gene therapy for angelman syndrome

Family Cites Families (32)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
MX359371B (es) 2001-11-13 2018-09-25 Univ Pennsylvania Un metodo para detectar y/o identificar secuencias del virus adeno-asociado y aislamiento de secuencias novedosas identificadas de ese modo.
PT1453547T (pt) 2001-12-17 2016-12-28 Univ Pennsylvania Sequências do vírus adeno-associado (aav) do serotipo 8, vetores contendo as mesmas, e utilizações destas
EP2345731B1 (en) 2003-09-30 2015-10-21 The Trustees of the University of Pennsylvania Adeno-associated virus (AAV) clades, sequences, vectors containing same, and uses thereof
ES2525067T3 (es) 2005-04-07 2014-12-17 The Trustees Of The University Of Pennsylvania Método de incremento de la función de un vector de AAV
US7588772B2 (en) 2006-03-30 2009-09-15 Board Of Trustees Of The Leland Stamford Junior University AAV capsid library and AAV capsid proteins
EP3269395A1 (en) 2008-11-07 2018-01-17 Massachusetts Institute Of Technology Aminoalcohol lipidoids and uses thereof
WO2011126808A2 (en) 2010-03-29 2011-10-13 The Trustees Of The University Of Pennsylvania Pharmacologically induced transgene ablation system
US9315825B2 (en) 2010-03-29 2016-04-19 The Trustees Of The University Of Pennsylvania Pharmacologically induced transgene ablation system
ES2829199T3 (es) 2010-11-22 2021-05-31 Amicus Therapeutics Inc Nuevas secuencias de señalización para mejorar la expresión y segregación de proteínas de enzimas recombinantes y otras proteínas
RU2013154295A (ru) 2011-06-08 2015-07-20 Шир Хьюман Дженетик Терапис, Инк. КОМПОЗИЦИИ ЛИПИДНЫХ НАНОЧАСТИЦ И СПОСОБЫ ДЛЯ ДОСТАВКИ мРНК
FR2977562B1 (fr) 2011-07-06 2016-12-23 Gaztransport Et Technigaz Cuve etanche et thermiquement isolante integree dans une structure porteuse
US20150126589A1 (en) 2012-06-08 2015-05-07 Ethris Gmbh Pulmonary Delivery of Messenger RNA
US9567369B2 (en) 2012-08-03 2017-02-14 A.T. Still University Method of treating metastatic cancer
ES2739288T3 (es) 2013-09-13 2020-01-30 California Inst Of Techn Recuperación selectiva
SG10202000537RA (en) 2014-02-28 2020-03-30 Univ Bologna Alma Mater Studiorum Tatk-cdkl5 fusion proteins, compositions, formulations, and use thereof
EP3387138B1 (en) 2015-12-11 2022-01-26 The Trustees Of The University Of Pennsylvania Scalable purification method for aav9
WO2017100674A1 (en) 2015-12-11 2017-06-15 The Trustees Of The University Of Pennsylvania Scalable purification method for aav1
EP3411484B1 (en) * 2016-02-05 2023-10-04 Emory University Injection of single-stranded or self-complementary adeno-associated virus 9 into the cerebrospinal fluid
EP3475418A4 (en) 2016-06-28 2020-03-04 Alma Mater Studiorum -Universita' di Bologna TATK-CDKL5 FUSION PROTEINS, COMPOSITIONS, FORMULATIONS AND THEIR USE
PT3589730T (pt) 2017-02-28 2024-02-28 Univ Pennsylvania Vetor de vírus adenoassociado (aav) de clado f e suas utilizações
BR112019027692A2 (pt) 2017-06-28 2020-11-24 University Of South Florida gene ube3a modificado para uma abordagem terapêutica genética para a síndrome de angelman
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
KR20210040358A (ko) * 2018-06-14 2021-04-13 오비드 테라퓨틱스 인크. 안젤만 증후군의 치료에서 mir-92a 또는 mir-145의 사용
WO2020132455A1 (en) * 2018-12-21 2020-06-25 The Trustees Of The University Of Pennsylvania Compositions for drg-specific reduction of transgene expression
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
SG11202111375RA (en) * 2019-04-29 2021-11-29 Univ Pennsylvania Novel aav capsids and compositions containing same
US12465655B2 (en) * 2019-05-22 2025-11-11 The University Of North Carolina At Chapel Hill UBE3A genes and expression cassettes and their use
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
MX2022004812A (es) * 2019-10-22 2023-02-23 Applied Genetic Tech Corporation Sistemas de virus adeno-asociados (aav) para el tratamiento de enfermedades o trastornos neurodegenerativos asociados a la progranulina.
US20230043046A1 (en) 2019-10-30 2023-02-09 Amicus Therapeutics, Inc. Recombinant CDKL5 Proteins, Gene Therapy and Production Methods

Also Published As

Publication number Publication date
IL303239A (en) 2023-07-01
MX2023006445A (es) 2023-08-10
CA3200192A1 (en) 2022-06-09
WO2022119890A9 (en) 2023-07-27
WO2022119890A1 (en) 2022-06-09
EP4255500A1 (en) 2023-10-11
US20230414785A1 (en) 2023-12-28
JP2023551911A (ja) 2023-12-13
KR20230128001A (ko) 2023-09-01

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