AU2020366242A1 - Materials and methods for the treatment of disorders associated mutations in the IRF2BPL gene - Google Patents

Materials and methods for the treatment of disorders associated mutations in the IRF2BPL gene Download PDF

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Publication number
AU2020366242A1
AU2020366242A1 AU2020366242A AU2020366242A AU2020366242A1 AU 2020366242 A1 AU2020366242 A1 AU 2020366242A1 AU 2020366242 A AU2020366242 A AU 2020366242A AU 2020366242 A AU2020366242 A AU 2020366242A AU 2020366242 A1 AU2020366242 A1 AU 2020366242A1
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AU
Australia
Prior art keywords
raav
irf2bpl
promoter
aav
seq
Prior art date
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Pending
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AU2020366242A
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English (en)
Inventor
Kathrin Christine Meyer
Nicolas Sebastien Wein
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.)
Nationwide Childrens Hospital Inc
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Nationwide Childrens Hospital Inc
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Filing date
Publication date
Application filed by Nationwide Childrens Hospital Inc filed Critical Nationwide Childrens Hospital Inc
Publication of AU2020366242A1 publication Critical patent/AU2020366242A1/en
Pending legal-status Critical Current

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    • 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
    • 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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/10—Transferases (2.)
    • C12N9/1025—Acyltransferases (2.3)
    • C12N9/104—Aminoacyltransferases (2.3.2)
    • 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)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Biomedical Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Virology (AREA)
  • Medicinal Chemistry (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)
AU2020366242A 2019-10-18 2020-10-19 Materials and methods for the treatment of disorders associated mutations in the IRF2BPL gene Pending AU2020366242A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962923432P 2019-10-18 2019-10-18
US62/923,432 2019-10-18
PCT/US2020/056358 WO2021077101A1 (en) 2019-10-18 2020-10-19 Materials and methods for the treatment of disorders associated mutations in the irf2bpl gene

Publications (1)

Publication Number Publication Date
AU2020366242A1 true AU2020366242A1 (en) 2022-05-26

Family

ID=73402144

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2020366242A Pending AU2020366242A1 (en) 2019-10-18 2020-10-19 Materials and methods for the treatment of disorders associated mutations in the IRF2BPL gene

Country Status (6)

Country Link
US (1) US12606846B2 (https=)
EP (1) EP4045662A1 (https=)
JP (1) JP7781057B2 (https=)
AU (1) AU2020366242A1 (https=)
CA (1) CA3158131A1 (https=)
WO (1) WO2021077101A1 (https=)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN115927664A (zh) * 2022-11-09 2023-04-07 苏州赛美科基因科技有限公司 一种用于快速鉴定irf2bpl突变系斑马鱼基因型的引物及其应用

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PT728214E (pt) 1993-11-09 2004-11-30 Ohio Med College Linhas celulares estaveis capazes de expressar o gene de replicacao do virus adeno-associado
WO1995013365A1 (en) 1993-11-09 1995-05-18 Targeted Genetics Corporation Generation of high titers of recombinant aav vectors
US5658785A (en) 1994-06-06 1997-08-19 Children's Hospital, Inc. Adeno-associated virus materials and methods
US5856152A (en) 1994-10-28 1999-01-05 The Trustees Of The University Of Pennsylvania Hybrid adenovirus-AAV vector and methods of use therefor
CA2207927A1 (en) 1994-12-06 1996-06-13 Targeted Genetics Corporation Packaging cell lines for generation of high titers of recombinant aav vectors
FR2737730B1 (fr) 1995-08-10 1997-09-05 Pasteur Merieux Serums Vacc Procede de purification de virus par chromatographie
WO1997008298A1 (en) 1995-08-30 1997-03-06 Genzyme Corporation Chromatographic purification of adenovirus and aav
US6632670B1 (en) 1995-09-08 2003-10-14 Genzyme Corporation AAV vectors for gene therapy
US5910434A (en) 1995-12-15 1999-06-08 Systemix, Inc. Method for obtaining retroviral packaging cell lines producing high transducing efficiency retroviral supernatant
JP2001500497A (ja) 1996-09-06 2001-01-16 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 組換えアデノ随伴ウイルスに指図される遺伝子治療の方法
DK1009808T3 (da) 1997-09-05 2013-01-21 Genzyme Corp Fremgangsmåder til generering af hjælper-frie præparater af rekombinante aav-vektorer med høj titer
US6566118B1 (en) 1997-09-05 2003-05-20 Targeted Genetics Corporation Methods for generating high titer helper-free preparations of released recombinant AAV vectors
US6258595B1 (en) 1999-03-18 2001-07-10 The Trustees Of The University Of Pennsylvania Compositions and methods for helper-free production of recombinant adeno-associated viruses
US7056502B2 (en) 2000-04-28 2006-06-06 The Trustees Of The University Of Pennsylvania Recombinant aav vectors with AAV5 capsids and AAV5 vectors pseudotyped in heterologous capsids
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
JP2006296346A (ja) * 2005-04-22 2006-11-02 Kanazawa Univ 糖尿病の病態と関連して発現変動する遺伝子およびその利用
DE102012007232B4 (de) 2012-04-07 2014-03-13 Susanne Weller Verfahren zur Herstellung von rotierenden elektrischen Maschinen
JP2015092462A (ja) 2013-09-30 2015-05-14 Tdk株式会社 正極及びそれを用いたリチウムイオン二次電池
WO2015141521A1 (ja) 2014-03-21 2015-09-24 株式会社日立国際電気 基板処理装置、半導体装置の製造方法及び記録媒体
JP6197169B2 (ja) 2014-09-29 2017-09-20 東芝メモリ株式会社 半導体装置の製造方法
WO2016100575A1 (en) * 2014-12-16 2016-06-23 Board Of Regents Of The University Of Nebraska Gene therapy for juvenile batten disease
MX2018007330A (es) 2015-12-15 2019-03-14 Genzyme Corp Vectores virales adeno-asociados para tratar mucolipidosis de tipo ii.
JP7106534B2 (ja) 2016-11-17 2022-07-26 ネイションワイド チルドレンズ ホスピタル， インコーポレイテッド メチル－ｃｐｇ結合タンパク質２をコードする組換えアデノ随伴ウイルスの髄腔内送達

Also Published As

Publication number Publication date
EP4045662A1 (en) 2022-08-24
US20220389453A1 (en) 2022-12-08
JP2022552014A (ja) 2022-12-14
US12606846B2 (en) 2026-04-21
CA3158131A1 (en) 2021-04-22
JP7781057B2 (ja) 2025-12-05
WO2021077101A1 (en) 2021-04-22

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