JP7769355B2 - ミトコンドリアｄｎａ枯渇症候群を含む不均衡ヌクレオチドプールに起因する疾患の遺伝子治療 - Google Patents

ミトコンドリアｄｎａ枯渇症候群を含む不均衡ヌクレオチドプールに起因する疾患の遺伝子治療

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JP7769355B2
JP7769355B2 JP2020557222A JP2020557222A JP7769355B2 JP 7769355 B2 JP7769355 B2 JP 7769355B2 JP 2020557222 A JP2020557222 A JP 2020557222A JP 2020557222 A JP2020557222 A JP 2020557222A JP 7769355 B2 JP7769355 B2 JP 7769355B2
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acid sequence
nucleic acid
amino acid
seq
day
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JP2021522173A5 (enExample
JP2021522173A (ja
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ヒラノ，ミチオ
アクマン，ハサン，オー．
ロペス－ゴメス，カルロス
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Columbia University
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    • A61K31/7064—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines
    • A61K31/7068—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines having oxo groups directly attached to the pyrimidine ring, e.g. cytidine, cytidylic acid
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    • A61K31/7072—Compounds having saccharide radicals and heterocyclic rings having nitrogen as a ring hetero atom, e.g. nucleosides, nucleotides containing six-membered rings with nitrogen as a ring hetero atom containing condensed or non-condensed pyrimidines having oxo groups directly attached to the pyrimidine ring, e.g. cytidine, cytidylic acid having two oxo groups directly attached to the pyrimidine ring, e.g. uridine, uridylic acid, thymidine, zidovudine
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    • C12N9/1205—Phosphotransferases with an alcohol group as acceptor (2.7.1), e.g. protein kinases
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JP2020557222A 2018-04-18 2019-04-18 ミトコンドリアｄｎａ枯渇症候群を含む不均衡ヌクレオチドプールに起因する疾患の遺伝子治療 Active JP7769355B2 (ja)

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US201862659281P 2018-04-18 2018-04-18
US62/659,281 2018-04-18
PCT/US2019/028108 WO2019204593A1 (en) 2018-04-18 2019-04-18 Gene therapy for diseases caused by unbalanced nucleotide pools including mitochondrial dna depletion syndromes

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JP2021522173A JP2021522173A (ja) 2021-08-30
JP2021522173A5 JP2021522173A5 (enExample) 2022-04-18
JP7769355B2 true JP7769355B2 (ja) 2025-11-13

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US (1) US12419970B2 (enExample)
EP (1) EP3781671A4 (enExample)
JP (1) JP7769355B2 (enExample)
KR (1) KR20210009317A (enExample)
CN (1) CN112312929A (enExample)
AU (1) AU2019255745A1 (enExample)
BR (1) BR112020021324A2 (enExample)
CA (1) CA3097392A1 (enExample)
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Families Citing this family (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9549909B2 (en) 2013-05-03 2017-01-24 The Katholieke Universiteit Leuven Method for the treatment of dravet syndrome
DK3800177T3 (da) 2015-12-22 2025-03-31 Zogenix International Ltd Fenfluramin-sammensætninger og fremgangsmåder til fremstilling af samme
US10689324B2 (en) 2015-12-22 2020-06-23 Zogenix International Limited Metabolism resistant fenfluramine analogs and methods of using the same
RU2021106383A (ru) 2016-08-24 2021-04-05 Зодженикс Интернэшнл Лимитед Состав для ингибирования образования агонистов 5-ht2b и способы его применения
US10682317B2 (en) 2017-09-26 2020-06-16 Zogenix International Limited Ketogenic diet compatible fenfluramine formulation
CA3097335A1 (en) 2018-05-11 2019-11-14 Zogenix International Limited Compositions and methods for treating seizure-induced sudden death
WO2020105005A1 (en) 2018-11-19 2020-05-28 Zogenix International Limited Methods of treating rett syndrome using fenfluramine
WO2021102104A1 (en) * 2019-11-20 2021-05-27 University Of Massachusetts Aav-based delivery of thymine kinase 2
US11612574B2 (en) 2020-07-17 2023-03-28 Zogenix International Limited Method of treating patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
US20220096514A1 (en) * 2020-09-29 2022-03-31 Zogenix International Limited Methods of treating thymidine kinase 2 deficiency by administering deoxycytidine and deoxythymidine
WO2022204555A1 (en) * 2021-03-26 2022-09-29 Zogenix Mds, Inc. Aqueous solutions containing purines and pyrimidines and uses thereof
KR102962433B1 (ko) * 2023-06-30 2026-05-08 사회복지법인 삼성생명공익재단 Hydra NDi1가 탑재된 재조합 아데노부속바이러스 벡터를 포함하는, 미토콘드리아 복합체 1 이상질환의 예방, 개선 또는 치료용 조성물
CN120060299B (zh) * 2025-02-21 2025-11-28 三峡大学 一种密码子优化的twnk基因、腺相关病毒载体及其应用

Family Cites Families (20)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5252334A (en) 1989-09-08 1993-10-12 Cygnus Therapeutic Systems Solid matrix system for transdermal drug delivery
US5478745A (en) 1992-12-04 1995-12-26 University Of Pittsburgh Recombinant viral vector system
US5658785A (en) 1994-06-06 1997-08-19 Children's Hospital, Inc. Adeno-associated virus materials and methods
US5843742A (en) 1994-12-16 1998-12-01 Avigen Incorporated Adeno-associated derived vector systems for gene delivery and integration into target cells
US5697899A (en) 1995-02-07 1997-12-16 Gensia Feedback controlled drug delivery system
US6001650A (en) 1995-08-03 1999-12-14 Avigen, Inc. High-efficiency wild-type-free AAV helper functions
JPH11514853A (ja) 1995-09-08 1999-12-21 ジエンザイム コーポレイション 遺伝子治療のための改良されたａａｖベクター
US5656016A (en) 1996-03-18 1997-08-12 Abbott Laboratories Sonophoretic drug delivery system
US5797898A (en) 1996-07-02 1998-08-25 Massachusetts Institute Of Technology Microchip drug delivery devices
US5783208A (en) 1996-07-19 1998-07-21 Theratech, Inc. Transdermal drug delivery matrix for coadministering estradiol and another steroid
US5779708A (en) 1996-08-15 1998-07-14 Cyberdent, Inc. Intraosseous drug delivery device and method
CA2264482A1 (en) 1996-09-06 1998-03-12 The Trustees Of The University Of Pennsylvania An inducible method for production of recombinant adeno-associated viruses utilizing t7 polymerase
US6156303A (en) 1997-06-11 2000-12-05 University Of Washington Adeno-associated virus (AAV) isolates and AAV vectors derived therefrom
EP1668143B1 (en) 2003-09-30 2013-03-20 The Trustees of The University of Pennsylvania Adeno-associated virus (aav) clades, sequences, vectors containing same, and uses therefor
DE23193606T1 (de) 2005-04-07 2024-02-15 The Trustees Of The University Of Pennsylvania Verfahren zur erhöhung der funktion eines aav-vektors
EP2009990B1 (en) * 2006-04-07 2016-09-21 The Board of Regents of The University of Texas System Methods and compositions related to adenoassociated virus-phage particles
FR3004463A1 (fr) * 2013-04-11 2014-10-17 Genethon Systeme d'expression pour une therapie genique selective
US10292996B2 (en) * 2015-03-26 2019-05-21 The Trustees Of Columbia University In The City Of New York Deoxyribonucleoside monophospate bypass therapy for mitochondrial DNA depletion syndrome
WO2016205671A1 (en) 2015-06-17 2016-12-22 The Trustees Of Columbia University In The City Of New York Deoxynucleoside therapy for diseases caused by unbalanced nucleotide pools including mitochondrial dna depletion syndromes
WO2017191274A2 (en) * 2016-05-04 2017-11-09 Curevac Ag Rna encoding a therapeutic protein

Non-Patent Citations (5)

* Cited by examiner, † Cited by third party
Title
Clinical and Translational Science, 2017, Vol.10, No.4, pp.242-248
Molecular Genetics and Metabolism, 2017, Vol.122, No.3, pp.1-9
Molecular Therapy, 2014, Vo.22, No.1, pp.10-17
Organic & Biomolecular Chemistry, 2011, Vol.9, No.3, pp.892-901
The Journal of Biological Chemistry, 2014, Vol.289, No.47, pp.32835-32844

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US12419970B2 (en) 2025-09-23
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BR112020021324A2 (pt) 2021-01-19
EP3781671A1 (en) 2021-02-24
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