KR20230038503A - 샤르코-마리-투스 질환의 치료에 유용한 조성물 - Google Patents

샤르코-마리-투스 질환의 치료에 유용한 조성물 Download PDF

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KR20230038503A
KR20230038503A KR1020237003861A KR20237003861A KR20230038503A KR 20230038503 A KR20230038503 A KR 20230038503A KR 1020237003861 A KR1020237003861 A KR 1020237003861A KR 20237003861 A KR20237003861 A KR 20237003861A KR 20230038503 A KR20230038503 A KR 20230038503A
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seq
leu
sequence
mirna
val
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Korean (ko)
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제임스 엠. 윌슨
크리스티안 힌더러
에일린 워크맨
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더 트러스티스 오브 더 유니버시티 오브 펜실베니아
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Publication of KR20230038503A publication Critical patent/KR20230038503A/ko
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    • 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
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    • A—HUMAN NECESSITIES
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    • 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
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    • 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
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    • 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
    • C12N15/1137—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 against enzymes
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y306/00—Hydrolases acting on acid anhydrides (3.6)
    • C12Y306/05—Hydrolases acting on acid anhydrides (3.6) acting on GTP; involved in cellular and subcellular movement (3.6.5)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K2300/00—Mixtures or combinations of active ingredients, wherein at least one active ingredient is fully defined in groups A61K31/00 - A61K41/00
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    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/12—Type of nucleic acid catalytic nucleic acids, e.g. ribozymes
    • C12N2310/122—Hairpin
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/14—Type of nucleic acid interfering nucleic acids [NA]
    • C12N2310/141—MicroRNAs, miRNAs
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    • 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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  • Wood Science & Technology (AREA)
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  • Pharmacology & Pharmacy (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Epidemiology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Acyclic And Carbocyclic Compounds In Medicinal Compositions (AREA)
KR1020237003861A 2020-07-13 2021-07-13 샤르코-마리-투스 질환의 치료에 유용한 조성물 Pending KR20230038503A (ko)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US202063051336P 2020-07-13 2020-07-13
US63/051,336 2020-07-13
US202163173045P 2021-04-09 2021-04-09
US63/173,045 2021-04-09
PCT/US2021/041406 WO2022015715A1 (en) 2020-07-13 2021-07-13 Compositions useful for treatment of charcot-marie-tooth disease

Publications (1)

Publication Number Publication Date
KR20230038503A true KR20230038503A (ko) 2023-03-20

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KR1020237003861A Pending KR20230038503A (ko) 2020-07-13 2021-07-13 샤르코-마리-투스 질환의 치료에 유용한 조성물

Country Status (14)

Country Link
US (1) US20230270884A1 (https=)
EP (1) EP4179097A1 (https=)
JP (1) JP2023534037A (https=)
KR (1) KR20230038503A (https=)
CN (1) CN116438311A (https=)
AU (1) AU2021309645A1 (https=)
BR (1) BR112023000578A2 (https=)
CA (1) CA3185281A1 (https=)
CO (1) CO2023001500A2 (https=)
IL (1) IL299762A (https=)
MX (1) MX2023000658A (https=)
TW (1) TW202216244A (https=)
WO (1) WO2022015715A1 (https=)
ZA (1) ZA202300505B (https=)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB201907882D0 (en) 2019-06-03 2019-07-17 Cyprus Foundation For Muscular Dystrophy Res Methods
WO2023049846A1 (en) * 2021-09-24 2023-03-30 The Trustees Of The University Of Pennsylvania Compositions useful for treatment of charcot-marie-tooth disease
WO2024130070A2 (en) 2022-12-17 2024-06-20 The Trustees Of The University Of Pennsylvania Recombinant aav capsids with cardiac- and skeletal muscle- specific targeting motifs and uses thereof
EP4634394A2 (en) 2022-12-17 2025-10-22 The Trustees of The University of Pennsylvania Recombinant aav mutant vectors with cardiac and skeletal muscle-specific targeting motifs and compositions containing same
WO2024155966A1 (en) * 2023-01-20 2024-07-25 Loma Linda University Health Methods and compositions for treatment of niemann-pick disease type c and charcot-marie-tooth disease
WO2024261139A1 (en) 2023-06-21 2024-12-26 Fundació Institut De Recerca Biomèdica (Irb Barcelona) Variants of mfn2 and their use in the treatment/prevention of diseases associated with alterations in endoplasmatic reticulum function
TW202516019A (zh) 2023-06-29 2025-04-16 賓州大學委員會 具中樞神經系統靶向模體的突變aav及含有其之組成物
WO2025106661A1 (en) 2023-11-14 2025-05-22 The Trustees Of The University Of Pennsylvania Compositions with cardiac and skeletal musclespecific targeting motifs and uses thereof

Family Cites Families (25)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6759237B1 (en) 1998-11-05 2004-07-06 The Trustees Of The University Of Pennsylvania Adeno-associated virus serotype 1 nucleic acid sequences, vectors and host cells containing same
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
US20130037977A1 (en) 2010-04-08 2013-02-14 Paul A. Burke Preparation of Lipid Nanoparticles
US8853377B2 (en) 2010-11-30 2014-10-07 Shire Human Genetic Therapies, Inc. mRNA for use in treatment of human genetic diseases
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
EP4331620A3 (en) 2012-12-07 2024-12-04 Translate Bio, Inc. Lipidic nanoparticles for mrna delivery
AU2014348212C1 (en) 2013-11-18 2018-11-29 Arcturus Therapeutics, Inc. Ionizable cationic lipid for RNA delivery
WO2017100674A1 (en) 2015-12-11 2017-06-15 The Trustees Of The University Of Pennsylvania Scalable purification method for aav1
EP3387138B1 (en) 2015-12-11 2022-01-26 The Trustees Of The University Of Pennsylvania Scalable purification method for aav9
ES2934848T3 (es) 2015-12-11 2023-02-27 Univ Pennsylvania Método de purificación escalable para AAV8
US11028372B2 (en) 2015-12-11 2021-06-08 The Trustees Of The University Of Pennsylvania Scalable purification method for AAVRH10
PT3589730T (pt) 2017-02-28 2024-02-28 Univ Pennsylvania Vetor de vírus adenoassociado (aav) de clado f e suas utilizações
WO2018168961A1 (ja) 2017-03-16 2018-09-20 株式会社デンソー 自己位置推定装置
EP3768695A4 (en) 2018-02-27 2022-04-06 The Trustees of the University of Pennsylvania NOVEL ADENO-ASSOCIATED VIRUS (AAV) VECTORS, AAV VECTORS WITH REDUCED CAPSIID DEAMIDATION AND USES THEREOF
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
WO2020047268A1 (en) * 2018-08-29 2020-03-05 Research Institute At Nationwide Children's Hospital Products and methods for inhibition of expression of mutant gars protein
WO2020132455A1 (en) 2018-12-21 2020-06-25 The Trustees Of The University Of Pennsylvania Compositions for drg-specific reduction of transgene expression

Also Published As

Publication number Publication date
EP4179097A1 (en) 2023-05-17
CN116438311A (zh) 2023-07-14
BR112023000578A2 (pt) 2023-05-09
TW202216244A (zh) 2022-05-01
IL299762A (en) 2023-03-01
JP2023534037A (ja) 2023-08-07
ZA202300505B (en) 2023-09-27
CO2023001500A2 (es) 2023-05-19
AU2021309645A1 (en) 2023-02-09
US20230270884A1 (en) 2023-08-31
CA3185281A1 (en) 2022-01-20
WO2022015715A1 (en) 2022-01-20
MX2023000658A (es) 2023-02-23

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