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

샤르코-마리-투스 질환의 치료에 유용한 조성물 Download PDF

Info

Publication number
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
Authority
KR
South Korea
Prior art keywords
seq
leu
sequence
mirna
val
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
KR1020237003861A
Other languages
English (en)
Korean (ko)
Inventor
제임스 엠. 윌슨
크리스티안 힌더러
에일린 워크맨
Original Assignee
더 트러스티스 오브 더 유니버시티 오브 펜실베니아
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 더 트러스티스 오브 더 유니버시티 오브 펜실베니아 filed Critical 더 트러스티스 오브 더 유니버시티 오브 펜실베니아
Publication of KR20230038503A publication Critical patent/KR20230038503A/ko
Pending legal-status Critical Current

Links

Images

Classifications

    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
    • A61K45/06—Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
    • 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
    • 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
    • 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
    • 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
    • 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
    • C12N9/14—Hydrolases (3)
    • C—CHEMISTRY; METALLURGY
    • 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
    • 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
    • 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
    • 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
    • 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
    • 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)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biomedical Technology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Medicinal Chemistry (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Epidemiology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (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

Family

ID=77317406

Family Applications (1)

Application Number Title Priority Date Filing Date
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
KR20250135916A (ko) 2022-12-17 2025-09-15 더 트러스티스 오브 더 유니버시티 오브 펜실베니아 심장 및 골격근 특이적 표적화 모티프를 갖는 재조합 aav 돌연변이체 벡터 및 이를 포함하는 조성물
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
EP4731642A1 (en) 2023-06-21 2026-04-29 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
AR133098A1 (es) 2023-06-29 2025-08-27 Univ Pennsylvania Aav mutante con motivos dirigidos al sistema nervioso central y composiciones que lo contienen
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
NZ532635A (en) 2001-11-13 2007-05-31 Univ Pennsylvania A method of identifying unknown adeno-associated virus (AAV) sequences and a kit for the method
DK2359869T3 (en) 2001-12-17 2019-04-15 Univ Pennsylvania Sequences of adeno-associated virus (AAV) serotype 8, vectors containing these, and uses thereof
CN1856576B (zh) 2003-09-30 2011-05-04 宾夕法尼亚州立大学托管会 腺伴随病毒(aav)进化支、序列、含有这些序列的载体及它们的应用
WO2006110689A2 (en) 2005-04-07 2006-10-19 The Trustees Of The University Of Pennsylvania Method of increasing the function of an aav vector
US7588772B2 (en) 2006-03-30 2009-09-15 Board Of Trustees Of The Leland Stamford Junior University AAV capsid library and AAV capsid proteins
ES2646630T3 (es) 2008-11-07 2017-12-14 Massachusetts Institute Of Technology Lipidoides aminoalcohólicos y usos de los mismos
US20130023033A1 (en) 2010-03-29 2013-01-24 The Trustees Of The University Of Pennsylvania Pharmacologically induced transgene ablation system
EP2558074B1 (en) 2010-04-08 2018-06-06 The Trustees of Princeton University Preparation of lipid nanoparticles
WO2012075040A2 (en) 2010-11-30 2012-06-07 Shire Human Genetic Therapies, Inc. mRNA FOR USE IN TREATMENT OF HUMAN GENETIC DISEASES
PL3586861T3 (pl) 2011-06-08 2022-05-23 Translate Bio, Inc. Kompozycje nanocząstek lipidowych i sposoby dostarczania mrna
FR2977562B1 (fr) 2011-07-06 2016-12-23 Gaztransport Et Technigaz Cuve etanche et thermiquement isolante integree dans une structure porteuse
EA037448B1 (ru) 2012-06-08 2021-03-30 Этрис Гмбх Способ доставки в легкие терапевтической мрнк с pei и фармацевтическая композиция
EP4331620A3 (en) 2012-12-07 2024-12-04 Translate Bio, Inc. Lipidic nanoparticles for mrna delivery
US9593077B2 (en) 2013-11-18 2017-03-14 Arcturus Therapeutics, Inc. Ionizable cationic lipid for RNA delivery
US11015173B2 (en) 2015-12-11 2021-05-25 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
WO2017100676A1 (en) 2015-12-11 2017-06-15 The Trustees Of The University Of Pennsylvania Scalable purification method for aav8
US11028372B2 (en) 2015-12-11 2021-06-08 The Trustees Of The University Of Pennsylvania Scalable purification method for AAVRH10
JP7455579B2 (ja) 2017-02-28 2024-03-26 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 新規アデノ随伴ウイルス（ａａｖ）クレードｆベクター及びその用途
WO2018168961A1 (ja) 2017-03-16 2018-09-20 株式会社デンソー 自己位置推定装置
MX2020008932A (es) 2018-02-27 2020-10-01 Univ Pennsylvania Novedosos vectores de virus adenoasociado (aav), vectores de aav que tienen una desamidacion reducida de la capside y usos de estos.
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
JP2021534794A (ja) * 2018-08-29 2021-12-16 リサーチ インスティチュート アット ネイションワイド チルドレンズ ホスピタル 変異型ｇａｒｓタンパク質の発現を阻害するための生成物および方法
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
CN116438311A (zh) 2023-07-14
CO2023001500A2 (es) 2023-05-19
CA3185281A1 (en) 2022-01-20
JP2023534037A (ja) 2023-08-07
EP4179097A1 (en) 2023-05-17
AU2021309645A1 (en) 2023-02-09
IL299762A (en) 2023-03-01
ZA202300505B (en) 2023-09-27
TW202216244A (zh) 2022-05-01
US20230270884A1 (en) 2023-08-31
WO2022015715A1 (en) 2022-01-20
BR112023000578A2 (pt) 2023-05-09
MX2023000658A (es) 2023-02-23

Similar Documents

Publication Publication Date Title
KR20230038503A (ko) 샤르코-마리-투스 질환의 치료에 유용한 조성물
CN111356763B (zh) 变体RNAi
KR102823833B1 (ko) 뮤코다당류증 iiia형에 대한 유전자 요법
JP2016517278A (ja) スタッファー／フィラーポリヌクレオチド配列を含むベクターおよびその使用方法
TW202108760A (zh) 有用於治療異染性白質失養症之組成物
CN113710281A (zh) 用于治疗grn相关成人发作性神经退行性病变的重组腺相关病毒
WO2018187552A9 (en) Minigene therapy
KR20220105158A (ko) 이식유전자 발현의 drg-특이적 감소를 위한 조성물
CN116685329B (zh) 核酸构建体及其用于治疗脊髓性肌肉萎缩症的用途
KR20190016509A (ko) 최적화된 cln1 유전자 및 발현 카세트 및 그의 용도
CN116209430A (zh) 囊泡靶向蛋白及其用途
KR20230117731A (ko) 청력 상실의 치료를 위한 변이체 아데노-연관된 바이러스(aav) 캡시드 폴리펩티드 및 이의 유전자 치료제
CN115029360B (zh) 用于治疗粘多糖贮积症iiia型的转基因表达盒
KR20210132095A (ko) 크라베병의 치료에 유용한 조성물
CN118401667A (zh) 用于治疗cdkl5缺乏症(cdd)的组合物
EP3630986B1 (en) Gene therapy for treating peroxisomal disorders
US20240401078A1 (en) Compositions useful for treatment of charcot-marie-tooth disease
KR20220145838A (ko) Gm1 강글리오사이드증을 치료하는 데 유용한 조성물
US20240191258A1 (en) Compositions useful for treating spinal and bulbar muscular atrophy (sbma)
US20240033375A1 (en) Compositions useful for treating spinal and bulbar muscular atrophy (sbma)
TW202340467A (zh) 有用於治療c9orf72介導之病症之組成物及方法
CN116057175A (zh) 可用于治疗克拉伯病的组合物
WO2025016362A1 (zh) 基于脑内磷稳态促进剂的疗法
CN116670159A (zh) 组合物及其用于治疗安格尔曼综合征的用途
WO2022147490A1 (en) Optimized fukutin-related proteins (fkrp) and methods of use

Legal Events

Date Code Title Description
PA0105 International application

Patent event date: 20230202

Patent event code: PA01051R01D

Comment text: International Patent Application

PG1501 Laying open of application
A201 Request for examination
PA0201 Request for examination

Patent event code: PA02012R01D

Patent event date: 20240712

Comment text: Request for Examination of Application