CN107429252B - 优化的rpe65启动子和编码序列 - Google Patents

优化的rpe65启动子和编码序列 Download PDF

Info

Publication number
CN107429252B
CN107429252B CN201680020425.6A CN201680020425A CN107429252B CN 107429252 B CN107429252 B CN 107429252B CN 201680020425 A CN201680020425 A CN 201680020425A CN 107429252 B CN107429252 B CN 107429252B
Authority
CN
China
Prior art keywords
sequence
aav
seq
vector
promoter
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.)
Active
Application number
CN201680020425.6A
Other languages
English (en)
Chinese (zh)
Other versions
CN107429252A (zh
Inventor
A·史密斯
R·阿里
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.)
UCL Business Ltd
Original Assignee
UCL Business Ltd
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 UCL Business Ltd filed Critical UCL Business Ltd
Publication of CN107429252A publication Critical patent/CN107429252A/zh
Application granted granted Critical
Publication of CN107429252B publication Critical patent/CN107429252B/zh
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Images

Classifications

    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P17/00—Drugs for dermatological disorders
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P27/00—Drugs for disorders of the senses
    • A61P27/02—Ophthalmic agents
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P9/00—Drugs for disorders of the cardiovascular system
    • A61P9/10—Drugs for disorders of the cardiovascular system for treating ischaemic or atherosclerotic diseases, e.g. antianginal drugs, coronary vasodilators, drugs for myocardial infarction, retinopathy, cerebrovascula insufficiency, renal arteriosclerosis
    • 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
    • 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
    • C12N15/8509—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells for producing genetically modified animals, e.g. transgenic
    • 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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C12N9/18—Carboxylic ester hydrolases (3.1.1)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y301/00—Hydrolases acting on ester bonds (3.1)
    • C12Y301/01—Carboxylic ester hydrolases (3.1.1)
    • C12Y301/01064—Retinoid isomerohydrolase (3.1.1.64)
    • 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
    • C12N15/861—Adenoviral 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
    • C12N15/63—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
    • C12N15/8509—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells for producing genetically modified animals, e.g. transgenic
    • C12N2015/8518—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells for producing genetically modified animals, e.g. transgenic expressing industrially exogenous proteins, e.g. for pharmaceutical use, human insulin, blood factors, immunoglobulins, pseudoparticles
    • 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
    • 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
    • C12N2830/00—Vector systems having a special element relevant for transcription
    • C12N2830/008—Vector systems having a special element relevant for transcription cell type or tissue specific enhancer/promoter combination

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Microbiology (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Epidemiology (AREA)
  • Urology & Nephrology (AREA)
  • Virology (AREA)
  • Vascular Medicine (AREA)
  • Cardiology (AREA)
  • Heart & Thoracic Surgery (AREA)
  • Ophthalmology & Optometry (AREA)
  • Dermatology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
  • Eye Examination Apparatus (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
CN201680020425.6A 2015-02-09 2016-02-08 优化的rpe65启动子和编码序列 Active CN107429252B (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
GBGB1502137.1A GB201502137D0 (en) 2015-02-09 2015-02-09 Treatment
GB1502137.1 2015-02-09
PCT/GB2016/050289 WO2016128722A1 (en) 2015-02-09 2016-02-08 Optimized rpe65 promoter and coding sequences

Publications (2)

Publication Number Publication Date
CN107429252A CN107429252A (zh) 2017-12-01
CN107429252B true CN107429252B (zh) 2022-03-29

Family

ID=52746363

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201680020425.6A Active CN107429252B (zh) 2015-02-09 2016-02-08 优化的rpe65启动子和编码序列

Country Status (24)

Country Link
US (3) US10568973B2 (enExample)
EP (2) EP3256169B1 (enExample)
JP (1) JP6963503B2 (enExample)
CN (1) CN107429252B (enExample)
AU (1) AU2016217654B2 (enExample)
BR (1) BR112017017060A2 (enExample)
CA (1) CA2975850C (enExample)
CY (1) CY1123947T1 (enExample)
DK (1) DK3256169T3 (enExample)
ES (1) ES2830030T3 (enExample)
GB (1) GB201502137D0 (enExample)
HR (1) HRP20201831T1 (enExample)
HU (1) HUE052407T2 (enExample)
IL (2) IL287142B2 (enExample)
LT (1) LT3256169T (enExample)
MX (2) MX383316B (enExample)
PH (1) PH12017501430A1 (enExample)
PL (1) PL3256169T3 (enExample)
PT (1) PT3256169T (enExample)
RS (1) RS61079B1 (enExample)
SG (1) SG11201706520UA (enExample)
SI (1) SI3256169T1 (enExample)
SM (1) SMT202000655T1 (enExample)
WO (1) WO2016128722A1 (enExample)

Families Citing this family (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB201502137D0 (en) * 2015-02-09 2015-03-25 Ucl Business Plc Treatment
GB201508026D0 (en) 2015-05-11 2015-06-24 Ucl Business Plc Capsid
MX2018013205A (es) * 2016-04-28 2019-06-24 Spark Therapeutics Inc Ensayo de potencia relativa para un vector viral que codifica isomero hidrolasas.
WO2019106035A1 (en) * 2017-11-30 2019-06-06 Friedrich Miescher Institute For Biomedical Research Synpiii, a promoter for the specific expression of genes in retinal pigment epithelium
CN111118017B (zh) * 2018-11-01 2023-10-03 上海朗昇生物科技有限公司 治疗Leber先天性黑蒙症的载体及其应用
PT3850089T (pt) 2019-02-04 2024-01-24 Freeline Therapeutics Ltd Polinucleótidos
GB202002202D0 (en) 2020-02-18 2020-04-01 Ucl Business Plc Gene therapy
CN113952471A (zh) * 2020-07-21 2022-01-21 英斯培瑞有限公司 用于治疗眼部疾病的组合物和方法
EP4185335A1 (en) * 2020-07-21 2023-05-31 Frontera Therapeutics, Inc. Compositions and methods for the treatment of ocular diseases
CN111826378B (zh) * 2020-08-05 2022-05-27 武汉纽福斯生物科技有限公司 一种编码人受体酪氨酸激酶Mer的核苷酸序列及其应用
CN112522292B (zh) * 2020-10-29 2023-05-02 南京启真基因工程有限公司 一种用于构建先天性黑蒙症克隆猪核供体细胞的CRISPR/Cas9系统及其应用
EP4399314A4 (en) * 2021-09-06 2025-09-10 Huidagene Therapeutics Singapore Pte Ltd TREATMENT OF EYE DISEASES AND DISORDERS ASSOCIATED WITH RPE65
CN120882416A (zh) * 2023-01-05 2025-10-31 欧普斯遗传学股份有限公司 用于眼部疾病的基因疗法
CN117018235A (zh) * 2023-06-20 2023-11-10 浙江大学 一种可用于活体的可视化神经环路的方法及工具病毒载体
CN116898991A (zh) * 2023-06-20 2023-10-20 浙江大学 一种可用于活体的可视化的神经活动状态评估方法及工具病毒载体

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20080064061A1 (en) 2004-08-06 2008-03-13 Juridical Foundation The Chemo-Sero-Therapeutic Research Institute Yeast Promoter
US7740836B2 (en) 2006-05-03 2010-06-22 Fondazione Telethon Methods and compositions for recovering or improving visual function
US20100081707A1 (en) * 2008-02-21 2010-04-01 Ali Robin R Devices and methods for delivering polynucleotides into retinal cells of the macula and fovea
LT3418300T (lt) 2011-07-18 2021-01-11 Institute For Research In Biomedicine Neutralizuojantys antikūnai prieš gripo virusą a ir jų panaudojimas
US9163259B2 (en) * 2012-05-04 2015-10-20 Novartis Ag Viral vectors for the treatment of retinal dystrophy
TWI698240B (zh) * 2012-05-15 2020-07-11 澳大利亞商艾佛蘭屈澳洲私營有限公司 使用腺相關病毒(aav)sflt-1治療老年性黃斑部退化(amd)
GB201502137D0 (en) * 2015-02-09 2015-03-25 Ucl Business Plc Treatment
GB202002073D0 (en) * 2020-02-14 2020-04-01 Ucl Business Ltd Horizontal cells
GB202002202D0 (en) * 2020-02-18 2020-04-01 Ucl Business Plc Gene therapy

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
Effect of gene therapy on visual function in Leber"s congenital amaurosis;James W B Bainbridge et al.;《The new england journal of medicine》;20080427;第358卷(第21期);2231-2239 *
Genbank：NG_008472.1;Genbank;《Genbank》;20140518;全文 *
Genbank：NP_000320.1;Genbank;《Genbank》;20140515;全文 *
Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium;G Le Meur et al.;《Gene Therapy》;20061105;第14卷(第4期);292-303 *

Also Published As

Publication number Publication date
US10568973B2 (en) 2020-02-25
DK3256169T3 (da) 2020-11-23
SG11201706520UA (en) 2017-09-28
HUE052407T2 (hu) 2021-04-28
EP3769790A1 (en) 2021-01-27
US20180021458A1 (en) 2018-01-25
HRP20201831T1 (hr) 2021-01-08
PT3256169T (pt) 2020-11-04
CY1123947T1 (el) 2022-03-24
IL253915A0 (en) 2017-10-31
CN107429252A (zh) 2017-12-01
GB201502137D0 (en) 2015-03-25
IL287142A (en) 2021-12-01
AU2016217654B2 (en) 2021-12-09
EP3256169B1 (en) 2020-09-02
SI3256169T1 (sl) 2021-01-29
US11969478B2 (en) 2024-04-30
NZ735329A (en) 2024-08-30
JP6963503B2 (ja) 2021-11-10
IL253915B (en) 2021-10-31
MX2017010292A (es) 2018-03-23
PH12017501430A1 (en) 2018-01-15
RS61079B1 (sr) 2020-12-31
US20200179535A1 (en) 2020-06-11
EP3256169A1 (en) 2017-12-20
PL3256169T3 (pl) 2021-05-04
BR112017017060A2 (pt) 2018-04-10
IL287142B1 (en) 2023-07-01
JP2018510620A (ja) 2018-04-19
US20240293580A1 (en) 2024-09-05
MX383316B (es) 2025-03-13
AU2016217654A1 (en) 2017-09-28
HK1248525A1 (zh) 2018-10-19
LT3256169T (lt) 2021-01-11
WO2016128722A1 (en) 2016-08-18
ES2830030T3 (es) 2021-06-02
CA2975850C (en) 2024-06-18
IL287142B2 (en) 2023-11-01
CA2975850A1 (en) 2016-08-18
MX2021006762A (es) 2021-07-15
SMT202000655T1 (it) 2021-01-05

Similar Documents

Publication Publication Date Title
CN107429252B (zh) 优化的rpe65启动子和编码序列
Ramlogan‐Steel et al. Gene therapy and the adeno‐associated virus in the treatment of genetic and acquired ophthalmic diseases in humans: trials, future directions and safety considerations
JP7572990B2 (ja) Ｒｄｈ１２が関与する疾患及び疾病を治療する方法及び組成物
JP2019523648A (ja) Ａｂｃ４ａを発現させるためのデュアル重複アデノ随伴ウイルスベクターシステム
US20250290096A1 (en) Gene therapy to improve vision
CA3096088A1 (en) Compositions and methods for treating macular dystrophy
JP7289306B2 (ja) 網膜障害を治療するための組成物及び方法
WO2020167770A1 (en) Txnip and ldhb compositions and methods for the treatment of degenerative ocular diseases
EP3630986A1 (en) Gene therapy for treating peroxisomal disorders
HK40045081A (en) Optimized rpe65 promoter and coding sequences
JP2021520231A (ja) シュタルガルト病の処置のための組成物及び方法
US20240191257A1 (en) Gene Therapy for Retinal Disease
HK1248525B (en) Optimized rpe65 promoter and coding sequences
Gupte Development of an AAV-Based Gene Therapy for the Ocular Phenotype of Friedreich’s Ataxia
HK40013460A (en) Methods and compositions for treatment of disorders and diseases involving rdh12
HK1248595B (en) Gene therapy to improve vision

Legal Events

Date Code Title Description
PB01 Publication
PB01 Publication
SE01 Entry into force of request for substantive examination
SE01 Entry into force of request for substantive examination
CB02 Change of applicant information

Address after: London, England

Applicant after: UCL Business Co.,Ltd.

Address before: London, England

Applicant before: UCL BUSINESS PLC

CB02 Change of applicant information
GR01 Patent grant
GR01 Patent grant
TG01 Patent term adjustment
TG01 Patent term adjustment