CN116171325A - 用于eEF1A2的基因疗法载体及其用途 - Google Patents

用于eEF1A2的基因疗法载体及其用途 Download PDF

Info

Publication number
CN116171325A
CN116171325A CN202180056421.4A CN202180056421A CN116171325A CN 116171325 A CN116171325 A CN 116171325A CN 202180056421 A CN202180056421 A CN 202180056421A CN 116171325 A CN116171325 A CN 116171325A
Authority
CN
China
Prior art keywords
promoter
eef1a2
polynucleotide sequence
raav
seq
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
CN202180056421.4A
Other languages
English (en)
Chinese (zh)
Inventor
S·N·沃丁顿
R·卡达
C·D·赫尔佐格
J·恩格
C·萨克拉门多
S·肖尔格
D·里克斯
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 CN116171325A publication Critical patent/CN116171325A/zh
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
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/0008—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 'non-active' part of the composition delivered, e.g. wherein such 'non-active' part is not delivered simultaneously with the 'active' part of the composition
    • A61K48/0025—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 'non-active' part of the composition delivered, e.g. wherein such 'non-active' part is not delivered simultaneously with the 'active' part of the composition wherein the non-active part clearly interacts with the delivered nucleic acid
    • A61K48/0041—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 'non-active' part of the composition delivered, e.g. wherein such 'non-active' part is not delivered simultaneously with the 'active' part of the composition wherein the non-active part clearly interacts with the delivered nucleic acid the non-active part being polymeric
    • 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
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
    • 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
    • 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
    • C07K14/575—Hormones
    • C07K14/61—Growth hormone [GH], i.e. somatotropin
    • 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
    • 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
    • C12N2750/14171—Demonstrated in vivo effect
    • 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
    • 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
    • C12N2830/48—Vector systems having a special element relevant for transcription regulating transport or export of RNA, e.g. RRE, PRE, WPRE, CTE
    • 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
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Biomedical Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Medicinal Chemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Biophysics (AREA)
  • Epidemiology (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Endocrinology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Psychiatry (AREA)
  • Hospice & Palliative Care (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)
CN202180056421.4A 2020-07-23 2021-07-21 用于eEF1A2的基因疗法载体及其用途 Pending CN116171325A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063055775P 2020-07-23 2020-07-23
US63/055,775 2020-07-23
PCT/EP2021/070455 WO2022018171A1 (en) 2020-07-23 2021-07-21 GENE THERAPY VECTOR FOR eEF1A2 AND USES THEREOF

Publications (1)

Publication Number Publication Date
CN116171325A true CN116171325A (zh) 2023-05-26

Family

ID=71786970

Family Applications (1)

Application Number Title Priority Date Filing Date
CN202180056421.4A Pending CN116171325A (zh) 2020-07-23 2021-07-21 用于eEF1A2的基因疗法载体及其用途

Country Status (10)

Country Link
US (1) US20230330265A1 (https=)
EP (1) EP4185332A1 (https=)
JP (1) JP2023535576A (https=)
KR (1) KR20230039669A (https=)
CN (1) CN116171325A (https=)
AU (1) AU2021312320A1 (https=)
CA (1) CA3186700A1 (https=)
IL (1) IL299955A (https=)
MX (1) MX2023000995A (https=)
WO (2) WO2022017630A1 (https=)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3021572A1 (en) 2016-04-20 2017-10-26 Centro De Investigaciones Energeticas, Medioambientales Y Tecnologicas Compositions and methods for enhanced gene expression of pklr
EP3697452A4 (en) 2017-10-16 2021-11-24 Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, O.A., M.P. LENTIVIRAL VECTORS FOR ADMINISTRATION OF PKLR TO TREAT PYRUVATE KINASE DEFECTS
BR112020020841A2 (pt) 2018-04-11 2021-01-19 Fundacion Para La Investigacion Biomedica Del Hospital Infantil Universitario Nino Jesus Composições e métodos para transplante de célulastronco
CA3096293A1 (en) 2018-04-27 2019-10-31 Rocket Pharmaceuticals, Ltd. Gene therapy for cns degeneration
JP2023538519A (ja) 2020-08-07 2023-09-08 スペースクラフト セブン リミテッド ライアビリティ カンパニー Ａａｖベクターを使用したプラコフィリン－２（ｐｋｐ２）遺伝子治療
WO2026006785A2 (en) * 2024-06-28 2026-01-02 Adverum Biotechnologies, Inc. Melanopsin variants for vision restoration
WO2026044087A1 (en) 2024-08-21 2026-02-26 Shape Therapeutics Inc. Increased cellular stability for aav production
WO2026073032A1 (en) 2024-09-27 2026-04-02 Shape Therapeutics Inc. Constructs for improved aav production

Family Cites Families (14)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2187626C (en) 1994-04-13 2009-11-03 Michael G. Kaplitt Aav-mediated delivery of dna to cells of the nervous system
CA2406743A1 (en) 2000-04-28 2001-11-08 The Trustees Of The University Of Pennsylvania Recombinant aav vectors with aav5 capsids and aav5 vectors pseudotyped in heterologous capsids
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
US7122350B2 (en) * 2003-12-12 2006-10-17 Zymogenetics, Inc. Methods for enhancing expression of recombinant proteins
WO2009012176A2 (en) 2007-07-14 2009-01-22 The University Of Iowa Research Foundation Methods and compositions for treating brain diseases
JP2013523776A (ja) 2010-04-02 2013-06-17 セレジーン インコーポレイテッド パーキンソン病および脳のドーパミン作動性ニューロンのその他の障害を処置する方法
US9434928B2 (en) 2011-11-23 2016-09-06 Nationwide Children's Hospital, Inc. Recombinant adeno-associated virus delivery of alpha-sarcoglycan polynucleotides
US9585971B2 (en) 2013-09-13 2017-03-07 California Institute Of Technology Recombinant AAV capsid protein
IL248102B (en) 2014-05-02 2022-07-01 Genzyme Corp aav vectors for gene therapy of the central nervous system and retina
CA3019315A1 (en) * 2015-04-23 2016-10-27 University Of Massachusetts Modulation of aav vector transgene expression
AU2016324317A1 (en) * 2015-09-17 2018-03-08 Coda Biotherapeutics, Inc. Compositions and methods for treating neurological disorders
KR102423442B1 (ko) 2015-12-11 2022-07-20 캘리포니아 인스티튜트 오브 테크놀로지 아데노-관련 바이러스를 지시하기 위한 타겟팅 펩타이드
WO2020014523A1 (en) * 2018-07-12 2020-01-16 Rocket Pharmaceuticals, Ltd. Gene therapy vectors for treatment of danon disease
CN113227126A (zh) * 2018-11-26 2021-08-06 巴塞罗那自治大学 成纤维细胞生长因子21(fgf21)基因治疗

Also Published As

Publication number Publication date
WO2022017630A1 (en) 2022-01-27
WO2022018171A1 (en) 2022-01-27
AU2021312320A1 (en) 2023-03-16
IL299955A (en) 2023-03-01
CA3186700A1 (en) 2022-01-27
MX2023000995A (es) 2023-06-16
JP2023535576A (ja) 2023-08-18
EP4185332A1 (en) 2023-05-31
US20230330265A1 (en) 2023-10-19
KR20230039669A (ko) 2023-03-21

Similar Documents

Publication Publication Date Title
KR20230043869A (ko) Aav 벡터를 사용한 플라코필린-2(pkp2) 유전자 요법
CN116171325A (zh) 用于eEF1A2的基因疗法载体及其用途
CN107849547B (zh) 深内含子突变的基因编辑
CN112368390B (zh) Cns变性的基因疗法
JP7303816B2 (ja) Ａａｖベクター
CN107438671B (zh) 变体RNAi
CN116113700A (zh) 用于glut1表达的腺相关病毒载体及其用途
KR20230042468A (ko) Csrp3 (시스테인 및 글리신 풍부 단백질 3) 유전자 요법
KR20210132684A (ko) 비에띠 결정 이상증을 치료하기 위한 조성물 및 방법
CN115151648A (zh) 用于治疗cdkl5缺陷障碍的基因疗法
CN107466325A (zh) 多重载体系统及其应用
KR20210131370A (ko) Grn-연관 성인-발병 신경퇴화의 치료를 위한 재조합 아데노-연관 바이러스
KR20230038503A (ko) 샤르코-마리-투스 질환의 치료에 유용한 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
CN117545842A (zh) SMN1和miR-23a在治疗脊髓性肌萎缩中的协同效应
KR20230058102A (ko) Grn 관련 성인 발병 신경변성 치료를 위한 재조합 아데노-연관 바이러스
CN113755524B (zh) 用于治疗脊髓性肌萎缩的腺相关病毒载体及其用途
KR20230019402A (ko) 프로그래뉼린 연관 신경변성 질환 또는 장애의 치료를 위한 아데노-연관 바이러스 (aav) 시스템
US20240376493A1 (en) Optimized ap4m1 polyneucleotides and expression cassettes and their use
KR20220007601A (ko) 치료제 투여를 위한 조성물 및 방법
WO2020236352A1 (en) Optimized gene therapy targeting retinal cells
KR20210057720A (ko) Clrn1 관련된 청력 손실 및/또는 시력 손실의 치료 방법
RU2847339C1 (ru) ВЕКТОР ГЕННОЙ ТЕРАПИИ ДЛЯ eEF1A2 И ЕГО ПРИМЕНЕНИЕ
RU2855847C1 (ru) Кассета экспрессии, вектор генной терапии синдрома дефицита glut1, способ лечения синдрома дефицита glut1, способ экспрессии glut1, фармацевтическая композиция и набор для экспрессии glut1
RU2858237C2 (ru) Полинуклеотид и вектор генной терапии для экспрессии плакофилина-2 (pkp2) в клетке, способ, фармацевтическая композиция, применение вектора и набор для лечения или предупреждения связанного с ним заболевания

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