AU2020208997B2 - AAV gene therapy for treating nephrotic syndrome - Google Patents

AAV gene therapy for treating nephrotic syndrome

Info

Publication number
AU2020208997B2
AU2020208997B2 AU2020208997A AU2020208997A AU2020208997B2 AU 2020208997 B2 AU2020208997 B2 AU 2020208997B2 AU 2020208997 A AU2020208997 A AU 2020208997A AU 2020208997 A AU2020208997 A AU 2020208997A AU 2020208997 B2 AU2020208997 B2 AU 2020208997B2
Authority
AU
Australia
Prior art keywords
aav
gfp
mpod
hnphs1
vector
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
AU2020208997A
Other languages
English (en)
Other versions
AU2020208997A1 (en
Inventor
Moin Ahson SALEEM-UDDIN
Gavin Iain Welsh
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.)
University of Bristol
Original Assignee
University of Bristol
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 University of Bristol filed Critical University of Bristol
Publication of AU2020208997A1 publication Critical patent/AU2020208997A1/en
Application granted granted Critical
Publication of AU2020208997B2 publication Critical patent/AU2020208997B2/en
Priority to AU2026201536A priority Critical patent/AU2026201536A1/en
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

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
    • A61K38/00—Medicinal preparations containing peptides
    • A61K38/16—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • A61K38/1703—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • A61K38/1709—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • 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
    • 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
    • A61P13/00—Drugs for disorders of the urinary system
    • A61P13/12—Drugs for disorders of the urinary system of the kidneys
    • 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
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/07—Animals genetically altered by homologous recombination
    • A01K2217/075—Animals genetically altered by homologous recombination inducing loss of function, i.e. knock out
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/20—Animal model comprising regulated expression system
    • A01K2217/206—Animal model comprising tissue-specific expression system, e.g. tissue specific expression of transgene, of Cre recombinase
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00—Animals characterised by species
    • A01K2227/10—Mammal
    • A01K2227/105—Murine
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/035—Animal model for multifactorial diseases
    • 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
    • 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)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Chemical & Material Sciences (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Wood Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Animal Behavior & Ethology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Biophysics (AREA)
  • Epidemiology (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Toxicology (AREA)
  • Immunology (AREA)
  • Marine Sciences & Fisheries (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Urology & Nephrology (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
AU2020208997A 2019-01-18 2020-01-17 AAV gene therapy for treating nephrotic syndrome Active AU2020208997B2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2026201536A AU2026201536A1 (en) 2019-01-18 2026-02-27 AAV gene therapy for treating nephrotic syndrome

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
GBGB1900702.0A GB201900702D0 (en) 2019-01-18 2019-01-18 Therapy
GB1900702.0 2019-01-18
PCT/GB2020/050097 WO2020148548A1 (en) 2019-01-18 2020-01-17 Aav gene therapy for treating nephrotic syndrome

Related Child Applications (1)

Application Number Title Priority Date Filing Date
AU2026201536A Division AU2026201536A1 (en) 2019-01-18 2026-02-27 AAV gene therapy for treating nephrotic syndrome

Publications (2)

Publication Number Publication Date
AU2020208997A1 AU2020208997A1 (en) 2021-08-05
AU2020208997B2 true AU2020208997B2 (en) 2025-12-11

Family

ID=65528327

Family Applications (2)

Application Number Title Priority Date Filing Date
AU2020208997A Active AU2020208997B2 (en) 2019-01-18 2020-01-17 AAV gene therapy for treating nephrotic syndrome
AU2026201536A Pending AU2026201536A1 (en) 2019-01-18 2026-02-27 AAV gene therapy for treating nephrotic syndrome

Family Applications After (1)

Application Number Title Priority Date Filing Date
AU2026201536A Pending AU2026201536A1 (en) 2019-01-18 2026-02-27 AAV gene therapy for treating nephrotic syndrome

Country Status (8)

Country Link
US (2) US12544460B2 (https=)
EP (2) EP4516915A3 (https=)
JP (2) JP7587506B2 (https=)
CN (2) CN113543814B (https=)
AU (2) AU2020208997B2 (https=)
CA (1) CA3126429A1 (https=)
GB (1) GB201900702D0 (https=)
WO (1) WO2020148548A1 (https=)

Families Citing this family (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB201900702D0 (en) 2019-01-18 2019-03-06 Univ Bristol Therapy
GB202003109D0 (en) 2020-03-04 2020-04-15 Univ Bristol Gene therapy
GB202003618D0 (en) 2020-03-12 2020-04-29 Univ Bristol Gene Therapy
GB202009039D0 (en) 2020-06-15 2020-07-29 Univ Bristol Therapy
GB202103470D0 (en) * 2021-03-12 2021-04-28 Univ Bristol Promoter
CN114592052A (zh) * 2022-04-01 2022-06-07 中国人民解放军陆军军医大学第二附属医院 一种肾病综合征患者pdss2致病突变基因及其检测试剂
EP4273243A1 (en) 2022-05-02 2023-11-08 Fundació Hospital Universitari Vall d'Hebron - Institut de Recerca Nucleic acid constructs and vectors for podocyte specific expression
WO2025072667A2 (en) * 2023-09-29 2025-04-03 University Of Utah Research Foundation Compositions and methods for treating phosphomannomutase 2 (pmm2) deficiency
CN117871216B (zh) * 2024-03-12 2024-06-04 中日友好医院(中日友好临床医学研究所) 一种石蜡标本中肾小球裂隙膜的三维可视化方法
GB202414499D0 (en) * 2024-10-02 2024-11-13 Purespring Therapeutics Ltd Methods

Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030152954A1 (en) * 2000-01-20 2003-08-14 Institut National De La Sante Et De La Recherche Medicale (Inserm) NPHS2 gene involved in the steroid-resistant nephrotic syndrome, protein encoded by said gene and diagnostic and therapeutic uses

Family Cites Families (14)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0173552B1 (en) 1984-08-24 1991-10-09 The Upjohn Company Recombinant dna compounds and the expression of polypeptides such as tpa
WO2003082305A1 (en) 2002-04-03 2003-10-09 Naohide Yamashita Drug containing human placenta-origin mesenchymal cells and process for producing vegf using the cells
IL158868A0 (en) 2003-11-13 2004-05-12 Yeda Res & Dev Methods of generating and using stem cells enriched with immature primitive progenitor
WO2007125723A1 (ja) 2006-04-28 2007-11-08 Osaka University 糸球体スリット蛋白誘導剤
CN120174012A (zh) 2013-10-24 2025-06-20 优尼科Ip有限公司 用于基因治疗神经疾病的aav-5假型载体
GB201403684D0 (en) 2014-03-03 2014-04-16 King S College London Vector
HK1249534A1 (zh) 2015-04-06 2018-11-02 哈佛大学校长及研究员协会 用於非清髓性预处理的组合物和方法
PE20231949A1 (es) 2015-10-30 2023-12-05 Spark Therapeutics Inc VARIANTES DEL FACTOR VIII REDUCIDO CON CpG, COMPOSICIONES Y METODOS Y USOS PARA EL TRATAMIENTO DE TRASTORNOS DE LA HEMOSTASIA
US20190022250A1 (en) 2015-11-06 2019-01-24 National University Corporation Kumamoto University Pharmaceutical composition for preventing or treating heart failure
WO2017144080A1 (en) * 2016-02-23 2017-08-31 Eyeserv Gmbh Gene therapy for the treatment of a disease of retinal cone cells
MX2019001920A (es) 2016-08-19 2019-07-01 Curevac Ag Arn la terapia contra el cancer.
WO2018144709A2 (en) 2017-02-01 2018-08-09 The Trustees Of The University Of Pennsylvania Gene therapy for treating citrullenemia
GB201900702D0 (en) 2019-01-18 2019-03-06 Univ Bristol Therapy
EP4273243A1 (en) 2022-05-02 2023-11-08 Fundació Hospital Universitari Vall d'Hebron - Institut de Recerca Nucleic acid constructs and vectors for podocyte specific expression

Patent Citations (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030152954A1 (en) * 2000-01-20 2003-08-14 Institut National De La Sante Et De La Recherche Medicale (Inserm) NPHS2 gene involved in the steroid-resistant nephrotic syndrome, protein encoded by said gene and diagnostic and therapeutic uses

Also Published As

Publication number Publication date
JP2022517407A (ja) 2022-03-08
EP4516915A2 (en) 2025-03-05
CN113543814B (zh) 2025-06-17
JP7835461B2 (ja) 2026-03-25
EP4516915A3 (en) 2025-07-09
US20220125950A1 (en) 2022-04-28
US12544460B2 (en) 2026-02-10
CA3126429A1 (en) 2020-07-23
WO2020148548A1 (en) 2020-07-23
AU2026201536A1 (en) 2026-03-19
JP7587506B2 (ja) 2024-11-20
AU2020208997A1 (en) 2021-08-05
JP2025011130A (ja) 2025-01-23
US20250064984A1 (en) 2025-02-27
GB201900702D0 (en) 2019-03-06
CN120683181A (zh) 2025-09-23
EP3911368A1 (en) 2021-11-24
CN113543814A (zh) 2021-10-22

Similar Documents

Publication Publication Date Title
AU2020208997B2 (en) AAV gene therapy for treating nephrotic syndrome
US20230175016A1 (en) Vector
EP3292138A1 (en) Production of large-sized microdystrophins in an aav-based vector configuration
US20260109998A1 (en) Compositions and methods for treating duchenne muscular dystrophy
HK40122408A (en) Aav gene therapy for treating nephrotic syndrome
EP4410988A1 (en) An aav2-vector variant for targeted transfer of genes
KR20260003703A (ko) 보체 장애의 치료를 위한 aav 변이체
US20240115736A1 (en) Methods and materials for treating tdp-43 proteinopathies
US20250064975A1 (en) Therapy
RU2854890C1 (ru) Вектор
Ding Investigating Adeno-Associated Virus as a Vector for Gene Therapy for Steroid-Resistant Nephrotic Syndrome
CN118591396A (zh) 治疗剂的逆行冠状静脉或冠状窦施用
HK40049102B (zh) 用於治疗杜兴肌营养不良的组合物和方法
Burns Development of a Protein-Based Therapy for the Treatment of Spinal Muscular Atrophy
Al-Rafiah PLASTIN3 AS A THERAPEUTIC TARGET IN SPINAL MUSCULAR ATROPHY
BR122024005873A2 (pt) Proteína mutante recombinante da superfamília da distrofina, vírus adeno-associado recombinante, sequência de ácido nucleico recombinante, plasmídeo, composição farmacêutica e seus usos
BR112020021179B1 (pt) Proteína mutante recombinante da superfamília da distrofina, vírus adeno-associado recombinante e seus usos

Legal Events

Date Code Title Description
FGA Letters patent sealed or granted (standard patent)