CA3048044A1 - Gene therapy for treating wilson's disease - Google Patents

Gene therapy for treating wilson's disease Download PDF

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Publication number
CA3048044A1
CA3048044A1 CA3048044A CA3048044A CA3048044A1 CA 3048044 A1 CA3048044 A1 CA 3048044A1 CA 3048044 A CA3048044 A CA 3048044A CA 3048044 A CA3048044 A CA 3048044A CA 3048044 A1 CA3048044 A1 CA 3048044A1
Authority
CA
Canada
Prior art keywords
atp7b
copper
mice
raav
aav8
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
CA3048044A
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English (en)
French (fr)
Inventor
James M. Wilson
Jenny Agnes Sidrane
Lakshmanan Govindasamy
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 Pennsylvania
Original Assignee
University of Pennsylvania
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
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Application filed by University of Pennsylvania filed Critical University of Pennsylvania
Publication of CA3048044A1 publication Critical patent/CA3048044A1/en
Pending legal-status Critical Current

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    • 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
    • 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
    • A61K48/0075—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 delivery route, e.g. oral, subcutaneous
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P1/00—Drugs for disorders of the alimentary tract or the digestive system
    • A61P1/16—Drugs for disorders of the alimentary tract or the digestive system for liver or gallbladder disorders, e.g. hepatoprotective agents, cholagogues, litholytics
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • 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
    • C07K14/745—Blood coagulation or fibrinolysis factors
    • C07K14/755—Factors VIII, e.g. factor VIII C (AHF), factor VIII Ag (VWF)
    • 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
    • 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
    • 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
    • A01K2267/0306—Animal model for genetic 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
    • C12N2830/48—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

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  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medicinal Chemistry (AREA)
  • Biotechnology (AREA)
  • Zoology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Plant Pathology (AREA)
  • Hematology (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Diabetes (AREA)
  • Obesity (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Toxicology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Environmental Sciences (AREA)
CA3048044A 2016-12-30 2017-12-29 Gene therapy for treating wilson's disease Pending CA3048044A1 (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201662440659P 2016-12-30 2016-12-30
US62/440,659 2016-12-30
US201762473656P 2017-03-20 2017-03-20
US62/473,656 2017-03-20
PCT/US2017/068919 WO2018126116A1 (en) 2016-12-30 2017-12-29 Gene therapy for treating wilson's disease

Publications (1)

Publication Number Publication Date
CA3048044A1 true CA3048044A1 (en) 2018-07-05

Family

ID=62710046

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3048044A Pending CA3048044A1 (en) 2016-12-30 2017-12-29 Gene therapy for treating wilson's disease

Country Status (11)

Country Link
US (3) US11473106B2 (enExample)
EP (2) EP4361277A3 (enExample)
JP (1) JP7128190B2 (enExample)
KR (2) KR102863181B1 (enExample)
CN (1) CN110290814A (enExample)
BR (1) BR112019013245A2 (enExample)
CA (1) CA3048044A1 (enExample)
DK (1) DK3562514T3 (enExample)
ES (1) ES3072955T3 (enExample)
MX (1) MX2019007873A (enExample)
WO (1) WO2018126116A1 (enExample)

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CN117821509A (zh) 2017-04-03 2024-04-05 编码治疗公司 组织选择性转基因表达
CN118345115A (zh) 2017-12-01 2024-07-16 编码治疗公司 工程化的dna结合蛋白
AU2019215152A1 (en) 2018-02-01 2020-08-20 Homology Medicines, Inc. Adeno-associated virus compositions for restoring PAH gene function and methods of use thereof
WO2019152841A1 (en) 2018-02-01 2019-08-08 Homology Medicines, Inc. Adeno-associated virus compositions for pah gene transfer and methods of use thereof
US11306329B2 (en) 2018-02-19 2022-04-19 City Of Hope Adeno-associated virus compositions for restoring F8 gene function and methods of use thereof
AU2019354296A1 (en) * 2018-10-01 2021-04-29 Ultragenyx Pharmaceutical Inc. Gene therapy for treating propionic acidemia
CA3118936A1 (en) * 2018-11-16 2020-05-22 Encoded Therapeutics, Inc. Compositions and methods for treating wilson's disease
KR20210112339A (ko) * 2019-01-04 2021-09-14 울트라제닉스 파마수티컬 인코포레이티드 윌슨병을 치료하기 위한 유전자 요법 구축물
SG11202113048SA (en) 2019-05-29 2021-12-30 Encoded Therapeutics Inc Compositions and methods for selective gene regulation
CN111088285B (zh) * 2019-08-15 2021-12-28 北京锦篮基因科技有限公司 携带atp7b基因表达框及变异体的aav载体及应用
KR102490457B1 (ko) * 2019-11-26 2023-01-19 한국생명공학연구원 단백질 발현용 mRNA 구조체 및 이의 용도
TW202140791A (zh) 2020-01-13 2021-11-01 美商霍蒙拉奇醫藥公司 治療苯酮尿症之方法
US12686874B2 (en) 2020-03-31 2026-07-21 Ultragenyx Pharmaceutical Inc. Gene therapy for treating propionic acidemia
TW202208632A (zh) 2020-05-27 2022-03-01 美商同源醫藥公司 用於恢復ｐａｈ基因功能的腺相關病毒組成物及其使用方法
MX2023008826A (es) 2021-02-01 2023-09-15 Regenxbio Inc Terapia génica para lipofuscinosis neuronal ceroidea.
WO2022208342A1 (en) * 2021-04-01 2022-10-06 Pfizer Inc. Pharmaceutical compositions containing adeno-associated viral vector
CN115216481A (zh) * 2021-04-21 2022-10-21 四川至善唯新生物科技有限公司 一种表达量提高的截短型atp7b基因及其应用
TW202323528A (zh) * 2021-10-18 2023-06-16 美商邏輯生物療法公司 用於治療威爾森氏病之基因療法
WO2023230466A1 (en) * 2022-05-23 2023-11-30 Lutsenka Svetlana Compositions and methods for treating wilson's disease
CN115216533A (zh) * 2022-06-30 2022-10-21 湖南家辉生物技术有限公司 一种用于诊断威尔逊病的生物标志物、扩增引物组、检测试剂及应用
EP4677077A4 (en) * 2023-03-06 2026-07-29 Lingyi Biotech Co Ltd TRUNCATED ATP7B GENE AND ITS USAGE
JP2026508707A (ja) * 2023-03-22 2026-03-11 スカイライン、セラピューティクス、リミテッド ウィルソン病の遺伝子療法のための組換えａａｖ
US20240360431A1 (en) * 2023-04-30 2024-10-31 Sichuan Real&Best Biotech Co., Ltd. Engineered alpha-galactosidase a (a-gal a) peptides and functional variants thereof and associated methods of treating fabry disease
CN120882865A (zh) * 2023-07-28 2025-10-31 凌意(杭州)生物科技有限公司 用于治疗威尔逊病的多核苷酸
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CN117947035A (zh) * 2024-03-25 2024-04-30 上海凌医生物科技有限公司 一种增强基因表达的启动子

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KR20210112339A (ko) 2019-01-04 2021-09-14 울트라제닉스 파마수티컬 인코포레이티드 윌슨병을 치료하기 위한 유전자 요법 구축물

Also Published As

Publication number Publication date
WO2018126116A1 (en) 2018-07-05
JP2020514286A (ja) 2020-05-21
US12460228B2 (en) 2025-11-04
EP3562514B1 (en) 2026-04-29
DK3562514T3 (da) 2026-06-29
EP4361277A3 (en) 2024-07-31
CN110290814A (zh) 2019-09-27
MX2019007873A (es) 2019-11-18
US11473106B2 (en) 2022-10-18
EP3562514A4 (en) 2020-08-05
BR112019013245A2 (pt) 2020-02-11
US20220389455A1 (en) 2022-12-08
JP7128190B2 (ja) 2022-08-30
KR102604096B1 (ko) 2023-11-23
KR102863181B1 (ko) 2025-09-23
US20190338310A1 (en) 2019-11-07
EP3562514A1 (en) 2019-11-06
EP4361277A2 (en) 2024-05-01
ES3072955T3 (en) 2026-07-07
KR20230160411A (ko) 2023-11-23
KR20190101410A (ko) 2019-08-30
US20260152761A1 (en) 2026-06-04

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