JP2025508841A - Ｇａａ酵素補充療法の長期休止を伴うポンペ病を処置するための治療用アデノ随伴ウイルス - Google Patents

Ｇａａ酵素補充療法の長期休止を伴うポンペ病を処置するための治療用アデノ随伴ウイルス Download PDF

Info

Publication number
JP2025508841A
JP2025508841A JP2024550218A JP2024550218A JP2025508841A JP 2025508841 A JP2025508841 A JP 2025508841A JP 2024550218 A JP2024550218 A JP 2024550218A JP 2024550218 A JP2024550218 A JP 2024550218A JP 2025508841 A JP2025508841 A JP 2025508841A
Authority
JP
Japan
Prior art keywords
gaa
administration
ert
aav
disclosed
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
JP2024550218A
Other languages
English (en)
Japanese (ja)
Other versions
JP2025508841A5 (https=
Inventor
サム ホプキンス，
エドワード クリントン スミス，
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.)
Duke University
Original Assignee
Duke University
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 Duke University filed Critical Duke University
Publication of JP2025508841A publication Critical patent/JP2025508841A/ja
Publication of JP2025508841A5 publication Critical patent/JP2025508841A5/ja
Pending legal-status Critical Current

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
    • A61K38/43—Enzymes; Proenzymes; Derivatives thereof
    • A61K38/46—Hydrolases (3)
    • A61K38/47—Hydrolases (3) acting on glycosyl compounds (3.2), e.g. cellulases, lactases
    • 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
    • A61P3/00—Drugs for disorders of the metabolism
    • 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)
    • C12N9/24—Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • C12N9/2405—Glucanases
    • C12N9/2408—Glucanases acting on alpha -1,4-glucosidic bonds
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y302/00—Hydrolases acting on glycosyl compounds, i.e. glycosylases (3.2)
    • C12Y302/01—Glycosidases, i.e. enzymes hydrolysing O- and S-glycosyl compounds (3.2.1)
    • C12Y302/0102—Alpha-glucosidase (3.2.1.20)
    • 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
    • A61K48/0083—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 administration regime
    • 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)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Biomedical Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Molecular Biology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Epidemiology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Plant Pathology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Diabetes (AREA)
  • Hematology (AREA)
  • Obesity (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
JP2024550218A 2022-02-25 2023-02-23 Ｇａａ酵素補充療法の長期休止を伴うポンペ病を処置するための治療用アデノ随伴ウイルス Pending JP2025508841A (ja)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US202263314093P 2022-02-25 2022-02-25
US63/314,093 2022-02-25
US202263319034P 2022-03-11 2022-03-11
US63/319,034 2022-03-11
US202263340972P 2022-05-12 2022-05-12
US63/340,972 2022-05-12
PCT/US2023/013713 WO2023164060A2 (en) 2022-02-25 2023-02-23 Therapeutic adeno-associated virus for treating pompe disease with long term cessation of gaa enzyme replacement therapy

Publications (2)

Publication Number Publication Date
JP2025508841A true JP2025508841A (ja) 2025-04-10
JP2025508841A5 JP2025508841A5 (https=) 2026-03-03

Family

ID=87766839

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2024550218A Pending JP2025508841A (ja) 2022-02-25 2023-02-23 Ｇａａ酵素補充療法の長期休止を伴うポンペ病を処置するための治療用アデノ随伴ウイルス

Country Status (8)

Country Link
US (1) US20250163457A1 (https=)
EP (1) EP4482516A4 (https=)
JP (1) JP2025508841A (https=)
CN (1) CN119095612A (https=)
AU (1) AU2023224856A1 (https=)
CA (1) CA3252501A1 (https=)
TW (1) TW202342109A (https=)
WO (1) WO2023164060A2 (https=)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2025053118A1 (ja) * 2023-09-04 2025-03-13 アステラス製薬株式会社 短縮型ｃｍｖプロモーター配列、及び／又は短縮型ポリアデニル化配列を含む組換えアデノ随伴ウイルス
WO2025235807A1 (en) * 2024-05-10 2025-11-13 Solid Biosciences, Inc. Compositions and methods to improve graft survival

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2001269923A1 (en) * 2000-06-19 2002-01-02 Genzyme Corporation Combination enzyme replacement, gene therapy and small molecule therapy for lysosomal storage diseases
US8679478B2 (en) * 2010-10-04 2014-03-25 Duke University Methods of lysosomal storage disease therapy
EP3293259A1 (en) * 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
US20200063160A1 (en) * 2018-08-07 2020-02-27 Sangamo Therapeutics, Inc. Method for the treatment of mucopolysaccharidosis type ii
CN113423419A (zh) * 2019-01-04 2021-09-21 桑格摩生物治疗股份有限公司 用于治疗法布里病的方法和组合物
KR20220098384A (ko) * 2019-11-19 2022-07-12 아스클레피오스 바이오파마슈티컬, 인크. 폼페병 및 리소좀 장애를 치료하기 위한 간-특이적 프로모터를 포함하는 치료적 아데노-관련 바이러스
US20250213726A1 (en) * 2022-03-18 2025-07-03 Asklepios Biopharmaceutical, Inc. Therapeutic adeno-associated virus using codon optimized nucleic acid encoding alpha-glucosidase (gaa) for treating pompe disease, with signal peptide modifications

Also Published As

Publication number Publication date
US20250163457A1 (en) 2025-05-22
AU2023224856A1 (en) 2024-08-15
CA3252501A1 (en) 2023-08-31
EP4482516A4 (en) 2026-03-25
CN119095612A (zh) 2024-12-06
TW202342109A (zh) 2023-11-01
WO2023164060A3 (en) 2023-10-19
EP4482516A2 (en) 2025-01-01
WO2023164060A2 (en) 2023-08-31

Similar Documents

Publication Publication Date Title
JP2023503046A (ja) ポンペ病およびリソソーム障害を処置するための肝臓特異的プロモーターを含む治療用アデノ随伴ウイルス
US20200390888A1 (en) Novel aav mediated influenza vaccines
US12023386B2 (en) Composition for treatment of Crigler-Najjar syndrome
US20180363000A1 (en) Aav-anti pcsk9 antibody constructs and uses thereof
US20250163457A1 (en) Therapeutic adeno-associated virus for treating pompe disease with long term cessation of gaa enzyme replacement therapy
US20250276093A1 (en) Therapeutic adeno-associated virus using codon optimized nucleic acid encoding factor viii
US12247213B2 (en) Treatment of mucopolysaccharidosis IVA
Leon-Astudillo et al. Current avenues of gene therapy in Pompe disease
TW202045728A (zh) 用於治療克拉培氏病之組成物
KR20250005569A (ko) 신호 펩타이드 변형을 갖는, 폼페병을 치료하기 위한 코돈 최적화된 알파-글루코시다제(gaa) 암호화 핵산을 사용하는 치료적 아데노-연관 바이러스
HK40121378A (zh) 用於在长期停止gaa酶替代疗法的情况下治疗庞贝病的治疗性腺相关病毒
EP4466367A1 (en) Methods for treatment of ornithine transcarbamylase (otc) deficiency
KR20240099332A (ko) 파브리병의 치료를 위한 바이러스 벡터 작제물의 사용 방법
TW202526024A (zh) 用於治療龐貝症之具有異源訊號肽之利用編碼α－葡萄糖苷酶（ＧＡＡ）之核酸之治療性腺相關病毒
JP2023512043A (ja) ムコ多糖症ｉｖａの治療
HK40120720A (zh) 具有信号肽修饰的、使用编码α-葡萄糖苷酶(GAA)的经密码子优化的核酸治疗庞贝氏病的治疗性腺相关病毒
TWI920044B (zh) 用於治療龐貝症及溶酶體病症之包含肝特異性啟動子之治療性腺相關病毒
CA3048038C (en) Gene therapy for treating phenylketonuria
HK40087843A (zh) 用於治疗庞贝氏病和溶酶体紊乱的包含肝特异性启动子的治疗性腺相关病毒
CN118202061A (zh) 使用病毒载体构建体治疗法布里病的方法
WO2025259575A9 (en) Methods and compositions for treatment of duchenne muscular dystrophy

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20260220

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20260220