JP2023535808A - 安定性の改善された変異型ベータ－グルコセレブロシダーゼ - Google Patents

安定性の改善された変異型ベータ－グルコセレブロシダーゼ Download PDF

Info

Publication number
JP2023535808A
JP2023535808A JP2023506111A JP2023506111A JP2023535808A JP 2023535808 A JP2023535808 A JP 2023535808A JP 2023506111 A JP2023506111 A JP 2023506111A JP 2023506111 A JP2023506111 A JP 2023506111A JP 2023535808 A JP2023535808 A JP 2023535808A
Authority
JP
Japan
Prior art keywords
gcase
polypeptide
seq
modified
mutation
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
JP2023506111A
Other languages
English (en)
Japanese (ja)
Other versions
JP2023535808A5 (https=
Inventor
カンパー、ファブリツィオ
ナスワニ、アミット
マッキントッシュ、ジェニー
コルバウ、ロムアルド
キア、アザデ
ミランダ、カルロス
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.)
SPUR THERAPEUTICS LIMITED
Original Assignee
SPUR THERAPEUTICS LIMITED
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
Priority claimed from GBGB2011813.9A external-priority patent/GB202011813D0/en
Priority claimed from GBGB2100648.1A external-priority patent/GB202100648D0/en
Priority claimed from GBGB2105924.1A external-priority patent/GB202105924D0/en
Application filed by SPUR THERAPEUTICS LIMITED filed Critical SPUR THERAPEUTICS LIMITED
Publication of JP2023535808A publication Critical patent/JP2023535808A/ja
Publication of JP2023535808A5 publication Critical patent/JP2023535808A5/ja
Pending legal-status Critical Current

Links

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
    • 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
    • A61P3/06—Antihyperlipidemics
    • 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)
    • C12N9/24—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)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal
    • 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)
    • C12Y302/01045—Glucosylceramidase (3.2.1.45), i.e. beta-glucocerebrosidase

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)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Medicinal Chemistry (AREA)
  • Biochemistry (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Plant Pathology (AREA)
  • Obesity (AREA)
  • Hematology (AREA)
  • Diabetes (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Neurology (AREA)
  • Neurosurgery (AREA)
  • Removal Of Specific Substances (AREA)
JP2023506111A 2020-07-29 2021-07-29 安定性の改善された変異型ベータ－グルコセレブロシダーゼ Pending JP2023535808A (ja)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
GBGB2011813.9A GB202011813D0 (en) 2020-07-29 2020-07-29 Polypeptide
GB2011813.9 2020-07-29
GBGB2100648.1A GB202100648D0 (en) 2021-01-18 2021-01-18 Polypeptide
GB2100648.1 2021-01-18
GB2105924.1 2021-04-26
GBGB2105924.1A GB202105924D0 (en) 2021-04-26 2021-04-26 Polypeptide
PCT/GB2021/051969 WO2022023761A2 (en) 2020-07-29 2021-07-29 Polypeptide

Publications (2)

Publication Number Publication Date
JP2023535808A true JP2023535808A (ja) 2023-08-21
JP2023535808A5 JP2023535808A5 (https=) 2024-08-07

Family

ID=77265101

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2023506111A Pending JP2023535808A (ja) 2020-07-29 2021-07-29 安定性の改善された変異型ベータ－グルコセレブロシダーゼ

Country Status (16)

Country Link
US (1) US20240261433A1 (https=)
EP (2) EP4118200B1 (https=)
JP (1) JP2023535808A (https=)
KR (1) KR20230042513A (https=)
CN (1) CN116322744A (https=)
AU (1) AU2021316875B2 (https=)
BR (1) BR112023001583A2 (https=)
CA (1) CA3189801A1 (https=)
DK (1) DK4118200T3 (https=)
ES (1) ES3057448T3 (https=)
FI (1) FI4118200T3 (https=)
HR (1) HRP20251591T1 (https=)
IL (1) IL299811A (https=)
MX (1) MX2023001137A (https=)
PT (1) PT4118200T (https=)
WO (1) WO2022023761A2 (https=)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TW202532096A (zh) 2023-12-08 2025-08-16 美商戴納立製藥公司 經修飾之葡萄糖腦苷脂酶多肽及其使用方法
WO2025166045A1 (en) 2024-01-31 2025-08-07 Alector Llc β-GLUCOCEREBROSIDASE ENZYMES, FUSION PROTEINS AND COMPLEXES COMPRISING THE SAME, AND METHODS OF USE THEREOF
CN118086341B (zh) * 2024-04-25 2024-08-02 上海凌医生物科技有限公司 在肝脏中高表达人源葡萄糖脑苷脂酶基因的表达框
WO2026006173A1 (en) 2024-06-24 2026-01-02 Denali Therapeutics Inc. Fusion proteins comprising modified glucocerebrosidase polypeptides and methods thereof

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001049830A2 (en) * 1999-12-30 2001-07-12 Maxygen Aps Improved lysosomal enzymes and lysosomal enzyme activators
WO2012064709A2 (en) * 2010-11-08 2012-05-18 Callidus Biopharma, Inc. Variant, recombinant beta-glucocerebrosidase proteins with increased stability and increased retained catalytic activity

Family Cites Families (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6582692B1 (en) * 1999-11-17 2003-06-24 Avigen, Inc. Recombinant adeno-associated virus virions for the treatment of lysosomal disorders
EP2154969B1 (en) 2007-05-16 2015-11-18 The Brigham and Women's Hospital, Inc. Treatment of synucleinopathies
WO2011122950A1 (en) 2010-04-01 2011-10-06 Amsterdam Molecular Therapeutics (Amt) Ip B.V. Monomeric duplex aav vectors
WO2013151665A2 (en) * 2012-04-02 2013-10-10 modeRNA Therapeutics Modified polynucleotides for the production of proteins associated with human disease
US9574184B2 (en) * 2013-09-25 2017-02-21 Children's Hospital Medical Center Lysosomal protein targeting sequence and therapeutic applications of same
MX2018012537A (es) * 2016-04-15 2019-02-25 Univ Pennsylvania Terapia de genes para tratar hemofilia a.
AU2018346104B2 (en) 2017-10-03 2023-07-27 Prevail Therapeutics, Inc. Gene therapies for lysosomal disorders
BR112020006661A2 (pt) 2017-10-03 2020-10-13 Prevail Therapeutics, Inc. terapias de genes para distúrbios lipossomais
WO2020012149A1 (en) 2018-07-13 2020-01-16 Ucl Business Ltd Glucocerebrosidase gene therapy
US20220125892A1 (en) * 2019-02-01 2022-04-28 OXYRANE UK Ltd. Glucocerebrosidase polypeptides

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2001049830A2 (en) * 1999-12-30 2001-07-12 Maxygen Aps Improved lysosomal enzymes and lysosomal enzyme activators
WO2012064709A2 (en) * 2010-11-08 2012-05-18 Callidus Biopharma, Inc. Variant, recombinant beta-glucocerebrosidase proteins with increased stability and increased retained catalytic activity

Also Published As

Publication number Publication date
US20240261433A1 (en) 2024-08-08
EP4643868A3 (en) 2026-04-08
EP4643868A2 (en) 2025-11-05
ES3057448T3 (en) 2026-03-02
KR20230042513A (ko) 2023-03-28
MX2023001137A (es) 2023-02-22
HRP20251591T1 (hr) 2026-01-30
PT4118200T (pt) 2026-01-08
EP4118200B1 (en) 2025-10-08
WO2022023761A2 (en) 2022-02-03
BR112023001583A2 (pt) 2023-02-14
IL299811A (en) 2023-03-01
CA3189801A1 (en) 2022-02-03
FI4118200T3 (fi) 2025-12-12
EP4118200A2 (en) 2023-01-18
AU2021316875A1 (en) 2023-02-23
DK4118200T3 (da) 2025-12-08
WO2022023761A3 (en) 2022-03-10
CN116322744A (zh) 2023-06-23
AU2021316875B2 (en) 2026-04-02

Similar Documents

Publication Publication Date Title
El Andari et al. Production, processing, and characterization of synthetic AAV gene therapy vectors
JP2023535808A (ja) 安定性の改善された変異型ベータ－グルコセレブロシダーゼ
JP7532360B2 (ja) ウィルソン病を処置するための組成物および方法
JP7328760B2 (ja) 家族性高コレステロール血症を処置するための遺伝子治療
EP3850089B1 (en) Polynucleotides
US20230295657A1 (en) Gene therapy using nucleic acid constructs comprising methyl cpg binding protein 2 (mecp2) promoter sequences
JP2023071829A (ja) 家族性高コレステロール血症を処置するための遺伝子治療
Drouyer et al. Development of CNS tropic AAV1-like variants with reduced liver-targeting following systemic administration in mice
TW202325720A (zh) 經修飾aav蛋白殼及載體
US11401527B2 (en) Compositions and methods useful for prophylaxis of organophosphates
HK40126748A (en) Mutated beta-glucocerebrosidase with improved stability
HK40086339A (en) Mutated beta-glucocerebrosidase with improved stability
HK40086339B (en) Mutated beta-glucocerebrosidase with improved stability
US20260125663A1 (en) Polynucleotides
WO2026074284A1 (en) Methods of transducing podocytes
HK40101373A (en) Compositions and methods for treating wilson's disease
HK40056357A (en) Polynucleotides
HK40056357B (en) Polynucleotides

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A821

Effective date: 20230328

RD01 Notification of change of attorney

Free format text: JAPANESE INTERMEDIATE CODE: A7426

Effective date: 20230328

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20240726

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20240726

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20250708

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20250925

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20260108

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20260224