JP2024506860A - ニーマンピック病ａ型を治療するための組成物及び方法 - Google Patents

ニーマンピック病ａ型を治療するための組成物及び方法 Download PDF

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JP2024506860A
JP2024506860A JP2023546548A JP2023546548A JP2024506860A JP 2024506860 A JP2024506860 A JP 2024506860A JP 2023546548 A JP2023546548 A JP 2023546548A JP 2023546548 A JP2023546548 A JP 2023546548A JP 2024506860 A JP2024506860 A JP 2024506860A
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ウイルソン，ジェームス・エム
オルドー，ジュリエット
ユー，ティン
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ザ・トラステイーズ・オブ・ザ・ユニバーシテイ・オブ・ペンシルベニア
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    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • A61K9/00—Medicinal preparations characterised by special physical form
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    • A61K9/0085—Brain, e.g. brain implants; Spinal cord
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
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    • 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
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    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y301/00—Hydrolases acting on ester bonds (3.1)
    • C12Y301/04—Phosphoric diester hydrolases (3.1.4)
    • C12Y301/04012—Sphingomyelin phosphodiesterase (3.1.4.12)
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • C07K2319/01—Fusion polypeptide containing a localisation/targetting motif
    • C07K2319/02—Fusion polypeptide containing a localisation/targetting motif containing a signal sequence
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    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/20—Type of nucleic acid involving clustered regularly interspaced short palindromic repeats [CRISPR]
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    • 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
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    • 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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  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
JP2023546548A 2021-02-01 2022-02-01 ニーマンピック病ａ型を治療するための組成物及び方法 Pending JP2024506860A (ja)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US202163144103P 2021-02-01 2021-02-01
US63/144,103 2021-02-01
US202163286939P 2021-12-07 2021-12-07
US63/286,939 2021-12-07
PCT/US2022/014742 WO2022165421A1 (en) 2021-02-01 2022-02-01 Compositions and methods for treatment of niemann pick type a disease

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JP2024506860A true JP2024506860A (ja) 2024-02-15
JP2024506860A5 JP2024506860A5 (https=) 2025-02-07

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US (1) US20240115733A1 (https=)
EP (1) EP4284442A4 (https=)
JP (1) JP2024506860A (https=)
AU (1) AU2022214529A1 (https=)
CA (1) CA3205351A1 (https=)
MX (1) MX2023009030A (https=)
WO (1) WO2022165421A1 (https=)

Citations (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2006525363A (ja) * 2003-05-01 2006-11-09 ジェンザイム コーポレイション 神経代謝性疾患についての遺伝子治療
JP2007518396A (ja) * 2003-06-12 2007-07-12 ジェンザイム・コーポレーション 増加した活性を有する修飾されたヒト酸性スフィンゴミエリナーゼおよびその製造方法
JP2009525963A (ja) * 2006-01-20 2009-07-16 ジェンザイム・コーポレーション リソソーム蓄積症のための脳室内酵素の輸送
US20100173979A1 (en) * 2007-06-06 2010-07-08 Genzyme Corporation Gene therapy for lysosomal storage diseases
JP2013166777A (ja) * 2006-02-08 2013-08-29 Genzyme Corp ニーマンピック病ａ型に対する遺伝子治療
WO2019227029A1 (en) * 2018-05-25 2019-11-28 Genzyme Corporation Pharmaceutical compositions for treating acid sphingomyelinase deficiency
US20200276335A1 (en) * 2017-10-03 2020-09-03 Prevail Therapeutics, Inc. Gene therapies for lysosomal disorders

Family Cites Families (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5773278A (en) * 1991-05-03 1998-06-30 Mount Sinai Medical Center Acid sphingomyelinase gene
MX2018012537A (es) * 2016-04-15 2019-02-25 Univ Pennsylvania Terapia de genes para tratar hemofilia a.
WO2017191274A2 (en) * 2016-05-04 2017-11-09 Curevac Ag Rna encoding a therapeutic protein

Patent Citations (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2006525363A (ja) * 2003-05-01 2006-11-09 ジェンザイム コーポレイション 神経代謝性疾患についての遺伝子治療
JP2007518396A (ja) * 2003-06-12 2007-07-12 ジェンザイム・コーポレーション 増加した活性を有する修飾されたヒト酸性スフィンゴミエリナーゼおよびその製造方法
JP2009525963A (ja) * 2006-01-20 2009-07-16 ジェンザイム・コーポレーション リソソーム蓄積症のための脳室内酵素の輸送
JP2013166777A (ja) * 2006-02-08 2013-08-29 Genzyme Corp ニーマンピック病ａ型に対する遺伝子治療
US20100173979A1 (en) * 2007-06-06 2010-07-08 Genzyme Corporation Gene therapy for lysosomal storage diseases
US20200276335A1 (en) * 2017-10-03 2020-09-03 Prevail Therapeutics, Inc. Gene therapies for lysosomal disorders
WO2019227029A1 (en) * 2018-05-25 2019-11-28 Genzyme Corporation Pharmaceutical compositions for treating acid sphingomyelinase deficiency

Non-Patent Citations (3)

* Cited by examiner, † Cited by third party
Title
PASSINI, MA. ET AL.: "AAVvector-mediated correction of brain pathology in a mouse model of Niemann-PickA disease.", MOL THER., vol. Vol.11(5), JPN6025048364, May 2005 (2005-05-01), pages 754 - 762, ISSN: 0005739872 *
RHEIN C. ET AL.: "Secretionof acid Sphingomyelinase is affected by its polymorphic signal peptide.", CELLPHYSIOL BIOCHEM., vol. Vol.34(4), JPN6025048363, 2014, pages 1385 - 401, ISSN: 0005739873 *
SAMARANCH, L. ET AL.: "Adeno-associated viral vector serotype 9-based gene therapy for Niemann-Pickdisease type A", SCI TRANSL MED., vol. Vol.11(506), JPN6025048365, 21 August 2019 (2019-08-21), pages 1 - 32, ISSN: 0005739871 *

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WO2022165421A1 (en) 2022-08-04
CA3205351A1 (en) 2022-08-04
AU2022214529A1 (en) 2023-08-03
MX2023009030A (es) 2023-10-16
US20240115733A1 (en) 2024-04-11
EP4284442A1 (en) 2023-12-06
EP4284442A4 (en) 2025-04-23

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