CA2930872C - Adeno-associated virus vectors for treatment of glycogen storage disease - Google Patents

Adeno-associated virus vectors for treatment of glycogen storage disease Download PDF

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Publication number
CA2930872C
CA2930872C CA2930872A CA2930872A CA2930872C CA 2930872 C CA2930872 C CA 2930872C CA 2930872 A CA2930872 A CA 2930872A CA 2930872 A CA2930872 A CA 2930872A CA 2930872 C CA2930872 C CA 2930872C
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g6pc
aav
mice
gpe
raav
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French (fr)
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CA2930872A1 (en
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Janice J. Chou
Barry J. Byrne
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University of Florida Research Foundation Inc
US Department of Health and Human Services
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University of Florida Research Foundation Inc
US Department of Health and Human Services
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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
    • A61K48/0008—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 'non-active' part of the composition delivered, e.g. wherein such 'non-active' part is not delivered simultaneously with the 'active' part of the composition
    • 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
    • A61K48/0066—Manipulation of the nucleic acid to modify its expression pattern, e.g. enhance its duration of expression, achieved by the presence of particular introns in the delivered nucleic acid
    • 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
    • A61P13/00—Drugs for disorders of the urinary system
    • A61P13/12—Drugs for disorders of the urinary system of the kidneys
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P19/00—Drugs for skeletal disorders
    • A61P19/06—Antigout agents, e.g. antihyperuricemic or uricosuric agents
    • 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
    • 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
    • A61P3/08—Drugs for disorders of the metabolism for glucose homeostasis
    • 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
    • A61P3/08—Drugs for disorders of the metabolism for glucose homeostasis
    • A61P3/10—Drugs for disorders of the metabolism for glucose homeostasis for hyperglycaemia, e.g. antidiabetics
    • 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
    • C12N7/00—Viruses; Bacteriophages; Compositions thereof; Preparation or purification thereof
    • 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)
    • C12N9/16—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)
    • C12Y301/03—Phosphoric monoester hydrolases (3.1.3)
    • C12Y301/03009—Glucose-6-phosphatase (3.1.3.9)
    • 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
    • C12N2830/42—Vector systems having a special element relevant for transcription being an intron or intervening sequence for splicing and/or stability of RNA

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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)
  • Animal Behavior & Ethology (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Biomedical Technology (AREA)
  • Epidemiology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Diabetes (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Microbiology (AREA)
  • Virology (AREA)
  • Obesity (AREA)
  • Hematology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Endocrinology (AREA)
  • Emergency Medicine (AREA)
  • Immunology (AREA)
  • Urology & Nephrology (AREA)
  • Pain & Pain Management (AREA)
  • Rheumatology (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Gastroenterology & Hepatology (AREA)
CA2930872A 2013-11-26 2014-11-25 Adeno-associated virus vectors for treatment of glycogen storage disease Active CA2930872C (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201361908861P 2013-11-26 2013-11-26
US61/908,861 2013-11-26
PCT/US2014/067415 WO2015081101A1 (en) 2013-11-26 2014-11-25 Adeno-associated virus vectors for treatment of glycogen storage disease

Publications (2)

Publication Number Publication Date
CA2930872A1 CA2930872A1 (en) 2015-06-04
CA2930872C true CA2930872C (en) 2022-05-31

Family

ID=52101617

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2930872A Active CA2930872C (en) 2013-11-26 2014-11-25 Adeno-associated virus vectors for treatment of glycogen storage disease

Country Status (10)

Country Link
US (3) US9644216B2 (https=)
EP (2) EP3074510B1 (https=)
JP (1) JP6649265B2 (https=)
CN (1) CN105934515B (https=)
AU (1) AU2014354839B2 (https=)
CA (1) CA2930872C (https=)
ES (1) ES2690643T3 (https=)
IL (1) IL245659B (https=)
MX (1) MX375360B (https=)
WO (1) WO2015081101A1 (https=)

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SG11201703148TA (en) 2014-11-05 2017-05-30 Voyager Therapeutics Inc Aadc polynucleotides for the treatment of parkinson's disease
CN119876138A (zh) 2014-11-14 2025-04-25 沃雅戈治疗公司 调节性多核苷酸
CA3193811A1 (en) 2014-11-14 2016-05-19 Voyager Therapeutics, Inc. Compositions and methods of treating amyotrophic lateral sclerosis (als)
HK1245326A1 (zh) 2014-12-12 2018-08-24 Voyager Therapeutics, Inc. 用於生产scaav的组合物和方法
JP6824169B2 (ja) 2014-12-23 2021-02-03 ザ ユナイテッド ステイツ オブ アメリカ， アズ リプレゼンテッド バイ ザ セクレタリー， デパートメント オブ ヘルス アンド ヒューマン サービシーズ 改変ｇ６ｐｃをコードするアデノ随伴ウイルスベクターおよびその使用
CA2999649A1 (en) * 2015-11-06 2017-05-11 Crispr Therapeutics Ag Materials and methods for treatment of glycogen storage disease type 1a
EP3448987A4 (en) 2016-04-29 2020-05-27 Voyager Therapeutics, Inc. COMPOSITIONS FOR TREATING A DISEASE
EP3448874A4 (en) 2016-04-29 2020-04-22 Voyager Therapeutics, Inc. COMPOSITIONS FOR TREATING A DISEASE
CA3024448C (en) 2016-05-18 2025-09-09 Voyager Therapeutics, Inc. MODULATING POLYNUCLEOTIDES
CA3024449A1 (en) 2016-05-18 2017-11-23 Voyager Therapeutics, Inc. Compositions and methods of treating huntington's disease
WO2018044933A1 (en) 2016-08-30 2018-03-08 The Regents Of The University Of California Methods for biomedical targeting and delivery and devices and systems for practicing the same
AU2018212002A1 (en) * 2017-01-30 2019-08-29 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Recombinant virus vectors for the treatment of glycogen storage disease
US11963974B2 (en) 2017-03-10 2024-04-23 National Center For Child Health And Development Antisense oligonucleotide and composition for prevention or treatment of glycogen storage disease type Ia
EP3618839A4 (en) 2017-05-05 2021-06-09 Voyager Therapeutics, Inc. COMPOSITIONS AND METHODS OF TREATMENT OF AMYOTROPHIC LATERAL SCLEROSIS (ALS)
JP2020518259A (ja) 2017-05-05 2020-06-25 ボイジャー セラピューティクス インコーポレイテッドＶｏｙａｇｅｒ Ｔｈｅｒａｐｅｕｔｉｃｓ，Ｉｎｃ． ハンチントン病治療組成物および方法
JOP20190269A1 (ar) 2017-06-15 2019-11-20 Voyager Therapeutics Inc بولي نوكليوتيدات aadc لعلاج مرض باركنسون
JP7229989B2 (ja) 2017-07-17 2023-02-28 ボイジャー セラピューティクス インコーポレイテッド 軌道アレイガイドシステム
US20200263199A1 (en) 2017-09-29 2020-08-20 Voyager Therapeutics, Inc. Rescue of central and peripheral neurological phenotype of friedreich's ataxia by intravenous delivery
WO2019079242A1 (en) 2017-10-16 2019-04-25 Voyager Therapeutics, Inc. TREATMENT OF AMYOTROPHIC LATERAL SCLEROSIS (ALS)
TW202413649A (zh) 2017-10-16 2024-04-01 美商航海家醫療公司 肌萎縮性脊髓側索硬化症(als)之治療
CN111511915A (zh) 2018-03-09 2020-08-07 第一三共株式会社 糖原病Ia型治疗药
SG11202011296VA (en) 2018-05-15 2020-12-30 Voyager Therapeutics Inc Compositions and methods for the treatment of parkinson's disease
CA3100213A1 (en) * 2018-05-16 2019-11-21 Spark Therapeutics, Inc. Codon-optimized acid .alpha.-glucosidase expression cassettes and methods of using same
CN112585268B (zh) 2018-06-28 2025-03-04 克里斯珀医疗股份公司 通过插入供体多核苷酸用于基因组编辑的组合物和方法
WO2020056147A2 (en) * 2018-09-13 2020-03-19 Modernatx, Inc. Polynucleotides encoding glucose-6-phosphatase for the treatment of glycogen storage disease
US12281321B2 (en) 2018-09-28 2025-04-22 Voyager Therapeutics, Inc. Frataxin expression constructs having engineered promoters and methods of use thereof
WO2020123269A1 (en) * 2018-12-12 2020-06-18 Merck Sharp & Dohme Corp. Cell-based bioidentity test for insulin
ES2969222T3 (es) * 2018-12-18 2024-05-17 Ultragenyx Pharmaceutical Inc Métodos y composiciones para el tratamiento de enfermedades del almacenamiento de glucógeno
EP3913060A1 (en) * 2020-05-22 2021-11-24 Genethon Vectors encoding a glucose-6-phosphatase (g6pase-a) for gene therapy
CN111972355A (zh) * 2020-08-31 2020-11-24 中国医学科学院北京协和医院 GSDIa型糖原累积症小鼠模型及其构建方法
KR102398032B1 (ko) * 2020-09-22 2022-05-19 비피진 주식회사 암 치료를 위한 5''-뉴클레오티다아제 변이체
US20250222134A1 (en) * 2021-10-19 2025-07-10 University Of Connecticut Compositions and methods for the treatment of glycogen storage disorders

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US6759050B1 (en) 1998-12-03 2004-07-06 Avigen, Inc. Excipients for use in adeno-associated virus pharmaceutical formulations, and pharmaceutical formulations made therewith
DE602004030327D1 (de) 2003-05-21 2011-01-13 Genzyme Corp Verfahren zur herstellung von präparationen rekombinanter aav-virionen, die weitgehend frei von leeren capsiden sind
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DK2529020T3 (en) 2010-01-28 2018-08-06 Childrens Hospital Philadelphia SCALABLE PREPARATION PLATF FOR CLEANING VIRAL VECTORS AND CLEANED VIRAL VECTORS FOR USE IN GENTHERAPY

Also Published As

Publication number Publication date
IL245659B (en) 2020-01-30
EP3415620B1 (en) 2021-03-31
JP2016538885A (ja) 2016-12-15
US10113183B2 (en) 2018-10-30
MX2016006774A (es) 2016-10-13
EP3074510A1 (en) 2016-10-05
AU2014354839A1 (en) 2016-06-09
WO2015081101A1 (en) 2015-06-04
MX375360B (es) 2025-03-06
CN105934515B (zh) 2020-08-04
US9644216B2 (en) 2017-05-09
US20190017069A1 (en) 2019-01-17
US11060110B2 (en) 2021-07-13
AU2014354839B2 (en) 2020-06-04
US20170233763A1 (en) 2017-08-17
EP3415620A1 (en) 2018-12-19
BR112016011997A2 (pt) 2017-09-26
US20160376608A1 (en) 2016-12-29
JP6649265B2 (ja) 2020-02-19
EP3074510B1 (en) 2018-08-01
CA2930872A1 (en) 2015-06-04
ES2690643T3 (es) 2018-11-21
CN105934515A (zh) 2016-09-07
WO2015081101A8 (en) 2016-06-16
IL245659A0 (en) 2016-06-30

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