IL287523A - Useful preparations for the treatment of Pompe disease - Google Patents

Useful preparations for the treatment of Pompe disease

Info

Publication number
IL287523A
IL287523A IL287523A IL28752321A IL287523A IL 287523 A IL287523 A IL 287523A IL 287523 A IL287523 A IL 287523A IL 28752321 A IL28752321 A IL 28752321A IL 287523 A IL287523 A IL 287523A
Authority
IL
Israel
Prior art keywords
treatment
compositions useful
pompe disease
pompe
disease
Prior art date
Application number
IL287523A
Other languages
English (en)
Hebrew (he)
Original Assignee
Univ 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
Publication date
Application filed by Univ Pennsylvania filed Critical Univ Pennsylvania
Publication of IL287523A publication Critical patent/IL287523A/en

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
    • 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
    • A61K35/00—Medicinal preparations containing materials or reaction products thereof with undetermined constitution
    • A61K35/66—Microorganisms or materials therefrom
    • A61K35/76—Viruses; Subviral particles; Bacteriophages
    • 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
    • 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
    • A61P21/00—Drugs for disorders of the muscular or neuromuscular 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
    • C07K14/575—Hormones
    • C07K14/65—Insulin-like growth factors, i.e. somatomedins, e.g. IGF-1, IGF-2
    • 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
    • C12N15/11—DNA or RNA fragments; Modified forms thereof; Non-coding nucleic acids having a biological activity
    • C12N15/62—DNA sequences coding for fusion proteins
    • C12N15/625—DNA sequences coding for fusion proteins containing a sequence coding for a signal sequence
    • 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)
    • 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)
    • 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
    • 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
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide
    • 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
    • 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)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Biomedical Technology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Biophysics (AREA)
  • Diabetes (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Plant Pathology (AREA)
  • Toxicology (AREA)
  • Endocrinology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Neurology (AREA)
  • Obesity (AREA)
  • Hematology (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Immunology (AREA)
IL287523A 2019-04-30 2021-10-24 Useful preparations for the treatment of Pompe disease IL287523A (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962840911P 2019-04-30 2019-04-30
US201962913401P 2019-10-10 2019-10-10
PCT/US2020/030493 WO2020223362A1 (en) 2019-04-30 2020-04-29 Compositions useful for treatment of pompe disease

Publications (1)

Publication Number Publication Date
IL287523A true IL287523A (en) 2021-12-01

Family

ID=73029176

Family Applications (2)

Application Number Title Priority Date Filing Date
IL287523A IL287523A (en) 2019-04-30 2021-10-24 Useful preparations for the treatment of Pompe disease
IL287522A IL287522A (en) 2019-04-30 2021-10-24 Useful preparations for the treatment of Pompe disease

Family Applications After (1)

Application Number Title Priority Date Filing Date
IL287522A IL287522A (en) 2019-04-30 2021-10-24 Useful preparations for the treatment of Pompe disease

Country Status (16)

Country Link
US (2) US20220193261A1 (OSRAM)
EP (2) EP3963063A4 (OSRAM)
JP (2) JP7585233B2 (OSRAM)
KR (2) KR20220008280A (OSRAM)
CN (2) CN114127275A (OSRAM)
AU (2) AU2020266829A1 (OSRAM)
BR (2) BR112021021792A2 (OSRAM)
CA (2) CA3134485A1 (OSRAM)
CL (2) CL2021002755A1 (OSRAM)
CO (2) CO2021016198A2 (OSRAM)
IL (2) IL287523A (OSRAM)
MX (2) MX2021013365A (OSRAM)
PH (2) PH12021552637A1 (OSRAM)
SG (2) SG11202111380VA (OSRAM)
TW (1) TW202100541A (OSRAM)
WO (2) WO2020223356A1 (OSRAM)

Families Citing this family (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES3065816T3 (en) 2017-06-07 2026-05-08 Regeneron Pharma Compositions and methods for internalizing enzymes
CN112040985A (zh) 2018-02-07 2020-12-04 瑞泽恩制药公司 用于递送治疗性蛋白质的方法和组合物
BR112020023145A2 (pt) 2018-05-17 2021-02-02 Regeneron Pharmaceuticals, Inc. anticorpo anti-cd63 ou fragmento de ligação ao antígeno do mesmo, molécula de ligação ao antígeno biespecífica, proteína terapêutica de múltiplos domínios, polinucleotídeo composição farmacêutica, e, composto
AU2020361703A1 (en) * 2019-10-10 2022-04-28 Amicus Therapeutics, Inc. Variant IGF2 constructs
MX2022014255A (es) * 2020-05-14 2022-12-07 Univ Pennsylvania Composiciones utiles para el tratamiento de la enfermedad de pompe.
JP2023531451A (ja) 2020-06-17 2023-07-24 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 遺伝子療法患者の治療のための組成物及び方法
CA3237987A1 (en) * 2021-11-12 2023-05-19 The Trustees Of The University Of Pennsylvania Gene therapy for treatment of mucopolysaccharidosis iiia
NL2031676B1 (en) * 2022-04-22 2023-11-07 Univ Erasmus Med Ct Rotterdam Gene therapy for Pompe Disease
WO2024003687A1 (en) * 2022-06-28 2024-01-04 Pfizer Inc. Nucleic acids encoding acid alpha-glucosidase (gaa) and vectors for gene therapy
WO2024151982A1 (en) * 2023-01-13 2024-07-18 Amicus Therapeutics, Inc. Gene therapy constructs for the treatment of pompe disease
CN116693633B (zh) * 2023-02-21 2023-12-22 广州派真生物技术有限公司 腺相关病毒突变体及其应用
WO2025171163A1 (en) * 2024-02-06 2025-08-14 Duke University Compositions for and methods of treating lysosomal storage diseases

Family Cites Families (21)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP5433133B2 (ja) * 2003-01-22 2014-03-05 デューク・ユニヴァーシティ リソソームポリペプチドを発現するための改善された構築物
CA2553955C (en) * 2004-02-10 2012-08-28 Zystor Therapeutics, Inc. Acid alpha-glucosidase and fragments thereof
CA2669347A1 (en) * 2006-11-13 2008-05-29 Zystor Therapeutics, Inc. Methods for treating pompe disease
ES2463665T3 (es) * 2007-10-04 2014-05-28 Stella Aps Tratamiento de combinación para el tratamiento de infección por virus de la hepatitis C
ES2629853T3 (es) * 2008-05-07 2017-08-16 Biomarin Pharmaceutical Inc. Péptidos de dirección lisosómica y usos de los mismos
US8466340B2 (en) * 2009-02-18 2013-06-18 Amicus Therapeutics, Inc. Mouse model for pompe disease and methods of use thereof
WO2010099342A2 (en) * 2009-02-25 2010-09-02 Cepheid Methods of detecting lung cancer
EP2475376B1 (en) * 2009-06-17 2016-03-30 BioMarin Pharmaceutical Inc. Formulations for lysosomal enzymes
DK2643468T3 (en) 2010-11-22 2018-09-24 Amicus Therapeutics Inc Hitherto UNKNOWN SIGNAL SEQUENCES TO IMPROVE EXPRESSION AND SECRETARY OF RECOMBINANT ENZYMES AND OTHER PROTEINS
WO2012070014A2 (en) * 2010-11-26 2012-05-31 Yissum Research Development Company Of The Hebrew University Of Jerusalem Ltd. Identification of novel cell surface markers for pancreatic progenitor cells and definite endodermal cells
GB201103062D0 (en) * 2011-02-22 2011-04-06 Isis Innovation Method
TR201802230T4 (tr) * 2011-05-27 2018-03-21 Amicus Therapeutics Inc Lizozomal depo hastalıklarının gelişmiş tedavileri için hedefleyici peptitlerin rekombinan lizozomal enzimler üzerine kenetlenmesi için yöntemler.
WO2013013019A2 (en) * 2011-07-21 2013-01-24 Alnylam Pharmaceuticals, Inc. Lysosomal polypeptides, methods of making and using
JP2017514476A (ja) * 2014-05-01 2017-06-08 ユニバーシティ・オブ・ワシントン アデノウイルスベクターを用いたインビボでの遺伝子操作
EP3875593A1 (en) * 2015-12-11 2021-09-08 California Institute of Technology Targeting peptides for directing adeno-associated viruses (aavs)
SG11201808455VA (en) * 2016-03-30 2018-10-30 Amicus Therapeutics Inc Formulations comprising recombinant acid alpha-glucosidase
EP3293259A1 (en) * 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
EP3293260A1 (en) * 2016-09-12 2018-03-14 Genethon Acid-alpha glucosidase variants and uses thereof
PE20191203A1 (es) * 2016-09-12 2019-09-10 Genethon Variantes de alfa-glucosidasa acida y usos de las mismas
EP3600445A1 (en) * 2017-03-27 2020-02-05 Vrije Universiteit Brussel Diaphragm-specific nucleic acid regulatory elements and methods and use thereof
JP2018198611A (ja) * 2018-08-03 2018-12-20 ウニベルシダッド アウトノマ デ バルセロナ 脂肪組織に形質導入するのに有用なアデノ随伴ウイルスベクター

Also Published As

Publication number Publication date
US20220193261A1 (en) 2022-06-23
KR20220008280A (ko) 2022-01-20
BR112021021720A2 (pt) 2021-12-28
SG11202111400TA (en) 2021-11-29
EP3980548A1 (en) 2022-04-13
SG11202111380VA (en) 2021-11-29
CN114072515A (zh) 2022-02-18
IL287522A (en) 2021-12-01
WO2020223362A8 (en) 2021-01-14
JP2022530824A (ja) 2022-07-01
EP3963063A4 (en) 2023-09-27
CA3134523A1 (en) 2020-11-05
CN114127275A (zh) 2022-03-01
AU2020266552A1 (en) 2021-11-11
CL2021002754A1 (es) 2022-05-27
PH12021552638A1 (en) 2022-08-15
MX2021013364A (es) 2022-01-26
CA3134485A1 (en) 2020-11-05
WO2020223356A1 (en) 2020-11-05
EP3963063A1 (en) 2022-03-09
JP7585233B2 (ja) 2024-11-18
MX2021013365A (es) 2022-01-26
JP2022530833A (ja) 2022-07-01
AU2020266829A1 (en) 2021-11-11
CL2021002755A1 (es) 2022-05-27
WO2020223362A1 (en) 2020-11-05
CO2021016198A2 (es) 2022-01-17
TW202100541A (zh) 2021-01-01
PH12021552637A1 (en) 2022-07-18
EP3980548A4 (en) 2023-09-06
CO2021016200A2 (es) 2022-01-17
KR20220004696A (ko) 2022-01-11
US20220193207A1 (en) 2022-06-23
BR112021021792A2 (pt) 2022-01-04

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