WO2024064863A3 - Treatment of arrhythmogenic cardiomyopathy with aav gene therapy vectors - Google Patents

Treatment of arrhythmogenic cardiomyopathy with aav gene therapy vectors Download PDF

Info

Publication number
WO2024064863A3
WO2024064863A3 PCT/US2023/074841 US2023074841W WO2024064863A3 WO 2024064863 A3 WO2024064863 A3 WO 2024064863A3 US 2023074841 W US2023074841 W US 2023074841W WO 2024064863 A3 WO2024064863 A3 WO 2024064863A3
Authority
WO
WIPO (PCT)
Prior art keywords
gene therapy
treatment
therapy vectors
aav gene
arrhythmogenic cardiomyopathy
Prior art date
Application number
PCT/US2023/074841
Other languages
French (fr)
Other versions
WO2024064863A2 (en
Inventor
Peter Cameron COLOSI
Hassibullah Akeefe
Original Assignee
Biomarin Pharmaceutical Inc.
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 Biomarin Pharmaceutical Inc. filed Critical Biomarin Pharmaceutical Inc.
Publication of WO2024064863A2 publication Critical patent/WO2024064863A2/en
Publication of WO2024064863A3 publication Critical patent/WO2024064863A3/en

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
    • 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
    • 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
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • 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
    • A01K2217/00—Genetically modified animals
    • A01K2217/20—Animal model comprising regulated expression system
    • A01K2217/206—Animal model comprising tissue-specific expression system, e.g. tissue specific expression of transgene, of Cre recombinase
    • 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
    • A01K2267/035—Animal model for multifactorial diseases
    • A01K2267/0375—Animal model for cardiovascular diseases
    • 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
    • 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

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Biotechnology (AREA)
  • Wood Science & Technology (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medicinal Chemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Biophysics (AREA)
  • Biomedical Technology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Virology (AREA)
  • Toxicology (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Epidemiology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

Provided herein are gene therapy compositions and methods of treating loss of cardiomyocyte alignment due to reduced levels of functional plakophilin-2 protein in a subject having arrhythmogenic cardiomyopathy. Also provided herein are gene therapy vector components and methods to be used in gene therapy for improving cardiac expression of gene therapy products.
PCT/US2023/074841 2022-09-22 2023-09-22 Treatment of arrhythmogenic cardiomyopathy with aav gene therapy vectors WO2024064863A2 (en)

Applications Claiming Priority (6)

Application Number Priority Date Filing Date Title
US202263376715P 2022-09-22 2022-09-22
US202263376713P 2022-09-22 2022-09-22
US63/376,715 2022-09-22
US63/376,713 2022-09-22
US202363581820P 2023-09-11 2023-09-11
US63/581,820 2023-09-11

Publications (2)

Publication Number Publication Date
WO2024064863A2 WO2024064863A2 (en) 2024-03-28
WO2024064863A3 true WO2024064863A3 (en) 2024-05-02

Family

ID=88793234

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2023/074841 WO2024064863A2 (en) 2022-09-22 2023-09-22 Treatment of arrhythmogenic cardiomyopathy with aav gene therapy vectors

Country Status (1)

Country Link
WO (1) WO2024064863A2 (en)

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2021053222A1 (en) * 2019-09-20 2021-03-25 Ucl Business Ltd Gene therapy composition and treatment of right ventricular arrythmogenic cardiomyopathy
WO2021116138A1 (en) * 2019-12-09 2021-06-17 Ucl Business Ltd Gene therapy composition and treatment for myh7-linked cardiomyopathy
US20210252165A1 (en) * 2020-02-13 2021-08-19 Tenaya Therapeutics, Inc. Gene therapy vectors for treating heart disease
WO2021216456A2 (en) * 2020-04-20 2021-10-28 Tenaya Therapeutics, Inc. Adeno-associated virus with engineered capsid
WO2022032226A1 (en) * 2020-08-07 2022-02-10 Spacecraft Seven, Llc Plakophilin-2 (pkp2) gene therapy using aav vector

Family Cites Families (40)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ATE78293T1 (en) 1983-05-27 1992-08-15 Texas A & M Univ Sys METHOD OF GENERATING A RECOMBINANT BACULOVIRUS EXPRESSION VECTOR.
US4745051A (en) 1983-05-27 1988-05-17 The Texas A&M University System Method for producing a recombinant baculovirus expression vector
DK518384A (en) 1984-01-31 1985-07-01 Idaho Res Found VECTOR FOR THE MANUFACTURE OF A GENE PRODUCT IN INSECT CELLS, PROCEDURE FOR ITS MANUFACTURING AND ITS USE
US5139941A (en) 1985-10-31 1992-08-18 University Of Florida Research Foundation, Inc. AAV transduction vectors
FR2640638B1 (en) 1988-12-20 1991-02-15 Commissariat Energie Atomique BIOREACTOR AND DEVICE FOR THE CULTURE OF ANIMAL CELLS
US6204059B1 (en) 1994-06-30 2001-03-20 University Of Pittsburgh AAV capsid vehicles for molecular transfer
US6281010B1 (en) 1995-06-05 2001-08-28 The Trustees Of The University Of Pennsylvania Adenovirus gene therapy vehicle and cell line
US5756283A (en) 1995-06-05 1998-05-26 The Trustees Of The University Of Pennsylvania Method for improved production of recombinant adeno-associated viruses for gene therapy
US6001650A (en) 1995-08-03 1999-12-14 Avigen, Inc. High-efficiency wild-type-free AAV helper functions
US5622856A (en) 1995-08-03 1997-04-22 Avigen High efficiency helper system for AAV vector production
US6004797A (en) 1995-11-09 1999-12-21 Avigen, Inc. Adenovirus helper-free recombinant AAV Virion production
IL128780A0 (en) 1996-09-06 2000-01-31 Univ Pennsylvania An inducible method for production of recombinant adeno-associated viruses utilizing T7 polymerase
BR9713368A (en) 1996-11-20 2001-09-18 Introgen Therapeutics Inc Improved process for the production and purification of adenoviral vectors
US6566118B1 (en) 1997-09-05 2003-05-20 Targeted Genetics Corporation Methods for generating high titer helper-free preparations of released recombinant AAV vectors
AU9319198A (en) 1997-09-19 1999-04-05 Trustees Of The University Of Pennsylvania, The Methods and vector constructs useful for production of recombinant aav
JP2001517454A (en) 1997-09-19 2001-10-09 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 Methods and cell lines useful for producing recombinant adeno-associated virus
US6953690B1 (en) 1998-03-20 2005-10-11 The Trustees Of The University Of Pennsylvania Compositions and methods for helper-free production of recombinant adeno-associated viruses
ES2235470T3 (en) 1998-03-20 2005-07-01 The Trustees Of The University Of Pennsylvania COMPOSITIONS AND METHODS FOR THE FREE PRODUCTION OF COOPERATORS OF RECOMBINANT DNAOASOCIATED VIRUSES.
JP4693244B2 (en) 1999-03-18 2011-06-01 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 Compositions and methods for helperless production of recombinant adeno-associated virus
US6258595B1 (en) 1999-03-18 2001-07-10 The Trustees Of The University Of Pennsylvania Compositions and methods for helper-free production of recombinant adeno-associated viruses
WO2000075353A1 (en) 1999-06-02 2000-12-14 Trustees Of The University Of Pennsylvania Compositions and methods useful for production of recombinant viruses which require helper viruses
US6365394B1 (en) 1999-09-29 2002-04-02 The Trustees Of The University Of Pennsylvania Cell lines and constructs useful in production of E1-deleted adenoviruses in absence of replication competent adenovirus
WO2001083797A2 (en) 2000-04-28 2001-11-08 Avigen, Inc. Polynucleotides for use in recombinant adeno-associated virus virion production
DE60234824D1 (en) 2001-05-01 2010-02-04 Ca Nat Research Council INDUCIBLE EXPRESSION SYSTEM IN EUKARYOTIC CELLS
US6723551B2 (en) 2001-11-09 2004-04-20 The United States Of America As Represented By The Department Of Health And Human Services Production of adeno-associated virus in insect cells
EP2338900B1 (en) 2001-11-13 2014-01-01 The Trustees of The University of Pennsylvania Adeno-associated virus (AAV) Cy.5 sequences, vectors containing the same and uses thereof
AU2002360291A1 (en) 2001-12-17 2003-06-30 The Trustees Of The University Of Pennsylvania Adeno-associated virus (aav) serotype 8 sequences
WO2003074714A1 (en) 2002-03-05 2003-09-12 Stichting Voor De Technische Wetenschappen Baculovirus expression system
DE602004030327D1 (en) 2003-05-21 2011-01-13 Genzyme Corp METHOD FOR PRODUCING PREPARATIONS OF RECOMBINANT AAV VIRIONS LARGELY FREE FROM EMPTY CAPSIDES
ES2478625T3 (en) 2003-06-20 2014-07-22 The Trustees Of The University Of Pennsylvania Method of generating chimeric adenoviruses and uses of such chimeric adenoviruses
US7291498B2 (en) 2003-06-20 2007-11-06 The Trustees Of The University Of Pennsylvania Methods of generating chimeric adenoviruses and uses for such chimeric adenoviruses
DK2292779T3 (en) 2003-09-30 2017-02-27 Univ Pennsylvania ADENOASS-ASSOCIATED VIRUS (AAV) CLADES, SEQUENCES, VECTORS CONTAINING SAME AND APPLICATIONS THEREOF
US7943379B2 (en) 2008-04-30 2011-05-17 Nationwide Children's Hospital, Inc. Production of rAAV in vero cells using particular adenovirus helpers
PL3044231T3 (en) 2013-09-12 2021-01-11 Biomarin Pharmaceutical Inc. Aav vectors comprising a gene encoding factor viii
US10577627B2 (en) 2014-06-09 2020-03-03 Voyager Therapeutics, Inc. Chimeric capsids
KR20230161535A (en) 2016-07-26 2023-11-27 바이오마린 파머수티컬 인크. Novel adeno-associated virus capsid proteins
JP2021522811A (en) 2018-05-09 2021-09-02 ビオマリン プハルマセウトイカル インコーポレイテッド How to treat phenylketonuria
AR117427A1 (en) 2018-05-14 2021-08-04 Biomarin Pharm Inc STABLE EXPRESSION OF VECTORS OF AAV IN YOUNG SUBJECTS
TW202005978A (en) 2018-05-14 2020-02-01 美商拜奧馬林製藥公司 Novel liver targeting adeno-associated viral vectors
WO2020232044A1 (en) 2019-05-14 2020-11-19 Biomarin Pharmaceutical Inc. Methods of redosing gene therapy vectors

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2021053222A1 (en) * 2019-09-20 2021-03-25 Ucl Business Ltd Gene therapy composition and treatment of right ventricular arrythmogenic cardiomyopathy
WO2021116138A1 (en) * 2019-12-09 2021-06-17 Ucl Business Ltd Gene therapy composition and treatment for myh7-linked cardiomyopathy
US20210252165A1 (en) * 2020-02-13 2021-08-19 Tenaya Therapeutics, Inc. Gene therapy vectors for treating heart disease
WO2021216456A2 (en) * 2020-04-20 2021-10-28 Tenaya Therapeutics, Inc. Adeno-associated virus with engineered capsid
WO2022032226A1 (en) * 2020-08-07 2022-02-10 Spacecraft Seven, Llc Plakophilin-2 (pkp2) gene therapy using aav vector

Also Published As

Publication number Publication date
WO2024064863A2 (en) 2024-03-28

Similar Documents

Publication Publication Date Title
Schlosshauer et al. Topological distribution of different forms of neural cell adhesion molecule in the developing chick visual system
EP4257155A3 (en) Compositions and methods for treating wilson's disease
MX2020013313A (en) Aav cardiac gene therapy for cardiomyopathy.
WO2024064863A3 (en) Treatment of arrhythmogenic cardiomyopathy with aav gene therapy vectors
RU2020121390A (en) SynP61, A PROMOTER SPECIFIC FOR PRIMAT REPITEL PIGMENT EPITHELIAL CELLS
WO2020160508A8 (en) Methods for using transcription-dependent directed evolution of aav capsids
WO2021163357A3 (en) Gene therapy vectors for treating heart disease
WO2020163743A8 (en) Compositions and methods for treating sensorineural hearing loss using otoferlin dual vector systems
ITO et al. The primary structures and properties of non‐stomach lysozymes of sheep and cow, and implication for functional divergence of lysozyme
WO2022031914A3 (en) Methods of treating cardiac disorders and congestive heart failure and administering aav vectors
MX2023009714A (en) Methods for treating sensorineural hearing loss using otoferlin dual vector systems.
WO2019243370A3 (en) Balanced resistance and avirulence gene expression
WO1998050079A3 (en) Techniques and compositions for treating heart failure and ventricular remodeling by in vivo delivery of angiogenic transgenes
CN109852584B (en) Composition with effect of promoting mesenchymal stem cells to secrete cytokines and application
CL2023001876A1 (en) Viral capsid proteins with specificity for cardiac tissue cells
BR112023024078A2 (en) PRODUCTION OF RECOMBINANT AAV VECTORS FOR THE TREATMENT OF MUSCULAR DYSTROPHY
WO2010030396A3 (en) Novel shrna gene therapy for treatment of ischemic heart disease
AU2018368716A1 (en) Covalent treatment for keratin-containing materials
TW201909882A (en) Hair fortifier
Chaudhri et al. Contractile effects of adenovirally-mediated increases in SERCA2a activity: a comparison between adult rat and rabbit ventricular myocytes
Yamamoto et al. Purification and isoelectric heterogeneity of chicken tyrosinase
WO2022169633A1 (en) Composition comprising a hydrolyzed keratin and a silane crosslinking agent and process for hair protection during bleaching
WO2023212521A3 (en) Treatments of disorders of myelin
WO2024011203A3 (en) Ocular vectors and uses thereof
Breitwieser Characterization of the (Na++ K+)-ATPase in a membranous preparation from the optic ganglion of the squid (Loligo pealei)

Legal Events

Date Code Title Description
121 Ep: the epo has been informed by wipo that ep was designated in this application

Ref document number: 23805770

Country of ref document: EP

Kind code of ref document: A2