BR112021001498A2 - vírus adeno-associado recombinante (raav), composição farmacêutica, polinucleotídeo, plasmídeo de raav, célula ex vivo, método de produção de um raav e métodos para tratar um sujeito humano diagnosticado com mucopolissacaridose tipo iva (mps iva) - Google Patents

vírus adeno-associado recombinante (raav), composição farmacêutica, polinucleotídeo, plasmídeo de raav, célula ex vivo, método de produção de um raav e métodos para tratar um sujeito humano diagnosticado com mucopolissacaridose tipo iva (mps iva) Download PDF

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Publication number
BR112021001498A2
BR112021001498A2 BR112021001498-5A BR112021001498A BR112021001498A2 BR 112021001498 A2 BR112021001498 A2 BR 112021001498A2 BR 112021001498 A BR112021001498 A BR 112021001498A BR 112021001498 A2 BR112021001498 A2 BR 112021001498A2
Authority
BR
Brazil
Prior art keywords
nucleotide sequence
hgalns
seq
raav
liver
Prior art date
Application number
BR112021001498-5A
Other languages
English (en)
Portuguese (pt)
Inventor
Shunji Tomatsu
Kazuki SAWAMOTO
Subha Karumuthil Melethil
Olivier Danos
Original Assignee
Regenxbio Inc.
The Nemours Foundation
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 Regenxbio Inc., The Nemours Foundation filed Critical Regenxbio Inc.
Publication of BR112021001498A2 publication Critical patent/BR112021001498A2/pt

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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
    • A61K38/00—Medicinal preparations containing peptides
    • 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
    • A61P19/00—Drugs for skeletal disorders
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61Q—SPECIFIC USE OF COSMETICS OR SIMILAR TOILETRY PREPARATIONS
    • A61Q19/00—Preparations for care of the skin
    • 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)
    • 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
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
    • A01K2217/054—Animals comprising random inserted nucleic acids (transgenic) inducing loss of function
    • 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
    • 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
    • C12Y—ENZYMES
    • C12Y301/00—Hydrolases acting on ester bonds (3.1)
    • C12Y301/06—Sulfuric ester hydrolases (3.1.6)
    • C12Y301/06004—N-Acetylgalactosamine-6-sulfatase (3.1.6.4)

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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)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Plant Pathology (AREA)
  • Virology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Dermatology (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
BR112021001498-5A 2018-07-27 2019-07-26 vírus adeno-associado recombinante (raav), composição farmacêutica, polinucleotídeo, plasmídeo de raav, célula ex vivo, método de produção de um raav e métodos para tratar um sujeito humano diagnosticado com mucopolissacaridose tipo iva (mps iva) BR112021001498A2 (pt)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
US201862711238P 2018-07-27 2018-07-27
US62/711,238 2018-07-27
US201862756880P 2018-11-07 2018-11-07
US62/756,880 2018-11-07
US201962799834P 2019-02-01 2019-02-01
US62/799,834 2019-02-01
PCT/US2019/043631 WO2020023857A1 (en) 2018-07-27 2019-07-26 Treatment of mucopolysaccharidosis iva

Publications (1)

Publication Number Publication Date
BR112021001498A2 true BR112021001498A2 (pt) 2021-04-27

Family

ID=69180546

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112021001498-5A BR112021001498A2 (pt) 2018-07-27 2019-07-26 vírus adeno-associado recombinante (raav), composição farmacêutica, polinucleotídeo, plasmídeo de raav, célula ex vivo, método de produção de um raav e métodos para tratar um sujeito humano diagnosticado com mucopolissacaridose tipo iva (mps iva)

Country Status (12)

Country Link
US (1) US12247213B2 (https=)
EP (1) EP3829619A4 (https=)
JP (1) JP2021531044A (https=)
KR (1) KR20210040984A (https=)
AU (1) AU2019312301A1 (https=)
BR (1) BR112021001498A2 (https=)
CA (1) CA3107800A1 (https=)
CO (1) CO2021002505A2 (https=)
IL (1) IL280343A (https=)
SG (1) SG11202100781VA (https=)
TW (1) TW202039857A (https=)
WO (1) WO2020023857A1 (https=)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TW202039857A (zh) 2018-07-27 2020-11-01 美商銳進科斯生物股份有限公司 黏多醣病iva之治療
US12290574B2 (en) 2018-08-24 2025-05-06 Spark Therapeutics, Inc. Optimized promoter sequences, intron-free expression constructs and methods of use
JP2022544004A (ja) * 2019-07-26 2022-10-17 リジェネックスバイオ インコーポレイテッド 操作された核酸調節エレメントならびにその使用方法
AR121201A1 (es) * 2020-01-29 2022-04-27 Regenxbio Inc Tratamiento de mucopolisacaridosis iva
EP4423285A1 (en) * 2021-10-28 2024-09-04 RegenxBio Inc. Engineered nucleic acid regulatory elements and methods and uses thereof

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US7863238B2 (en) * 2004-06-10 2011-01-04 Saint Louis University Proteins with an attached short peptide of acidic amino acids
US7972593B2 (en) 2004-06-10 2011-07-05 Saint Louis University Delivery of therapeutic agents to the bone
US20070207139A1 (en) 2004-06-10 2007-09-06 Saint Louis University, A Non-Profit Organization Enhancing the effect of therapeutic proteins on the central nervous system
ES2429142T3 (es) 2009-01-30 2013-11-13 Uniqure Ip B.V. Agentes terapéuticos de alanina-glioxilato aminotransferasa
US20140271550A1 (en) 2013-03-14 2014-09-18 The Trustees Of The University Of Pennsylvania Constructs and Methods for Delivering Molecules via Viral Vectors with Blunted Innate Immune Responses
CN120174012A (zh) * 2013-10-24 2025-06-20 优尼科Ip有限公司 用于基因治疗神经疾病的aav-5假型载体
EP3101125A1 (en) * 2015-06-05 2016-12-07 Laboratorios Del Dr. Esteve, S.A. Adenoassociated virus vectors for the treatment of mucopolysaccharidoses
HK1257024A1 (zh) 2015-08-31 2019-10-11 宾夕法尼亚大学 用於治疗伴侣动物的aav-epo
UA128788C2 (uk) 2018-05-30 2024-10-23 Естеве Фармасьютікалз, С.А. Вектор аденоасоційованого вірусу для лікування мукополісахаридозу типу iva
TW202039857A (zh) 2018-07-27 2020-11-01 美商銳進科斯生物股份有限公司 黏多醣病iva之治療
AR121201A1 (es) 2020-01-29 2022-04-27 Regenxbio Inc Tratamiento de mucopolisacaridosis iva

Also Published As

Publication number Publication date
WO2020023857A1 (en) 2020-01-30
EP3829619A1 (en) 2021-06-09
CA3107800A1 (en) 2020-01-30
AU2019312301A1 (en) 2021-02-18
SG11202100781VA (en) 2021-02-25
US12247213B2 (en) 2025-03-11
US20210292789A1 (en) 2021-09-23
CO2021002505A2 (es) 2021-03-08
IL280343A (en) 2021-03-25
JP2021531044A (ja) 2021-11-18
KR20210040984A (ko) 2021-04-14
EP3829619A4 (en) 2022-05-18
TW202039857A (zh) 2020-11-01

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Legal Events

Date Code Title Description
B25G Requested change of headquarter approved

Owner name: THE NEMOURS FOUNDATION (US) ; REGENXBIO INC. (US)

B08F Application dismissed because of non-payment of annual fees [chapter 8.6 patent gazette]

Free format text: REFERENTE A 6A ANUIDADE.

B08K Patent lapsed as no evidence of payment of the annual fee has been furnished to inpi [chapter 8.11 patent gazette]

Free format text: EM VIRTUDE DO ARQUIVAMENTO PUBLICADO NA RPI 2841 DE 17-06-2025 E CONSIDERANDO AUSENCIA DE MANIFESTACAO DENTRO DOS PRAZOS LEGAIS, INFORMO QUE CABE SER MANTIDO O ARQUIVAMENTO DO PEDIDO DE PATENTE, CONFORME O DISPOSTO NO ARTIGO 12, DA RESOLUCAO 113/2013.