[go: up one dir, main page]

AR125143A1 - Terapias génicas para la deficiencia de la 21-hidroxilasa - Google Patents

Terapias génicas para la deficiencia de la 21-hidroxilasa

Info

Publication number
AR125143A1
AR125143A1 ARP220100635A ARP220100635A AR125143A1 AR 125143 A1 AR125143 A1 AR 125143A1 AR P220100635 A ARP220100635 A AR P220100635A AR P220100635 A ARP220100635 A AR P220100635A AR 125143 A1 AR125143 A1 AR 125143A1
Authority
AR
Argentina
Prior art keywords
hydroxylase
vector
protein
nucleotide sequence
effective amount
Prior art date
Application number
ARP220100635A
Other languages
English (en)
Inventor
Clayton Beard
Kamal Bharucha
Pierre Bougneres
Eric David
Rachel Eclov
Rafael Escandon
Genevieve Laforet
Adam Shaywitz
Original Assignee
Adrenas Therapeutics 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 Adrenas Therapeutics Inc filed Critical Adrenas Therapeutics Inc
Publication of AR125143A1 publication Critical patent/AR125143A1/es

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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/0004—Oxidoreductases (1.)
    • C12N9/0071—Oxidoreductases (1.) acting on paired donors with incorporation of molecular oxygen (1.14)
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins
    • A61K31/435—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom
    • A61K31/4353—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom ortho- or peri-condensed with heterocyclic ring systems
    • A61K31/436—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring hetero atom ortho- or peri-condensed with heterocyclic ring systems the heterocyclic ring system containing a six-membered ring having oxygen as a ring hetero atom, e.g. rapamycin
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/56—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids
    • A61K31/57—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids substituted in position 17 beta by a chain of two carbon atoms, e.g. pregnane or progesterone
    • A61K31/573—Compounds containing cyclopenta[a]hydrophenanthrene ring systems; Derivatives thereof, e.g. steroids substituted in position 17 beta by a chain of two carbon atoms, e.g. pregnane or progesterone substituted in position 21, e.g. cortisone, dexamethasone, prednisone or aldosterone
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
    • A61K45/06—Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
    • 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
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P5/00—Drugs for disorders of the endocrine system
    • A61P5/38—Drugs for disorders of the endocrine system of the suprarenal hormones
    • A61P5/40—Mineralocorticosteroids, e.g. aldosterone; Drugs increasing or potentiating the activity of mineralocorticosteroids
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P5/00—Drugs for disorders of the endocrine system
    • A61P5/38—Drugs for disorders of the endocrine system of the suprarenal hormones
    • A61P5/44—Glucocorticosteroids; Drugs increasing or potentiating the activity of glucocorticosteroids
    • 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
    • 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K2300/00—Mixtures or combinations of active ingredients, wherein at least one active ingredient is fully defined in groups A61K31/00 - A61K41/00
    • 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
    • A61K38/44—Oxidoreductases (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
    • 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
    • C12N2800/00—Nucleic acids vectors
    • C12N2800/22—Vectors comprising a coding region that has been codon optimised for expression in a respective host
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y114/00—Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14)
    • C12Y114/14—Oxidoreductases acting on paired donors, with incorporation or reduction of molecular oxygen (1.14) with reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (1.14.14)

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Organic Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • General Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Biomedical Technology (AREA)
  • Epidemiology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Plant Pathology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Virology (AREA)
  • Endocrinology (AREA)
  • Diabetes (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)
  • Enzymes And Modification Thereof (AREA)
  • Steroid Compounds (AREA)
  • Saccharide Compounds (AREA)
  • Nitrogen And Oxygen Or Sulfur-Condensed Heterocyclic Ring Systems (AREA)
  • Medicinal Preparation (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)

Abstract

En la presente descripción se describen los vectores de virus asociados recombinantes que expresan la proteína 21-hidroxilasa (21OH) y sus usos relacionados para tratar la deficiencia de la 21OH. Reivindicación 1: Un método, que comprende: administrar a un sujeto una cantidad terapéuticamente efectiva de un vector de virus adenoasociado recombinante (rAAV), en donde el vector de rAAV comprende: (i) una molécula de ácido nucleico que comprende al menos una repetición terminal invertida (ITR) de AAV y (ii) una secuencia de nucleótidos que no es de AAV que codifica una proteína 21-hidroxilasa (21OH), en donde la secuencia de nucleótidos que no es de AAV está operativamente unida a un promotor; y en donde la cantidad terapéuticamente efectiva está en el intervalo de aproximadamente 10¹² genomas de vectores por kilogramo (vg/kg) a aproximadamente 10¹⁴ vg/kg.
ARP220100635A 2021-03-19 2022-03-18 Terapias génicas para la deficiencia de la 21-hidroxilasa AR125143A1 (es)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US202163163634P 2021-03-19 2021-03-19

Publications (1)

Publication Number Publication Date
AR125143A1 true AR125143A1 (es) 2023-06-14

Family

ID=81308190

Family Applications (1)

Application Number Title Priority Date Filing Date
ARP220100635A AR125143A1 (es) 2021-03-19 2022-03-18 Terapias génicas para la deficiencia de la 21-hidroxilasa

Country Status (8)

Country Link
US (1) US20240191213A1 (es)
EP (1) EP4308711A1 (es)
JP (1) JP2024511024A (es)
KR (1) KR20230159837A (es)
AR (1) AR125143A1 (es)
BR (1) BR112023018430A2 (es)
CA (1) CA3212876A1 (es)
WO (1) WO2022198038A1 (es)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2019143803A1 (en) 2018-01-17 2019-07-25 Adrenas Therapeutics, Inc. Adeno-associated virus gene therapy for 21-hydroxylase deficiency
CN116350801A (zh) * 2022-11-22 2023-06-30 四川至善唯新生物科技有限公司 一种重组腺相关病毒载体的药物组合物及其用途
KR20250135893A (ko) * 2023-07-29 2025-09-15 리미티드 라이어빌리티 컴퍼니 〈〈 제네틱 테크놀로지스〉〉 (엘엘씨 〈〈제네틱 테크놀로지스〉〉) 아데노-연관 바이러스-기반 발현 벡터

Family Cites Families (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5478745A (en) 1992-12-04 1995-12-26 University Of Pittsburgh Recombinant viral vector system
US6136597A (en) 1997-09-18 2000-10-24 The Salk Institute For Biological Studies RNA export element
WO2003052051A2 (en) 2001-12-17 2003-06-26 The Trustees Of The University Of Pennsylvania Adeno-associated virus (aav) serotype 8 sequences
WO2003052052A2 (en) 2001-12-17 2003-06-26 The Trustees Of The University Of Pennsylvania Adeno-associated virus (aav) serotype 9 sequences, vectors containing same, and uses therefor
EP1486567A1 (en) 2003-06-11 2004-12-15 Deutsches Krebsforschungszentrum Stiftung des öffentlichen Rechts Improved adeno-associated virus (AAV) vector for gene therapy
NZ545628A (en) 2003-09-30 2009-04-30 Univ Pennsylvania Adeno-associated virus (AAV) clades, sequences, vectors containing same, and uses therefor
US8865881B2 (en) 2011-02-22 2014-10-21 California Institute Of Technology Delivery of proteins using adeno-associated virus (AAV) vectors
NZ716102A (en) 2013-07-22 2021-12-24 The Children’S Hospital Of Philadelphia Variant aav and compositions, methods and uses for gene transfer to cells, organs and tissues
EP3054006A1 (en) 2015-02-09 2016-08-10 Institut National De La Sante Et De La Recherche Medicale (Inserm) Recombinant adeno-associated virus particle purification with multiple-step anion exchange chromatography
WO2019143803A1 (en) * 2018-01-17 2019-07-25 Adrenas Therapeutics, Inc. Adeno-associated virus gene therapy for 21-hydroxylase deficiency

Also Published As

Publication number Publication date
EP4308711A1 (en) 2024-01-24
KR20230159837A (ko) 2023-11-22
WO2022198038A1 (en) 2022-09-22
US20240191213A1 (en) 2024-06-13
BR112023018430A2 (pt) 2023-11-28
JP2024511024A (ja) 2024-03-12
CA3212876A1 (en) 2022-09-22

Similar Documents

Publication Publication Date Title
AR125143A1 (es) Terapias génicas para la deficiencia de la 21-hidroxilasa
MX2022009560A (es) Proceso de fabricacion de vectores virales adenoasociados.
JP2020510429A5 (es)
JPWO2020206189A5 (es)
PE20220930A1 (es) Composiciones utiles en el tratamiento de leucodistrofia metacromatica
MX2022014258A (es) Composiciones para la reducción específica de un fármaco de la expresión de transgén.
BR112023001418A2 (pt) Vetor viral adeno-associado para expressão de glut1 e seus usos
JPWO2020223232A5 (es)
AR123838A1 (es) Vector mejorado de virus adenoasociado (aav) y usos de este
JPWO2019169004A5 (es)
PE20221254A1 (es) Proteina vp1 modificada aislada de la capside del virus adeno-asociado de serotipo 5 (aav5), capside y vector basado en la misma
BR112022019304A2 (pt) Variantes de capsídeo de aav e usos das mesmas
AR123524A1 (es) Composiciones y métodos para tratar la esclerosis lateral amiotrófica (ela) con aav-mir-sod1
AR123826A1 (es) Molécula polinucleotídica recombinante aislada que codifica una proteína disferlina humana, sistema de vectores virales adenoasociados (aav) duales, sistema de empaquetamiento de aav y métodos relacionados
CL2022003132A1 (es) Composiciones útiles para el tratamiento de la enfermedad de pompe.
US11517631B2 (en) Factor IX encoding nucleotides
JPWO2021226267A5 (es)
AR130683A1 (es) Terapia génica para enfermedades y trastornos asociados con trem2
AR130556A1 (es) Tratamiento de la miocardiopatía con vectores de genoterapia con aav
CO2024017288A2 (es) Composiciones y métodos para el tratamiento de la pérdida auditiva no relacionada con la edad en un sujeto humano
AR123956A1 (es) Cápsides de aav y composiciones que las contienen
AR127206A1 (es) Cápsides de aav novedosas y composiciones que las contienen
JPWO2021080991A5 (es)
AR125467A1 (es) Cápsides de virus adenoasociados derivados de porcinos y usos de los estos
AR132161A1 (es) Tratamiento de la degeneración macular senil seca