BR112022011916A2 - Composições para tratar a ataxia de friedreich - Google Patents

Composições para tratar a ataxia de friedreich

Info

Publication number
BR112022011916A2
BR112022011916A2 BR112022011916A BR112022011916A BR112022011916A2 BR 112022011916 A2 BR112022011916 A2 BR 112022011916A2 BR 112022011916 A BR112022011916 A BR 112022011916A BR 112022011916 A BR112022011916 A BR 112022011916A BR 112022011916 A2 BR112022011916 A2 BR 112022011916A2
Authority
BR
Brazil
Prior art keywords
ataxia
compositions
treat friedreich
raav
friedreich
Prior art date
Application number
BR112022011916A
Other languages
English (en)
Inventor
M Wilson James
Hinderer Christian
MILLER Nimrod
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 BR112022011916A2 publication Critical patent/BR112022011916A2/pt

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
    • A61K48/0008—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
    • 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
    • A61K47/00—Medicinal preparations characterised by the non-active ingredients used, e.g. carriers or inert additives; Targeting or modifying agents chemically bound to the active ingredient
    • A61K47/02—Inorganic compounds
    • 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
    • A61K48/0075—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
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P9/00—Drugs for disorders of the cardiovascular system
    • 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
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/0306—Animal model for genetic diseases
    • A01K2267/0318—Animal model for neurodegenerative disease, e.g. non- Alzheimer's
    • 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
    • C12N2310/00—Structure or type of the nucleic acid
    • C12N2310/10—Type of nucleic acid
    • C12N2310/14—Type of nucleic acid interfering N.A.
    • C12N2310/141—MicroRNAs, miRNAs
    • 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
    • C12N2750/14122—New viral proteins or individual genes, new structural or functional aspects of known viral proteins or genes
    • 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
    • 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
    • C12N2750/14151—Methods of production or purification of viral material
    • 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
    • C12N2750/14151—Methods of production or purification of viral material
    • C12N2750/14152—Methods of production or purification of viral material relating to complementing cells and packaging systems for producing virus or viral particles
    • 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
    • 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
    • C12N2830/50—Vector systems having a special element relevant for transcription regulating RNA stability, not being an intron, e.g. poly A signal

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Animal Behavior & Ethology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Biomedical Technology (AREA)
  • Zoology (AREA)
  • Epidemiology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Plant Pathology (AREA)
  • Microbiology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Virology (AREA)
  • Physics & Mathematics (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • Toxicology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Heart & Thoracic Surgery (AREA)
  • Cardiology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Hospice & Palliative Care (AREA)
  • Psychiatry (AREA)
  • Inorganic Chemistry (AREA)
  • Medicines Containing Material From Animals Or Micro-Organisms (AREA)

Abstract

COMPOSIÇÕES PARA TRATAR ATAXIA DE FRIEDREICH. A presente invenção refere-se a um vírus adenoassociado recombinante (rAAV) compreendendo um capsídeo de AAV e um genoma de vetor compreendendo um gene de frataxina. Também é fornecida uma composição contendo uma quantidade eficaz de rAAV para melhorar os sintomas da ataxia de Freidreich, incluindo, por exemplo, redução na progressão para declínio neurocognitivo e/ou cardiomiopatia.
BR112022011916A 2019-12-19 2020-12-18 Composições para tratar a ataxia de friedreich BR112022011916A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201962950834P 2019-12-19 2019-12-19
PCT/US2020/066167 WO2021127533A1 (en) 2019-12-19 2020-12-18 Compositions for treating friedreich's ataxia

Publications (1)

Publication Number Publication Date
BR112022011916A2 true BR112022011916A2 (pt) 2022-09-06

Family

ID=76478598

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112022011916A BR112022011916A2 (pt) 2019-12-19 2020-12-18 Composições para tratar a ataxia de friedreich

Country Status (7)

Country Link
US (1) US20230211012A1 (pt)
EP (1) EP4085144A4 (pt)
AU (1) AU2020405149A1 (pt)
BR (1) BR112022011916A2 (pt)
CA (1) CA3162020A1 (pt)
IL (1) IL293972A (pt)
WO (1) WO2021127533A1 (pt)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20240058477A1 (en) * 2021-01-04 2024-02-22 University Of Florida Research Foundation, Incorporated Methods and compositions for treatment of friedreich's ataxia
EP4274592A1 (en) * 2021-01-11 2023-11-15 The Trustees of The University of Pennsylvania Compositions for treating friedreich's ataxia
WO2023044424A1 (en) * 2021-09-17 2023-03-23 Audentes Therapeutics, Inc. Frataxin gene therapy
IL314645A (en) * 2022-02-01 2024-09-01 Univ Cornell Methods and pharmaceutical preparations for the treatment and prevention of myocardial disease associated with Friedreich's ataxia
WO2024130067A2 (en) 2022-12-17 2024-06-20 The Trustees Of The University Of Pennsylvania Recombinant aav mutant vectors with cardiac and skeletal muscle-specific targeting motifs and compositions containing same
WO2024130070A2 (en) 2022-12-17 2024-06-20 The Trustees Of The University Of Pennsylvania Recombinant aav capsids with cardiac- and skeletal muscle- specific targeting motifs and uses thereof

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3134115A4 (en) * 2014-04-25 2017-10-25 The Trustees Of The University Of Pennsylvania Methods and compositions for treating metastatic breast cancer and other cancers in the brain
EP3245221A4 (en) * 2015-01-16 2018-06-13 Voyager Therapeutics, Inc. Central nervous system targeting polynucleotides
EP3285788A4 (en) * 2015-04-23 2018-12-05 University of Massachusetts Modulation of aav vector transgene expression
US10548947B2 (en) * 2015-11-05 2020-02-04 Bamboo Therapeutics, Inc. Modified Friedreich ataxia genes and vectors for gene therapy
JP7221275B2 (ja) * 2017-08-03 2023-02-13 ボイジャー セラピューティクス インコーポレイテッド Ａａｖを送達するための組成物および方法
EP3746560A4 (en) * 2018-02-02 2021-12-01 University of Massachusetts CAMPAIGN SERIES OF RECOMBINANT ADENO-ASSOCIATED VIRUS (RAAV) COMPLEMENTING PLASMIDS

Also Published As

Publication number Publication date
IL293972A (en) 2022-08-01
US20230211012A1 (en) 2023-07-06
WO2021127533A1 (en) 2021-06-24
EP4085144A1 (en) 2022-11-09
AU2020405149A1 (en) 2022-07-07
EP4085144A4 (en) 2024-03-27
CA3162020A1 (en) 2021-06-24

Similar Documents

Publication Publication Date Title
BR112022011916A2 (pt) Composições para tratar a ataxia de friedreich
BR112021011143A2 (pt) Composições para redução específica de drg da expressão de transgene
BR112021020545A2 (pt) Capsídeos de aav e composições contendo os mesmos
MX2021012311A (es) Variantes de capsides de aav para liberacion intravitrea.
WO2022040527A3 (en) Adeno-associated virus compositions having preferred expression levels
BR112012026730A2 (pt) vetor viral adeno-associado recombinante, pluralidade de partículas virais infecciosas, células hospedeira de mamífero, kit, uso de composição, métodos para prevenir, tratar ou melhorar doença, disfunção, distúrbio, deficiência ou condição anormal em manífero de um ou mais sintomas dos mesmos, para prover quantidade terapeuticamente eficaz de peptídeo, polipeptídeo ou proteína de guanilato ciclase a mamífero biologicamente ativo em necessidade da mesma, para aumentar o nível de proteína retgc1 biologicamente em um ou mais células retinais de mamífero e para tratar ou melhorar um ou mais sintomas de distrofia retinal em mamífero
BR112022022212A2 (pt) Composições para redução específica de drg de expressão de transgene
MX2023001863A (es) Nuevas cápsides de aav y composiciones que las contienen.
CO2021005443A2 (es) Composiciones útiles para tratar la gangliosidosis gm1
BR112022003389A2 (pt) Proteína vp1 modificada isolada do capsídeo do sorotipo 5 do vírus adeno-associado (aav5), ácido nucleico isolado, capsídeo isolado, vetor baseado em raav5 e seu uso, composição farmacêutica, método para entrega de produto gênico
CO2022014515A2 (es) Itr libres de cpg para terapia génica aav
UY39582A (es) Vacuna basada en aav5 para la inducción de inmunidad específica contra el sarscov- 2 y/o la prevención de la infección por coronavirus relacionada con el sarscov- 2
UY39396A (es) Vacuna basada en aav5 para la inducción de inmunidad específica contra el sarscov-2 y/o la prevención de la infección por coronavirus relacionada con el sarscov-2
BR112023001336A2 (pt) Terapia gênica de csrp3 (proteína 3 rica em cisteína e glicina)
CL2023001876A1 (es) Proteínas de la cápside viral con especificidad para las células del tejido cardiaco
BR112023012293A2 (pt) Composições de protoparvovírus e tetraparvovírus e métodos para terapia gênica
BR112023001418A2 (pt) Vetor viral adeno-associado para expressão de glut1 e seus usos
BR112022021762A2 (pt) Composições úteis em tratamento de distúrbio de deficiência de cdkl5 (cdd)
BR112018012015A2 (pt) vetores virais adeno-associados para tratar mucolipidose tipo ii
MX2023000995A (es) Vector de genoterapia para eef1a2 y usos del mismo.
UY39426A (es) Composiciones y métodos para tratar la esclerosis lateral amiotrófica (ela) con aav-mir-sod1
BR112022003206A2 (pt) Métodos para tratar doenças neovasculares oculares usando variantes de aav2 que codificam aflibercepte
BR112023021245A2 (pt) Composições úteis para tratar atrofia muscular espi-nhal e bulbar (sbma)
EA202192936A1 (ru) Варианты капсидов aav для доставки в стекловидное тело
CR20240088A (es) Proteína VP1 modificada y aislada de la cápside del virus adenoasociado del serotipo 5 (AAV5), cápside y vector basados en esta