BR112022017181A2 - Tratamento de bestrofinopatias autossômicas dominantes e métodos para avaliação das mesmas - Google Patents
Tratamento de bestrofinopatias autossômicas dominantes e métodos para avaliação das mesmasInfo
- Publication number
- BR112022017181A2 BR112022017181A2 BR112022017181A BR112022017181A BR112022017181A2 BR 112022017181 A2 BR112022017181 A2 BR 112022017181A2 BR 112022017181 A BR112022017181 A BR 112022017181A BR 112022017181 A BR112022017181 A BR 112022017181A BR 112022017181 A2 BR112022017181 A2 BR 112022017181A2
- Authority
- BR
- Brazil
- Prior art keywords
- methods
- evaluate
- treatment
- bestropinopathies
- bestrophinopathies
- Prior art date
Links
- 238000000034 method Methods 0.000 title abstract 5
- 238000011282 treatment Methods 0.000 title abstract 3
- 101000903449 Homo sapiens Bestrophin-1 Proteins 0.000 abstract 2
- 108700028369 Alleles Proteins 0.000 abstract 1
- 208000023068 Autosomal recessive bestrophinopathy Diseases 0.000 abstract 1
- 102100022794 Bestrophin-1 Human genes 0.000 abstract 1
- 241000702421 Dependoparvovirus Species 0.000 abstract 1
- 108091028043 Nucleic acid sequence Proteins 0.000 abstract 1
- 201000007737 Retinal degeneration Diseases 0.000 abstract 1
- 208000006999 bestrophinopathy Diseases 0.000 abstract 1
- 102000049740 human BEST1 Human genes 0.000 abstract 1
- 150000007523 nucleic acids Chemical group 0.000 abstract 1
- 230000004258 retinal degeneration Effects 0.000 abstract 1
Classifications
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- 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
- C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
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- 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
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B3/00—Apparatus for testing the eyes; Instruments for examining the eyes
- A61B3/10—Objective types, i.e. instruments for examining the eyes independent of the patients' perceptions or reactions
- A61B3/102—Objective types, i.e. instruments for examining the eyes independent of the patients' perceptions or reactions for optical coherence tomography [OCT]
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B3/00—Apparatus for testing the eyes; Instruments for examining the eyes
- A61B3/10—Objective types, i.e. instruments for examining the eyes independent of the patients' perceptions or reactions
- A61B3/12—Objective types, i.e. instruments for examining the eyes independent of the patients' perceptions or reactions for looking at the eye fundus, e.g. ophthalmoscopes
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B3/00—Apparatus for testing the eyes; Instruments for examining the eyes
- A61B3/10—Objective types, i.e. instruments for examining the eyes independent of the patients' perceptions or reactions
- A61B3/14—Arrangements specially adapted for eye photography
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B5/00—Measuring for diagnostic purposes; Identification of persons
- A61B5/40—Detecting, measuring or recording for evaluating the nervous system
- A61B5/4058—Detecting, measuring or recording for evaluating the nervous system for evaluating the central nervous system
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B5/00—Measuring for diagnostic purposes; Identification of persons
- A61B5/48—Other medical applications
- A61B5/4848—Monitoring or testing the effects of treatment, e.g. of medication
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- 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
- A61K35/761—Adenovirus
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- 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
- A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- A61K38/1703—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
- A61K38/1709—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
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- 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
- A61K38/17—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- A61K38/177—Receptors; Cell surface antigens; Cell surface determinants
-
- 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
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P27/00—Drugs for disorders of the senses
- A61P27/02—Ophthalmic agents
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- 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
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- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
- A61B5/00—Measuring for diagnostic purposes; Identification of persons
- A61B5/103—Detecting, measuring or recording devices for testing the shape, pattern, colour, size or movement of the body or parts thereof, for diagnostic purposes
- A61B5/107—Measuring physical dimensions, e.g. size of the entire body or parts thereof
- A61B5/1075—Measuring physical dimensions, e.g. size of the entire body or parts thereof for measuring dimensions by non-invasive methods, e.g. for determining thickness of tissue layer
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- 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
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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- 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
- C12N2750/14145—Special targeting system for viral vectors
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- Health & Medical Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Chemical & Material Sciences (AREA)
- General Health & Medical Sciences (AREA)
- Animal Behavior & Ethology (AREA)
- Public Health (AREA)
- Veterinary Medicine (AREA)
- Genetics & Genomics (AREA)
- Medicinal Chemistry (AREA)
- Molecular Biology (AREA)
- Pharmacology & Pharmacy (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Organic Chemistry (AREA)
- Biomedical Technology (AREA)
- Biotechnology (AREA)
- Zoology (AREA)
- Epidemiology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Virology (AREA)
- Ophthalmology & Optometry (AREA)
- Wood Science & Technology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Gastroenterology & Hepatology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Immunology (AREA)
- Heart & Thoracic Surgery (AREA)
- Medical Informatics (AREA)
- Surgery (AREA)
- Microbiology (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Chemical Kinetics & Catalysis (AREA)
- General Chemical & Material Sciences (AREA)
- Plant Pathology (AREA)
- Cell Biology (AREA)
- Marine Sciences & Fisheries (AREA)
- Pathology (AREA)
- Neurology (AREA)
Abstract
TRATAMENTO DE BESTROFINOPATIAS AUTOSSÔMICAS DOMINANTES E MÉTODOS PARA AVALIAÇÃO DAS MESMAS. Métodos para tratar bestrofinopatias são fornecidos neste documento. O método inclui administrar a um olho do sujeito uma dose de um vetor de vírus adenoassociado recombinante (rAAV) compreendendo uma sequência de ácidos nucleicos que codifica uma proteína BEST1 humana, em que o sujeito tem pelo menos um alelo de BEST1 mutante. Também são fornecidos métodos para avaliar tratamentos para degeneração da retina.
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US202062983046P | 2020-02-28 | 2020-02-28 | |
US202062983052P | 2020-02-28 | 2020-02-28 | |
PCT/US2021/020169 WO2021174173A1 (en) | 2020-02-28 | 2021-02-28 | Treating autosomal dominant bestrophinopathies and methods for evaluating same |
Publications (1)
Publication Number | Publication Date |
---|---|
BR112022017181A2 true BR112022017181A2 (pt) | 2022-11-08 |
Family
ID=77491596
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
BR112022017181A BR112022017181A2 (pt) | 2020-02-28 | 2021-02-28 | Tratamento de bestrofinopatias autossômicas dominantes e métodos para avaliação das mesmas |
BR112022017182A BR112022017182A2 (pt) | 2020-02-28 | 2021-02-28 | Tratamento de bestrofinopatias autossômicas recessivas e métodos para avaliação das mesmas |
Family Applications After (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
BR112022017182A BR112022017182A2 (pt) | 2020-02-28 | 2021-02-28 | Tratamento de bestrofinopatias autossômicas recessivas e métodos para avaliação das mesmas |
Country Status (9)
Country | Link |
---|---|
US (2) | US20230139443A1 (pt) |
EP (2) | EP4110932A4 (pt) |
JP (2) | JP2023516637A (pt) |
CN (2) | CN115552018A (pt) |
AU (2) | AU2021226603A1 (pt) |
BR (2) | BR112022017181A2 (pt) |
CA (2) | CA3168365A1 (pt) |
IL (2) | IL295672A (pt) |
WO (2) | WO2021174173A1 (pt) |
Families Citing this family (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN116738352B (zh) * | 2023-08-14 | 2023-12-22 | 武汉大学人民医院(湖北省人民医院) | 视网膜血管阻塞疾病的视杆细胞异常分类方法及装置 |
Family Cites Families (6)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
ES2539329B1 (es) * | 2013-11-29 | 2016-05-12 | Universidad De Valladolid | Composición farmacéutica para el tratamiento y/o prevención deenfermedades retinianas degenerativas |
WO2015200214A1 (en) * | 2014-06-23 | 2015-12-30 | Wisconsin Alumni Research Foundation | Use of inhibitors of acid sphingomyelinase to treat acquired and inherited retinal degenerations |
WO2016176690A2 (en) * | 2015-04-30 | 2016-11-03 | The Trustees Of Columbia University In The City Of New York | Gene therapy for autosomal dominant diseases |
US20210093734A1 (en) * | 2018-02-20 | 2021-04-01 | The Trustees Of The University Of Pennsylvania | Compositions for treatment of wet age-realted macular degeneration |
EP3775233A1 (en) * | 2018-04-05 | 2021-02-17 | Oxford University Innovation Limited | Compositions and methods for treating macular dystrophy |
US20220033826A1 (en) * | 2018-08-31 | 2022-02-03 | University Of Florida Research Foundation, Incorporated | Adeno-associated viral vectors for the treatment of best disease |
-
2021
- 2021-02-28 JP JP2022552142A patent/JP2023516637A/ja active Pending
- 2021-02-28 CA CA3168365A patent/CA3168365A1/en active Pending
- 2021-02-28 AU AU2021226603A patent/AU2021226603A1/en active Pending
- 2021-02-28 JP JP2022550965A patent/JP2023515541A/ja active Pending
- 2021-02-28 WO PCT/US2021/020169 patent/WO2021174173A1/en active Application Filing
- 2021-02-28 IL IL295672A patent/IL295672A/en unknown
- 2021-02-28 CN CN202180017177.0A patent/CN115552018A/zh active Pending
- 2021-02-28 AU AU2021228287A patent/AU2021228287A1/en active Pending
- 2021-02-28 EP EP21760802.5A patent/EP4110932A4/en active Pending
- 2021-02-28 IL IL295673A patent/IL295673A/en unknown
- 2021-02-28 CA CA3168387A patent/CA3168387A1/en active Pending
- 2021-02-28 BR BR112022017181A patent/BR112022017181A2/pt not_active Application Discontinuation
- 2021-02-28 EP EP21761832.1A patent/EP4110466A4/en active Pending
- 2021-02-28 US US17/904,899 patent/US20230139443A1/en active Pending
- 2021-02-28 WO PCT/US2021/020171 patent/WO2021174175A1/en active Application Filing
- 2021-02-28 CN CN202180017223.7A patent/CN115243766A/zh active Pending
- 2021-02-28 BR BR112022017182A patent/BR112022017182A2/pt not_active Application Discontinuation
- 2021-02-28 US US17/904,903 patent/US20230112568A1/en active Pending
Also Published As
Publication number | Publication date |
---|---|
IL295673A (en) | 2022-10-01 |
IL295672A (en) | 2022-10-01 |
EP4110466A4 (en) | 2024-03-27 |
AU2021228287A1 (en) | 2022-10-27 |
JP2023516637A (ja) | 2023-04-20 |
WO2021174175A1 (en) | 2021-09-02 |
CA3168387A1 (en) | 2021-09-02 |
BR112022017182A2 (pt) | 2022-11-08 |
US20230112568A1 (en) | 2023-04-13 |
EP4110932A4 (en) | 2024-03-27 |
US20230139443A1 (en) | 2023-05-04 |
CN115552018A (zh) | 2022-12-30 |
CN115243766A (zh) | 2022-10-25 |
AU2021226603A1 (en) | 2022-10-27 |
EP4110466A1 (en) | 2023-01-04 |
WO2021174173A1 (en) | 2021-09-02 |
CA3168365A1 (en) | 2021-09-02 |
JP2023515541A (ja) | 2023-04-13 |
EP4110932A1 (en) | 2023-01-04 |
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