PE20240915A1 - Composiciones y metodos para tratar la enfermedad de fabry - Google Patents
Composiciones y metodos para tratar la enfermedad de fabryInfo
- Publication number
- PE20240915A1 PE20240915A1 PE2023002056A PE2023002056A PE20240915A1 PE 20240915 A1 PE20240915 A1 PE 20240915A1 PE 2023002056 A PE2023002056 A PE 2023002056A PE 2023002056 A PE2023002056 A PE 2023002056A PE 20240915 A1 PE20240915 A1 PE 20240915A1
- Authority
- PE
- Peru
- Prior art keywords
- sequence
- nucleic acid
- acid sequence
- gla
- seq
- Prior art date
Links
- 208000024720 Fabry Disease Diseases 0.000 title abstract 2
- 239000000203 mixture Substances 0.000 title 1
- 108091028043 Nucleic acid sequence Proteins 0.000 abstract 7
- 150000007523 nucleic acids Chemical group 0.000 abstract 7
- 102100026277 Alpha-galactosidase A Human genes 0.000 abstract 5
- 108091033319 polynucleotide Proteins 0.000 abstract 3
- 102000040430 polynucleotide Human genes 0.000 abstract 3
- 239000002157 polynucleotide Substances 0.000 abstract 3
- 239000013607 AAV vector Substances 0.000 abstract 2
- 102000005840 alpha-Galactosidase Human genes 0.000 abstract 2
- 108010030291 alpha-Galactosidase Proteins 0.000 abstract 2
- 108091026890 Coding region Proteins 0.000 abstract 1
- 108010076504 Protein Sorting Signals Proteins 0.000 abstract 1
- 239000008194 pharmaceutical composition Substances 0.000 abstract 1
Classifications
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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
- C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
- C12N9/14—Hydrolases (3)
- C12N9/24—Hydrolases (3) acting on glycosyl compounds (3.2)
- C12N9/2402—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
- C12N9/2465—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1) acting on alpha-galactose-glycoside bonds, e.g. alpha-galactosidase (3.2.1.22)
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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
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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
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P3/00—Drugs for disorders of the metabolism
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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
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- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K2319/00—Fusion polypeptide
- C07K2319/01—Fusion polypeptide containing a localisation/targetting motif
- C07K2319/02—Fusion polypeptide containing a localisation/targetting motif containing a signal sequence
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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
- 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
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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
- 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
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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
- C12N2830/00—Vector systems having a special element relevant for transcription
- C12N2830/15—Vector systems having a special element relevant for transcription chimeric enhancer/promoter combination
-
- 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
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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
- 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
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Y—ENZYMES
- C12Y302/00—Hydrolases acting on glycosyl compounds, i.e. glycosylases (3.2)
- C12Y302/01—Glycosidases, i.e. enzymes hydrolysing O- and S-glycosyl compounds (3.2.1)
- C12Y302/01022—Alpha-galactosidase (3.2.1.22)
Landscapes
- 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)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Biotechnology (AREA)
- Biomedical Technology (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)
- Virology (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Biophysics (AREA)
- Plant Pathology (AREA)
- Diabetes (AREA)
- Hematology (AREA)
- Obesity (AREA)
- Physics & Mathematics (AREA)
- General Chemical & Material Sciences (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Micro-Organisms Or Cultivation Processes Thereof (AREA)
- Medicines Containing Material From Animals Or Micro-Organisms (AREA)
- Enzymes And Modification Thereof (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
Abstract
Referido un polinucleotido que comprende la secuencia de acido nucleico seleccionada del grupo que consiste en: a) una secuencia de acido nucleico que codifica para alfa-galactosidasa A (GLA), en el que dicha secuencia de acido nucleico es al menos el 85 % identica a la secuencia de SEQ ID NO: 15, y en el que dicha GLA tiene una secuencia al menos el 95 % identica a la secuencia de SEQ ID NO: 100; b) una secuencia de acido nucleico que codifica para alfa-galactosidasa A (GLA), en el que dicha secuencia de acido nucleico comprende un intron en la secuencia codificante para dicha GLA, y en el que dicha GLA tiene una secuencia al menos el 95 % identica a la secuencia de SEQ ID NO: 100; entre otros. En donde dicho polinucleotido comprende ademas una segunda secuencia de acido nucleico, el cual codifica para una secuencia de peptido senal situada en el extremo 5' de la primera secuencia de acido nucleico. Tambien se refiere a una composicion farmaceutica que comprende una pluralidad de vectores de VAA, y un metodo de tratamiento para tratar la enfermedad de Fabry en donde se administra dicho polinucleotido o casete de expresion del mismo, o vector de VAA.
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US202163137235P | 2021-01-14 | 2021-01-14 | |
| US202163264356P | 2021-11-19 | 2021-11-19 | |
| PCT/US2022/070184 WO2022155665A1 (en) | 2021-01-14 | 2022-01-13 | Compositions and methods for treating fabry disease |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| PE20240915A1 true PE20240915A1 (es) | 2024-04-30 |
Family
ID=82448637
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| PE2023002056A PE20240915A1 (es) | 2021-01-14 | 2022-01-13 | Composiciones y metodos para tratar la enfermedad de fabry |
Country Status (12)
| Country | Link |
|---|---|
| US (1) | US20240301380A1 (es) |
| EP (1) | EP4277988A4 (es) |
| JP (1) | JP2024504611A (es) |
| KR (1) | KR20230131246A (es) |
| AU (1) | AU2022207185A1 (es) |
| CA (1) | CA3208153A1 (es) |
| CL (1) | CL2023002015A1 (es) |
| CO (1) | CO2023010599A2 (es) |
| IL (1) | IL304273A (es) |
| MX (1) | MX2023008362A (es) |
| PE (1) | PE20240915A1 (es) |
| WO (1) | WO2022155665A1 (es) |
Families Citing this family (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| KR20240099332A (ko) * | 2021-11-03 | 2024-06-28 | 상가모 테라퓨틱스, 인코포레이티드 | 파브리병의 치료를 위한 바이러스 벡터 작제물의 사용 방법 |
| TW202444387A (zh) * | 2023-03-20 | 2024-11-16 | 美商星火治療公司 | Ｐｐｔ１基因療法 |
| CN117551636B (zh) * | 2023-04-30 | 2024-11-08 | 四川至善唯新生物科技有限公司 | 工程化α-GAL A肽及其功能变体和治疗法布里病的相关方法 |
| US20240360431A1 (en) * | 2023-04-30 | 2024-10-31 | Sichuan Real&Best Biotech Co., Ltd. | Engineered alpha-galactosidase a (a-gal a) peptides and functional variants thereof and associated methods of treating fabry disease |
| WO2025264565A1 (en) * | 2024-06-17 | 2025-12-26 | Spark Therapeutics, Inc. | Promoters |
Family Cites Families (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| HK1206779A1 (en) * | 2012-04-02 | 2016-01-15 | Modernatx, Inc. | Modified polynucleotides for the production of nuclear proteins |
| JP7114485B2 (ja) * | 2016-05-18 | 2022-08-08 | モデルナティエックス インコーポレイテッド | ファブリー病の治療のためのα－ガラクトシダーゼＡをコードするポリヌクレオチド |
| IL266047B2 (en) * | 2016-10-20 | 2025-02-01 | Sangamo Therapeutics Inc | Methods and compositions for the treatment of fabry disease |
| SG11202011191WA (en) * | 2018-05-16 | 2020-12-30 | Spark Therapeutics Inc | Codon-optimized acid αlpha-glucosidase expression cassettes and methods of using same |
| BR112021009913A2 (pt) * | 2018-12-05 | 2021-08-17 | Abeona Therapeutics, Inc. | vetor viral adeno-associado recombinante para inserção gênica |
-
2022
- 2022-01-13 JP JP2023542653A patent/JP2024504611A/ja not_active Withdrawn
- 2022-01-13 MX MX2023008362A patent/MX2023008362A/es unknown
- 2022-01-13 KR KR1020237027400A patent/KR20230131246A/ko not_active Withdrawn
- 2022-01-13 AU AU2022207185A patent/AU2022207185A1/en not_active Abandoned
- 2022-01-13 CA CA3208153A patent/CA3208153A1/en active Pending
- 2022-01-13 EP EP22740258.3A patent/EP4277988A4/en not_active Withdrawn
- 2022-01-13 WO PCT/US2022/070184 patent/WO2022155665A1/en not_active Ceased
- 2022-01-13 US US18/261,285 patent/US20240301380A1/en active Pending
- 2022-01-13 PE PE2023002056A patent/PE20240915A1/es unknown
-
2023
- 2023-07-05 IL IL304273A patent/IL304273A/en unknown
- 2023-07-11 CL CL2023002015A patent/CL2023002015A1/es unknown
- 2023-08-14 CO CONC2023/0010599A patent/CO2023010599A2/es unknown
Also Published As
| Publication number | Publication date |
|---|---|
| EP4277988A4 (en) | 2024-12-11 |
| MX2023008362A (es) | 2023-10-04 |
| IL304273A (en) | 2023-09-01 |
| AU2022207185A9 (en) | 2024-07-25 |
| JP2024504611A (ja) | 2024-02-01 |
| KR20230131246A (ko) | 2023-09-12 |
| EP4277988A1 (en) | 2023-11-22 |
| US20240301380A1 (en) | 2024-09-12 |
| CL2023002015A1 (es) | 2024-03-08 |
| AU2022207185A1 (en) | 2023-07-13 |
| CO2023010599A2 (es) | 2023-09-18 |
| WO2022155665A1 (en) | 2022-07-21 |
| CA3208153A1 (en) | 2022-07-21 |
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