MX2022011030A - Métodos para tratar la enfermedad de fabry en pacientes que tienen una mutación en el gen gla. - Google Patents
Métodos para tratar la enfermedad de fabry en pacientes que tienen una mutación en el gen gla.Info
- Publication number
- MX2022011030A MX2022011030A MX2022011030A MX2022011030A MX2022011030A MX 2022011030 A MX2022011030 A MX 2022011030A MX 2022011030 A MX2022011030 A MX 2022011030A MX 2022011030 A MX2022011030 A MX 2022011030A MX 2022011030 A MX2022011030 A MX 2022011030A
- Authority
- MX
- Mexico
- Prior art keywords
- fabry disease
- methods
- mutation
- patients
- galactosidase
- Prior art date
Links
- 208000024720 Fabry Disease Diseases 0.000 title abstract 5
- 238000000034 method Methods 0.000 title abstract 4
- 230000035772 mutation Effects 0.000 title abstract 2
- 101150014526 Gla gene Proteins 0.000 title 1
- 108010006519 Molecular Chaperones Proteins 0.000 abstract 2
- 230000000144 pharmacologic effect Effects 0.000 abstract 2
- 102000005431 Molecular Chaperones Human genes 0.000 abstract 1
- 108091028043 Nucleic acid sequence Proteins 0.000 abstract 1
- 230000002708 enhancing effect Effects 0.000 abstract 1
- 239000000203 mixture Substances 0.000 abstract 1
- 150000007523 nucleic acids Chemical group 0.000 abstract 1
Classifications
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- 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
- A61K31/44—Non condensed pyridines; Hydrogenated derivatives thereof
- A61K31/445—Non condensed piperidines, e.g. piperocaine
-
- 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
-
- 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
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- General Health & Medical Sciences (AREA)
- Veterinary Medicine (AREA)
- Medicinal Chemistry (AREA)
- Public Health (AREA)
- Pharmacology & Pharmacy (AREA)
- Animal Behavior & Ethology (AREA)
- Organic Chemistry (AREA)
- Engineering & Computer Science (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Chemical & Material Sciences (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Epidemiology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Diabetes (AREA)
- Hematology (AREA)
- Obesity (AREA)
- Genetics & Genomics (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Immunology (AREA)
- Biotechnology (AREA)
- Microbiology (AREA)
- Molecular Biology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Pathology (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Enzymes And Modification Thereof (AREA)
- Medicines Containing Material From Animals Or Micro-Organisms (AREA)
Abstract
Se proporcionan métodos para tratar un paciente diagnosticado con la enfermedad de Fabry y métodos para mejorar la a-galactosidasa A en un paciente diagnosticado o que se sospecha que padece la enfermedad de Fabry. Algunos métodos comprenden administrar a un paciente una dosis terapéuticamente eficaz de una chaperona farmacológica para a-galactosidasa A, en donde el paciente tiene una mutación en la secuencia de ácido nucleico que codifica la a-galactosidasa A. También se describen usos de chaperonas farmacológicas para el tratamiento de la enfermedad de Fabry y composiciones para su uso en el tratamiento de la enfermedad de Fabry.
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US202062986297P | 2020-03-06 | 2020-03-06 | |
| PCT/US2021/020984 WO2021178737A1 (en) | 2020-03-06 | 2021-03-05 | Methods of treating fabry disease in patients having a mutation in the gla gene |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| MX2022011030A true MX2022011030A (es) | 2022-12-13 |
Family
ID=75267607
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| MX2022011030A MX2022011030A (es) | 2020-03-06 | 2021-03-05 | Métodos para tratar la enfermedad de fabry en pacientes que tienen una mutación en el gen gla. |
Country Status (14)
| Country | Link |
|---|---|
| US (1) | US20230136297A1 (es) |
| EP (1) | EP4114390A1 (es) |
| JP (1) | JP2023516753A (es) |
| KR (1) | KR20220152547A (es) |
| CN (1) | CN115427040A (es) |
| AR (1) | AR122390A1 (es) |
| AU (1) | AU2021230371A1 (es) |
| BR (1) | BR112022017881A2 (es) |
| CA (1) | CA3170718A1 (es) |
| CL (1) | CL2022002423A1 (es) |
| IL (1) | IL296221A (es) |
| MX (1) | MX2022011030A (es) |
| TW (1) | TW202146020A (es) |
| WO (1) | WO2021178737A1 (es) |
Families Citing this family (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CA3110065A1 (en) * | 2018-08-20 | 2020-02-27 | Amicus Therapeutics, Inc. | Methods of treating fabry disease in patients having a mutation in the gla gene |
| CN114423428A (zh) | 2019-08-07 | 2022-04-29 | 阿米库斯治疗学公司 | 治疗在gla基因中具有突变的患者的法布里病的方法 |
Family Cites Families (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6274597B1 (en) | 1998-06-01 | 2001-08-14 | Mount Sinai School Of Medicine Of New York University | Method of enhancing lysosomal α-Galactosidase A |
| AU2008232614A1 (en) | 2007-03-30 | 2008-10-09 | Amicus Therapeutics, Inc. | Method for the treatment of Fabry disease using pharmacological chaperones |
| EP2252313B1 (en) * | 2008-02-12 | 2015-04-08 | Amicus Therapeutics, Inc. | Method to predict response to pharmacological chaperone treatment of diseases |
-
2021
- 2021-03-05 TW TW110107854A patent/TW202146020A/zh unknown
- 2021-03-05 CN CN202180028403.5A patent/CN115427040A/zh active Pending
- 2021-03-05 AR ARP210100575A patent/AR122390A1/es unknown
- 2021-03-05 EP EP21715035.8A patent/EP4114390A1/en active Pending
- 2021-03-05 IL IL296221A patent/IL296221A/en unknown
- 2021-03-05 MX MX2022011030A patent/MX2022011030A/es unknown
- 2021-03-05 WO PCT/US2021/020984 patent/WO2021178737A1/en unknown
- 2021-03-05 BR BR112022017881A patent/BR112022017881A2/pt unknown
- 2021-03-05 CA CA3170718A patent/CA3170718A1/en active Pending
- 2021-03-05 KR KR1020227034499A patent/KR20220152547A/ko active Search and Examination
- 2021-03-05 US US17/909,450 patent/US20230136297A1/en active Pending
- 2021-03-05 AU AU2021230371A patent/AU2021230371A1/en active Pending
- 2021-03-05 JP JP2022553583A patent/JP2023516753A/ja active Pending
-
2022
- 2022-09-06 CL CL2022002423A patent/CL2022002423A1/es unknown
Also Published As
| Publication number | Publication date |
|---|---|
| CN115427040A (zh) | 2022-12-02 |
| AU2021230371A1 (en) | 2022-09-29 |
| US20230136297A1 (en) | 2023-05-04 |
| CA3170718A1 (en) | 2021-09-10 |
| AR122390A1 (es) | 2022-09-07 |
| IL296221A (en) | 2022-11-01 |
| WO2021178737A1 (en) | 2021-09-10 |
| TW202146020A (zh) | 2021-12-16 |
| CL2022002423A1 (es) | 2023-05-05 |
| KR20220152547A (ko) | 2022-11-16 |
| EP4114390A1 (en) | 2023-01-11 |
| JP2023516753A (ja) | 2023-04-20 |
| BR112022017881A2 (pt) | 2022-12-06 |
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