RU2017110868A - Лечение синдрома ретта - Google Patents
Лечение синдрома ретта Download PDFInfo
- Publication number
- RU2017110868A RU2017110868A RU2017110868A RU2017110868A RU2017110868A RU 2017110868 A RU2017110868 A RU 2017110868A RU 2017110868 A RU2017110868 A RU 2017110868A RU 2017110868 A RU2017110868 A RU 2017110868A RU 2017110868 A RU2017110868 A RU 2017110868A
- Authority
- RU
- Russia
- Prior art keywords
- nucleic acid
- pcr
- rett syndrome
- mecp2
- molecular weight
- Prior art date
Links
- 208000006289 Rett Syndrome Diseases 0.000 title claims 5
- 238000000034 method Methods 0.000 claims 5
- 108020004707 nucleic acids Proteins 0.000 claims 5
- 102000039446 nucleic acids Human genes 0.000 claims 5
- 150000007523 nucleic acids Chemical class 0.000 claims 5
- 238000003752 polymerase chain reaction Methods 0.000 claims 5
- 102000006890 Methyl-CpG-Binding Protein 2 Human genes 0.000 claims 4
- 108010072388 Methyl-CpG-Binding Protein 2 Proteins 0.000 claims 4
- 239000000203 mixture Substances 0.000 claims 4
- 101150083522 MECP2 gene Proteins 0.000 claims 3
- 239000003814 drug Substances 0.000 claims 3
- 230000035772 mutation Effects 0.000 claims 3
- 238000012163 sequencing technique Methods 0.000 claims 3
- 229940124597 therapeutic agent Drugs 0.000 claims 3
- 108091026890 Coding region Proteins 0.000 claims 2
- 101001087394 Homo sapiens Tyrosine-protein phosphatase non-receptor type 1 Proteins 0.000 claims 2
- 102100033001 Tyrosine-protein phosphatase non-receptor type 1 Human genes 0.000 claims 2
- 239000003153 chemical reaction reagent Substances 0.000 claims 2
- 238000001514 detection method Methods 0.000 claims 2
- 239000003112 inhibitor Substances 0.000 claims 2
- 239000003801 protein tyrosine phosphatase 1B inhibitor Substances 0.000 claims 2
- 108090000623 proteins and genes Proteins 0.000 claims 2
- -1 2-carbamoyl-2-methanesulfonylaminoethyl Chemical group 0.000 claims 1
- 102100034343 Integrase Human genes 0.000 claims 1
- 208000012902 Nervous system disease Diseases 0.000 claims 1
- 108010092799 RNA-directed DNA polymerase Proteins 0.000 claims 1
- 238000004458 analytical method Methods 0.000 claims 1
- 208000029560 autism spectrum disease Diseases 0.000 claims 1
- 238000003745 diagnosis Methods 0.000 claims 1
- 125000001028 difluoromethyl group Chemical group [H]C(F)(F)* 0.000 claims 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 claims 1
- 238000009396 hybridization Methods 0.000 claims 1
- 238000011065 in-situ storage Methods 0.000 claims 1
- 238000010208 microarray analysis Methods 0.000 claims 1
- 239000008194 pharmaceutical composition Substances 0.000 claims 1
- 125000001997 phenyl group Chemical group [H]C1=C([H])C([H])=C(*)C([H])=C1[H] 0.000 claims 1
- 238000003753 real-time PCR Methods 0.000 claims 1
- 238000003757 reverse transcription PCR Methods 0.000 claims 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
- A61K31/66—Phosphorus compounds
- A61K31/662—Phosphorus acids or esters thereof having P—C bonds, e.g. foscarnet, trichlorfon
-
- 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
-
- 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
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07F—ACYCLIC, CARBOCYCLIC OR HETEROCYCLIC COMPOUNDS CONTAINING ELEMENTS OTHER THAN CARBON, HYDROGEN, HALOGEN, OXYGEN, NITROGEN, SULFUR, SELENIUM OR TELLURIUM
- C07F9/00—Compounds containing elements of Groups 5 or 15 of the Periodic Table
- C07F9/02—Phosphorus compounds
- C07F9/28—Phosphorus compounds with one or more P—C bonds
- C07F9/38—Phosphonic acids [RP(=O)(OH)2]; Thiophosphonic acids ; [RP(=X1)(X2H)2(X1, X2 are each independently O, S or Se)]
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07F—ACYCLIC, CARBOCYCLIC OR HETEROCYCLIC COMPOUNDS CONTAINING ELEMENTS OTHER THAN CARBON, HYDROGEN, HALOGEN, OXYGEN, NITROGEN, SULFUR, SELENIUM OR TELLURIUM
- C07F9/00—Compounds containing elements of Groups 5 or 15 of the Periodic Table
- C07F9/02—Phosphorus compounds
- C07F9/28—Phosphorus compounds with one or more P—C bonds
- C07F9/38—Phosphonic acids [RP(=O)(OH)2]; Thiophosphonic acids ; [RP(=X1)(X2H)2(X1, X2 are each independently O, S or Se)]
- C07F9/3804—Phosphonic acids [RP(=O)(OH)2]; Thiophosphonic acids ; [RP(=X1)(X2H)2(X1, X2 are each independently O, S or Se)] not used, see subgroups
- C07F9/3808—Acyclic saturated acids which can have further substituents on alkyl
-
- 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
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Medicinal Chemistry (AREA)
- Pharmacology & Pharmacy (AREA)
- Animal Behavior & Ethology (AREA)
- Public Health (AREA)
- Veterinary Medicine (AREA)
- Epidemiology (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Biochemistry (AREA)
- Molecular Biology (AREA)
- Engineering & Computer Science (AREA)
- Genetics & Genomics (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biophysics (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biotechnology (AREA)
- Physics & Mathematics (AREA)
- Pathology (AREA)
- General Engineering & Computer Science (AREA)
- Biomedical Technology (AREA)
- Neurology (AREA)
- Neurosurgery (AREA)
- Chemical Kinetics & Catalysis (AREA)
- General Chemical & Material Sciences (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Steroid Compounds (AREA)
- Medicines Containing Material From Animals Or Micro-Organisms (AREA)
- Acyclic And Carbocyclic Compounds In Medicinal Compositions (AREA)
Claims (13)
1. Способ лечения синдрома Ретта, включающий введение нуждающемуся в этом субъекту, представляющему собой человека, эффективного количества терапевтического агента, который представляет собой {[2-бром-4-(2-карбамоил-2-метансульфониламиноэтил)фенил]дифторметил}-фосфоновую кислоту (СРТ157633) или ее производное, или аналог.
2. Способ по п. 1, отличающийся тем, что указанный терапевтический агент вводят субъекту после диагностирования синдрома Ретта.
3. Способ по любому из пп. 1 и 2, дополнительно включающий тестирование субъекта на предмет мутации в гене, кодирующем метил-CpG-связывающий белок 2 (МЕСР2).
4. Способ по п. 3, отличающийся тем, что тестирование включает детектирование нуклеиновой кислоты, и указанное детектирование нуклеиновой кислоты представляет собой анализ, выбранный из группы, состоящей из полимеразной цепной реакции (ПЦР), полимеразной цепной реакции с обратной транскриптазой (ОТ-ПЦР), количественной ПЦР, секвенирования нуклеиновой кислоты, микроматричного анализа нуклеиновой кислоты и флуоресцентной гибридизации in situ.
5. Способ по п. 3, отличающийся тем, что тестирование включает секвенирование нуклеиновой кислоты для одной или более кодирующих областей и границ экзон/интрон гена МЕСР2.
6. Система, содержащая первую фармацевтическую композицию, содержащую эффективное количество первого терапевтического агента, который представляет собой низкомолекулярный ингибитор РТР1В, и набор для диагностики синдрома Ретта.
7. Система по п. 6, отличающаяся тем, что указанный низкомолекулярный ингибитор РТР1В представляет собой СРТ157633.
8. Система по п. 6, отличающаяся тем, что указанный набор содержит реагент для детектирования мутации в гене, кодирующем метил-CpG-связывающий белок 2 (МЕСР2).
9. Система по п. 8, отличающаяся тем, что указанный реагент включает праймеры для ПЦР для секвенирования на основе ПЦР для одной или более кодирующих областей и границ экзон/интрон гена МЕСР2.
10. Композиция, содержащая низкомолекулярный ингибитор РТР1В, для применения для лечения неврологического нарушения, характеризующегося мутациями в гене МЕСР2.
11. Композиция по п. 10, отличающаяся тем, что указанное нарушение представляет собой расстройство аутистического спектра.
12. Композиция по п. 11, отличающаяся тем, что указанное расстройство представляет собой синдром Ретта.
13. Композиция по любому из пп. 11 и 12, отличающаяся тем, что низкомолекулярный ингибитор РТР1В представляет собой СРТ157633.
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462055433P | 2014-09-25 | 2014-09-25 | |
| US62/055,433 | 2014-09-25 | ||
| US201562185214P | 2015-06-26 | 2015-06-26 | |
| US62/185,214 | 2015-06-26 | ||
| PCT/US2015/051594 WO2016049110A1 (en) | 2014-09-25 | 2015-09-23 | Treatment of rett syndrome |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| RU2017110868A true RU2017110868A (ru) | 2018-10-25 |
Family
ID=55581927
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| RU2017110868A RU2017110868A (ru) | 2014-09-25 | 2015-09-23 | Лечение синдрома ретта |
Country Status (11)
| Country | Link |
|---|---|
| US (2) | US20170296561A1 (ru) |
| EP (1) | EP3197904B1 (ru) |
| JP (1) | JP2017531629A (ru) |
| KR (1) | KR20170070068A (ru) |
| AU (3) | AU2015320748A1 (ru) |
| CA (1) | CA2962406A1 (ru) |
| ES (1) | ES2927649T3 (ru) |
| IL (1) | IL251350A0 (ru) |
| MX (1) | MX2017003892A (ru) |
| RU (1) | RU2017110868A (ru) |
| WO (1) | WO2016049110A1 (ru) |
Families Citing this family (3)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN105950774A (zh) * | 2016-07-11 | 2016-09-21 | 江苏医诺万细胞诊疗有限公司 | 一种基于二代测序检测Rett综合症致病基因SNP位点的试剂盒及其检测方法 |
| EP3528807A4 (en) * | 2016-11-22 | 2020-06-17 | Ovid Therapeutics Inc | METHOD FOR TREATING DEVELOPMENT DISORDERS AND / OR FALLS WITH FLUPIRTIN |
| WO2020234363A2 (en) * | 2019-05-21 | 2020-11-26 | INSERM (Institut National de la Santé et de la Recherche Médicale) | Expression vector for cholesterol 24-hydrolase in therapy of rett syndrome |
Family Cites Families (20)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US5888767A (en) | 1996-11-27 | 1999-03-30 | The Johns Hopkins University School Of Medicine | Method of using a conditionally replicating viral vector to express a gene |
| US5786213A (en) | 1996-04-18 | 1998-07-28 | Board Of Regents, The University Of Texas System | Inhibition of endogenous gastrin expression for treatment of colorectal cancer |
| US7732129B1 (en) | 1998-12-01 | 2010-06-08 | Crucell Holland B.V. | Method for the production and purification of adenoviral vectors |
| US6506559B1 (en) | 1997-12-23 | 2003-01-14 | Carnegie Institute Of Washington | Genetic inhibition by double-stranded RNA |
| DE19956568A1 (de) | 1999-01-30 | 2000-08-17 | Roland Kreutzer | Verfahren und Medikament zur Hemmung der Expression eines vorgegebenen Gens |
| US6709817B1 (en) | 1999-09-07 | 2004-03-23 | Baylor College Of Medicine | Method of screening Rett syndrome by detecting a mutation in MECP2 |
| AU2001249622B2 (en) | 2000-03-30 | 2007-06-07 | Massachusetts Institute Of Technology | RNA sequence-specific mediators of RNA interference |
| WO2002044321A2 (en) | 2000-12-01 | 2002-06-06 | MAX-PLANCK-Gesellschaft zur Förderung der Wissenschaften e.V. | Rna interference mediating small rna molecules |
| US20040191926A1 (en) * | 2001-09-26 | 2004-09-30 | Zhong-Yin Zhang | Ptp1b inhibitors and ligands |
| WO2005062854A2 (en) | 2003-12-19 | 2005-07-14 | University Of Cincinnati | Polyamides for nucleic acid delivery |
| JP2008050263A (ja) * | 2004-11-11 | 2008-03-06 | Univ Kurume | Ｒｅｔｔ症候群を治療する医薬 |
| WO2006055525A2 (en) | 2004-11-15 | 2006-05-26 | Ceptyr, Inc. | Protein tyrosine phosphatase inhibitors and methods of use thereof |
| WO2008042973A2 (en) | 2006-10-03 | 2008-04-10 | Alnylam Pharmaceuticals, Inc. | Lipid containing formulations |
| BRPI0812768A2 (pt) | 2007-06-08 | 2014-12-02 | Massachusetts Inst Technology | Igf para o tratamento de síndrome de rett e transtornos sinápticos. |
| US20090176312A1 (en) | 2007-12-04 | 2009-07-09 | Selinfreund Richard H | Biological and chemical test media and system |
| CN102388139A (zh) | 2008-11-04 | 2012-03-21 | 艾德拉药物股份有限公司 | 通过反义寡核苷酸来调制Toll样受体5表达 |
| WO2010126590A1 (en) | 2009-04-27 | 2010-11-04 | Cold Spring Harbor Laboratory | Ptp1b inhibitors |
| GB201002627D0 (en) | 2010-02-16 | 2010-03-31 | Loxbridge Res Llp | Aptamer based analyte detection method |
| US8980553B2 (en) | 2011-04-02 | 2015-03-17 | New England Biolabs, Inc. | Methods and compositions for enriching either target polynucleotides or non-target polynucleotides from a mixture of target and non-target polynucleotides |
| WO2013163455A2 (en) * | 2012-04-25 | 2013-10-31 | The Regents Of The University Of California | A drug screening platform for rett syndrome |
-
2015
- 2015-09-23 CA CA2962406A patent/CA2962406A1/en active Pending
- 2015-09-23 US US15/514,415 patent/US20170296561A1/en not_active Abandoned
- 2015-09-23 WO PCT/US2015/051594 patent/WO2016049110A1/en active Application Filing
- 2015-09-23 RU RU2017110868A patent/RU2017110868A/ru not_active Application Discontinuation
- 2015-09-23 JP JP2017516430A patent/JP2017531629A/ja active Pending
- 2015-09-23 EP EP15843249.2A patent/EP3197904B1/en active Active
- 2015-09-23 ES ES15843249T patent/ES2927649T3/es active Active
- 2015-09-23 AU AU2015320748A patent/AU2015320748A1/en not_active Abandoned
- 2015-09-23 MX MX2017003892A patent/MX2017003892A/es unknown
- 2015-09-23 KR KR1020177010810A patent/KR20170070068A/ko unknown
-
2017
- 2017-03-23 IL IL251350A patent/IL251350A0/en unknown
-
2019
- 2019-04-08 US US16/377,875 patent/US11660306B2/en active Active
-
2020
- 2020-04-08 AU AU2020202426A patent/AU2020202426A1/en not_active Abandoned
-
2022
- 2022-04-07 AU AU2022202323A patent/AU2022202323B2/en active Active
Also Published As
| Publication number | Publication date |
|---|---|
| WO2016049110A1 (en) | 2016-03-31 |
| JP2017531629A (ja) | 2017-10-26 |
| EP3197904B1 (en) | 2022-08-10 |
| ES2927649T3 (es) | 2022-11-08 |
| AU2022202323B2 (en) | 2024-01-25 |
| US20170296561A1 (en) | 2017-10-19 |
| IL251350A0 (en) | 2017-05-29 |
| EP3197904A1 (en) | 2017-08-02 |
| EP3197904A4 (en) | 2018-05-16 |
| AU2015320748A1 (en) | 2017-04-20 |
| KR20170070068A (ko) | 2017-06-21 |
| MX2017003892A (es) | 2018-01-30 |
| US20190247408A1 (en) | 2019-08-15 |
| US11660306B2 (en) | 2023-05-30 |
| CA2962406A1 (en) | 2016-03-31 |
| AU2020202426A1 (en) | 2020-05-07 |
| AU2022202323A1 (en) | 2022-04-28 |
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Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| FA93 | Acknowledgement of application withdrawn (no request for examination) |
Effective date: 20180924 |