ECSP12012317A - Marcadores predictivos útiles en el tratamiento del síndrome frágil x (fxs) - Google Patents
Marcadores predictivos útiles en el tratamiento del síndrome frágil x (fxs)Info
- Publication number
- ECSP12012317A ECSP12012317A ECSP12012317A ECSP12012317A EC SP12012317 A ECSP12012317 A EC SP12012317A EC SP12012317 A ECSP12012317 A EC SP12012317A EC SP12012317 A ECSP12012317 A EC SP12012317A
- Authority
- EC
- Ecuador
- Prior art keywords
- fxs
- treatment
- predictive markers
- useful predictive
- fragile
- Prior art date
Links
- 208000011580 syndromic disease Diseases 0.000 title 1
- 208000001914 Fragile X syndrome Diseases 0.000 abstract 2
- 239000000090 biomarker Substances 0.000 abstract 1
- 239000003512 metabotropic receptor antagonist Substances 0.000 abstract 1
Classifications
-
- 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
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
- G01N33/5308—Immunoassay; Biospecific binding assay; Materials therefor for analytes not provided for elsewhere, e.g. nucleic acids, uric acid, worms, mites
-
- 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
- C12Q2600/154—Methylation markers
-
- 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
- C12Q2600/158—Expression markers
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Engineering & Computer Science (AREA)
- Analytical Chemistry (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- Immunology (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Microbiology (AREA)
- Pathology (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biophysics (AREA)
- Biomedical Technology (AREA)
- Hematology (AREA)
- Urology & Nephrology (AREA)
- General Physics & Mathematics (AREA)
- Medicinal Chemistry (AREA)
- Tropical Medicine & Parasitology (AREA)
- Food Science & Technology (AREA)
- Cell Biology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
- Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
- Medicines Containing Material From Animals Or Micro-Organisms (AREA)
- Peptides Or Proteins (AREA)
Abstract
La invención se refiere al uso de biomarcadores para determinar la posibilidad de respuesta de un individuo con síndrome X frágil (FXS) al tratamiento con un antagonista del receptor de glutamato metabotrópico 5 (mGluR5).
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US33029910P | 2010-04-30 | 2010-04-30 | |
| US37919710P | 2010-09-01 | 2010-09-01 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| ECSP12012317A true ECSP12012317A (es) | 2013-01-31 |
Family
ID=44121075
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ECSP12012317 ECSP12012317A (es) | 2010-04-30 | 2012-11-29 | Marcadores predictivos útiles en el tratamiento del síndrome frágil x (fxs) |
Country Status (22)
| Country | Link |
|---|---|
| US (1) | US20130052644A1 (es) |
| EP (1) | EP2563934A1 (es) |
| JP (1) | JP2013524840A (es) |
| KR (1) | KR20130100906A (es) |
| CN (1) | CN102869791A (es) |
| AU (1) | AU2011245372A1 (es) |
| BR (1) | BR112012027816A2 (es) |
| CA (1) | CA2797854A1 (es) |
| CL (1) | CL2012003027A1 (es) |
| EC (1) | ECSP12012317A (es) |
| GT (1) | GT201200293A (es) |
| IL (1) | IL222534A0 (es) |
| MA (1) | MA34263B1 (es) |
| MX (1) | MX2012012615A (es) |
| PE (1) | PE20130213A1 (es) |
| PH (1) | PH12012502017A1 (es) |
| RU (1) | RU2012151273A (es) |
| SG (1) | SG184458A1 (es) |
| TN (1) | TN2012000485A1 (es) |
| TW (1) | TW201142293A (es) |
| WO (1) | WO2011137206A1 (es) |
| ZA (1) | ZA201207481B (es) |
Families Citing this family (20)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2012019168A2 (en) | 2010-08-06 | 2012-02-09 | Moderna Therapeutics, Inc. | Engineered nucleic acids and methods of use thereof |
| EP2625189B1 (en) | 2010-10-01 | 2018-06-27 | ModernaTX, Inc. | Engineered nucleic acids and methods of use thereof |
| EP2655326A1 (en) * | 2010-12-20 | 2013-10-30 | Novartis AG | 4- (hetero) aryl - ethynyl - octahydro - indole - 1 - carboxylic acid esters |
| AU2012236099A1 (en) | 2011-03-31 | 2013-10-03 | Moderna Therapeutics, Inc. | Delivery and formulation of engineered nucleic acids |
| US9464124B2 (en) | 2011-09-12 | 2016-10-11 | Moderna Therapeutics, Inc. | Engineered nucleic acids and methods of use thereof |
| DE19216461T1 (de) | 2011-10-03 | 2021-10-07 | Modernatx, Inc. | Modifizierte nukleoside, nukleotide und nukleinsäuren und verwendungen davon |
| CA3018046A1 (en) | 2011-12-16 | 2013-06-20 | Moderna Therapeutics, Inc. | Modified nucleoside, nucleotide, and nucleic acid compositions |
| WO2013131981A1 (en) | 2012-03-08 | 2013-09-12 | Novartis Ag | Predictive markers useful in the diagnosis and treatment of fragile x syndrome (fxs) |
| US9254311B2 (en) | 2012-04-02 | 2016-02-09 | Moderna Therapeutics, Inc. | Modified polynucleotides for the production of proteins |
| US9283287B2 (en) | 2012-04-02 | 2016-03-15 | Moderna Therapeutics, Inc. | Modified polynucleotides for the production of nuclear proteins |
| US9572897B2 (en) | 2012-04-02 | 2017-02-21 | Modernatx, Inc. | Modified polynucleotides for the production of cytoplasmic and cytoskeletal proteins |
| WO2013151665A2 (en) | 2012-04-02 | 2013-10-10 | modeRNA Therapeutics | Modified polynucleotides for the production of proteins associated with human disease |
| PL2922554T3 (pl) | 2012-11-26 | 2022-06-20 | Modernatx, Inc. | Na zmodyfikowany na końcach |
| US8980864B2 (en) | 2013-03-15 | 2015-03-17 | Moderna Therapeutics, Inc. | Compositions and methods of altering cholesterol levels |
| WO2014152600A2 (en) * | 2013-03-15 | 2014-09-25 | The United States Of America, As Represented By The Secretary, Department Of Health And Human Services | Measurement of cellular fmrp levels for high throughput drug screening and diagnosis of fragile x syndrome |
| EP3052521A1 (en) | 2013-10-03 | 2016-08-10 | Moderna Therapeutics, Inc. | Polynucleotides encoding low density lipoprotein receptor |
| RU2696481C2 (ru) | 2013-10-14 | 2019-08-02 | Индиана Юниверсити Рисерч Энд Текнолоджи Корпорейшн | Применение акампросата для модулирования активации erk1/2 в животных моделях fxs и asd и людей с диагностированными fxs и asd |
| CN103981253A (zh) * | 2014-03-27 | 2014-08-13 | 江苏佰龄全基因生物医学技术有限公司 | 一种用于检测脆性x染色体综合征的cgg重复数及agg插入信息的pcr试剂盒 |
| US20230414611A1 (en) * | 2020-11-13 | 2023-12-28 | Children's Hospital Medical Center | Refined uses of gaba a receptor modulators in treatment of fragile x syndrome |
| WO2023182298A1 (ja) * | 2022-03-22 | 2023-09-28 | 国立大学法人京都大学 | 脆弱x症候群の治療または予防薬 |
Family Cites Families (11)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6017704A (en) | 1996-06-03 | 2000-01-25 | The Johns Hopkins University School Of Medicine | Method of detection of methylated nucleic acid using agents which modify unmethylated cytosine and distinguishing modified methylated and non-methylated nucleic acids |
| US5786146A (en) | 1996-06-03 | 1998-07-28 | The Johns Hopkins University School Of Medicine | Method of detection of methylated nucleic acid using agents which modify unmethylated cytosine and distinguishing modified methylated and non-methylated nucleic acids |
| US6143504A (en) * | 1998-10-27 | 2000-11-07 | Arch Development Corporation | Methods and compositions for the diagnosis of fragile X syndrome |
| GB0128996D0 (en) * | 2001-12-04 | 2002-01-23 | Novartis Ag | Organic compounds |
| WO2004014881A2 (en) | 2002-08-09 | 2004-02-19 | Astra Zeneca Ab | '1,2,4'oxadiazoles as modulators of metabotropic glutamate receptor-5 |
| JP4453297B2 (ja) | 2003-05-27 | 2010-04-21 | トヨタ自動車株式会社 | 車両用遊星歯車式多段変速機 |
| TW200801005A (en) | 2005-08-15 | 2008-01-01 | Astrazeneca Ab | Acetylenic piperazines as metabotropic glutamate receptor antagonists |
| US20090042195A1 (en) * | 2005-10-07 | 2009-02-12 | Bradford Coffee | Methods and systems for screening for and diagnosing dna methylation associated abnormalities and sex chromosome aneuploidies |
| US7855053B2 (en) * | 2006-07-19 | 2010-12-21 | The Regents Of The University Of California | Methods for detecting the presence of expanded CGG repeats in the FMR1 gene 5′ untranslated region |
| CA2732693A1 (en) | 2008-08-04 | 2010-02-11 | Novartis Ag | Bioassay for polyq protein |
| US20100248239A1 (en) * | 2009-03-24 | 2010-09-30 | Mayo Foundation For Medical Education And Research | Methods and materials for detecting fragile x mutations |
-
2011
- 2011-04-28 US US13/695,214 patent/US20130052644A1/en not_active Abandoned
- 2011-04-28 PE PE2012002106A patent/PE20130213A1/es not_active Application Discontinuation
- 2011-04-28 KR KR1020127031312A patent/KR20130100906A/ko not_active Withdrawn
- 2011-04-28 WO PCT/US2011/034244 patent/WO2011137206A1/en not_active Ceased
- 2011-04-28 EP EP11719705A patent/EP2563934A1/en not_active Withdrawn
- 2011-04-28 AU AU2011245372A patent/AU2011245372A1/en not_active Abandoned
- 2011-04-28 BR BR112012027816A patent/BR112012027816A2/pt not_active IP Right Cessation
- 2011-04-28 MA MA35412A patent/MA34263B1/fr unknown
- 2011-04-28 CA CA2797854A patent/CA2797854A1/en not_active Abandoned
- 2011-04-28 JP JP2013508235A patent/JP2013524840A/ja active Pending
- 2011-04-28 SG SG2012074035A patent/SG184458A1/en unknown
- 2011-04-28 RU RU2012151273/10A patent/RU2012151273A/ru not_active Application Discontinuation
- 2011-04-28 MX MX2012012615A patent/MX2012012615A/es not_active Application Discontinuation
- 2011-04-28 PH PH1/2012/502017A patent/PH12012502017A1/en unknown
- 2011-04-28 CN CN2011800219070A patent/CN102869791A/zh active Pending
- 2011-04-29 TW TW100115217A patent/TW201142293A/zh unknown
-
2012
- 2012-10-05 ZA ZA2012/07481A patent/ZA201207481B/en unknown
- 2012-10-05 TN TNP2012000485A patent/TN2012000485A1/en unknown
- 2012-10-18 IL IL222534A patent/IL222534A0/en unknown
- 2012-10-29 CL CL2012003027A patent/CL2012003027A1/es unknown
- 2012-10-30 GT GT201200293A patent/GT201200293A/es unknown
- 2012-11-29 EC ECSP12012317 patent/ECSP12012317A/es unknown
Also Published As
| Publication number | Publication date |
|---|---|
| KR20130100906A (ko) | 2013-09-12 |
| SG184458A1 (en) | 2012-11-29 |
| AU2011245372A1 (en) | 2012-11-29 |
| PE20130213A1 (es) | 2013-03-19 |
| ZA201207481B (en) | 2013-06-26 |
| WO2011137206A1 (en) | 2011-11-03 |
| JP2013524840A (ja) | 2013-06-20 |
| MX2012012615A (es) | 2012-12-17 |
| CA2797854A1 (en) | 2011-11-03 |
| GT201200293A (es) | 2014-06-09 |
| MA34263B1 (fr) | 2013-05-02 |
| BR112012027816A2 (pt) | 2017-08-08 |
| US20130052644A1 (en) | 2013-02-28 |
| RU2012151273A (ru) | 2014-06-10 |
| CL2012003027A1 (es) | 2014-02-14 |
| CN102869791A (zh) | 2013-01-09 |
| EP2563934A1 (en) | 2013-03-06 |
| IL222534A0 (en) | 2012-12-31 |
| PH12012502017A1 (en) | 2013-01-21 |
| TN2012000485A1 (en) | 2014-04-01 |
| TW201142293A (en) | 2011-12-01 |
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