PE20130213A1 - Marcadores predictivos utiles en el tratamiento del sindrome fragil x (fxs) - Google Patents

Marcadores predictivos utiles en el tratamiento del sindrome fragil x (fxs)

Info

Publication number
PE20130213A1
PE20130213A1 PE2012002106A PE2012002106A PE20130213A1 PE 20130213 A1 PE20130213 A1 PE 20130213A1 PE 2012002106 A PE2012002106 A PE 2012002106A PE 2012002106 A PE2012002106 A PE 2012002106A PE 20130213 A1 PE20130213 A1 PE 20130213A1
Authority
PE
Peru
Prior art keywords
fmr1
fragile
fxs
syndrome
treatment
Prior art date
Application number
PE2012002106A
Other languages
English (en)
Inventor
Baltazar Gomez-Mancilla
Yunsheng He
Donald Johns
Joanne Meyer
Charles Paulding
Original Assignee
Novartis Ag
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Family has litigation
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=44121075&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=PE20130213(A1) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by Novartis Ag filed Critical Novartis Ag
Publication of PE20130213A1 publication Critical patent/PE20130213A1/es

Links

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

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Immunology (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Pathology (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Physics & Mathematics (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Urology & Nephrology (AREA)
  • Medicinal Chemistry (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • Tropical Medicine & Parasitology (AREA)
  • General Physics & Mathematics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Investigating Or Analysing Biological Materials (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

SE REFIERE A UN KIT QUE COMPRENDE: A) UN AGENTE PARA MEDIR LA TRANSCRIPCION DE ARNm DE RETARDO MENTAL X FRAGIL 1 (FMR1), LOS NIVELES DE PROTEINA DE FMR1 O LA METILACION DE UNA REGION DEL GEN FMR1 TAL COMO i) UNA ENZIMA DE RESTRICCION QUE SOLO DISOCIA EL ADN METILADO, ii) UNA ENZIMA DE RESTRICCION QUE SOLO DISOCIA EL ADN NO METILADO, iii) UN CEBADOR DE ACUERDO CON LA SEQ ID Nº 4, Y iv) UN CEBADOR DE ACUERDO CON LA SEQ ID Nº 5; B) MUESTRAS DE CONTROL; Y C) INSTRUCCIONES PARA SU USO. DICHO KIT DETECTA EL ESTADO DE METILACION DE LA REGION DEL GEN DE RETARDO MENTAL X FRAGIL 1 (FMR1), LA EXPRESION DEL ARNm DE RETARDO MENTAL X FRAGIL 1 (FMR1) O LOS NIVELES DE PROTEINA DE FMR1 EN UNA MUESTRA DE PRUEBA
PE2012002106A 2010-04-30 2011-04-28 Marcadores predictivos utiles en el tratamiento del sindrome fragil x (fxs) PE20130213A1 (es)

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
PE20130213A1 true PE20130213A1 (es) 2013-03-19

Family

ID=44121075

Family Applications (1)

Application Number Title Priority Date Filing Date
PE2012002106A PE20130213A1 (es) 2010-04-30 2011-04-28 Marcadores predictivos utiles en el tratamiento del sindrome fragil x (fxs)

Country Status (21)

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)
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 (19)

* Cited by examiner, † Cited by third party
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
LT3590949T (lt) 2010-10-01 2022-07-25 Modernatx, Inc. Ribonukleorūgštys, kurių sudėtyje yra n1-metil-pseudouracilų, ir jų naudojimas
US20130274294A1 (en) * 2010-12-20 2013-10-17 David Carcache 4-(Hetero)Aryl-Ethynyl-Octahydro-Indole-1-Esters
JP2014511687A (ja) 2011-03-31 2014-05-19 モデルナ セラピューティクス インコーポレイテッド 工学操作された核酸の送達および製剤
US9464124B2 (en) 2011-09-12 2016-10-11 Moderna Therapeutics, Inc. Engineered nucleic acids and methods of use thereof
MX354267B (es) 2011-10-03 2018-02-21 Moderna Therapeutics Inc Star Nucléosidos, nucleótidos, y ácidos nucleicos modificados, y usos de los mismos.
US20130156849A1 (en) 2011-12-16 2013-06-20 modeRNA Therapeutics 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)
US9572897B2 (en) 2012-04-02 2017-02-21 Modernatx, Inc. Modified polynucleotides for the production of cytoplasmic and cytoskeletal proteins
CA2868996A1 (en) 2012-04-02 2013-10-10 Moderna Therapeutics, Inc. Modified polynucleotides for the production of proteins
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
HRP20220607T1 (hr) 2012-11-26 2022-06-24 Modernatx, Inc. Terminalno modificirana rna
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
EA201690675A1 (ru) 2013-10-03 2016-08-31 Модерна Терапьютикс, Инк. Полинуклеотиды, кодирующие рецептор липопротеинов низкой плотности
US10634677B2 (en) 2013-10-14 2020-04-28 Indiana University Research And Technology Corporation Use of acamprosate to modulate ERK1/2 activation in animal models for FXS and ASD and individuals diagnosed with FXS and 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

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
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
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
RU2352568C9 (ru) 2002-08-09 2009-06-27 Астразенека Аб [1,2,4]оксадиазолы (варианты), способ их получения, фармацевтическая композиция и способ ингибирования активации метаботропных глютаматных рецепторов-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
WO2007044780A2 (en) * 2005-10-07 2007-04-19 Emory University 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
CN102171573A (zh) 2008-08-04 2011-08-31 诺瓦提斯公司 用于polyq蛋白的生物测定试验
US20100248239A1 (en) * 2009-03-24 2010-09-30 Mayo Foundation For Medical Education And Research Methods and materials for detecting fragile x mutations

Also Published As

Publication number Publication date
RU2012151273A (ru) 2014-06-10
CA2797854A1 (en) 2011-11-03
CL2012003027A1 (es) 2014-02-14
WO2011137206A1 (en) 2011-11-03
US20130052644A1 (en) 2013-02-28
IL222534A0 (en) 2012-12-31
SG184458A1 (en) 2012-11-29
MX2012012615A (es) 2012-12-17
AU2011245372A1 (en) 2012-11-29
CN102869791A (zh) 2013-01-09
TN2012000485A1 (en) 2014-04-01
JP2013524840A (ja) 2013-06-20
ECSP12012317A (es) 2013-01-31
BR112012027816A2 (pt) 2017-08-08
KR20130100906A (ko) 2013-09-12
GT201200293A (es) 2014-06-09
TW201142293A (en) 2011-12-01
ZA201207481B (en) 2013-06-26
EP2563934A1 (en) 2013-03-06
MA34263B1 (fr) 2013-05-02

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