BR112017009605A2 - método para o diagnóstico da doença de niemann-pick usando um biomarcador - Google Patents

método para o diagnóstico da doença de niemann-pick usando um biomarcador

Info

Publication number
BR112017009605A2
BR112017009605A2 BR112017009605A BR112017009605A BR112017009605A2 BR 112017009605 A2 BR112017009605 A2 BR 112017009605A2 BR 112017009605 A BR112017009605 A BR 112017009605A BR 112017009605 A BR112017009605 A BR 112017009605A BR 112017009605 A2 BR112017009605 A2 BR 112017009605A2
Authority
BR
Brazil
Prior art keywords
biomarker
pick disease
diagnosing niemann
niemann
diagnosing
Prior art date
Application number
BR112017009605A
Other languages
English (en)
Inventor
Rolfs Arndt
Mascher Hermann
Original Assignee
Centogene 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
Application filed by Centogene Ag filed Critical Centogene Ag
Publication of BR112017009605A2 publication Critical patent/BR112017009605A2/pt

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Classifications

    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/92Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving lipids, e.g. cholesterol, lipoproteins, or their receptors
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2405/00Assays, e.g. immunoassays or enzyme assays, involving lipids
    • G01N2405/08Sphingolipids
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2560/00Chemical aspects of mass spectrometric analysis of biological material
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/04Endocrine or metabolic disorders
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/50Determining the risk of developing a disease
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/52Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis

Landscapes

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

Abstract

a presente invenção está relacionada a um método para diagnosticar a doença de niemann-pick em um indivíduo compreendendo uma etapa a), em que a etapa a) compreende detectar um biomarcador em uma amostra do indivíduo, em que o biomarcador é o composto 509.
BR112017009605A 2014-11-19 2015-11-19 método para o diagnóstico da doença de niemann-pick usando um biomarcador BR112017009605A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP14003888 2014-11-19
PCT/EP2015/002313 WO2016078762A1 (en) 2014-11-19 2015-11-19 Method for the diagnosis of niemann-pick disease using a biomarker

Publications (1)

Publication Number Publication Date
BR112017009605A2 true BR112017009605A2 (pt) 2017-12-19

Family

ID=51945677

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112017009605A BR112017009605A2 (pt) 2014-11-19 2015-11-19 método para o diagnóstico da doença de niemann-pick usando um biomarcador

Country Status (8)

Country Link
US (1) US20180348239A1 (pt)
EP (1) EP3221705A1 (pt)
JP (1) JP2017538927A (pt)
AU (1) AU2015349030A1 (pt)
BR (1) BR112017009605A2 (pt)
CA (1) CA2967504A1 (pt)
IL (1) IL251879A0 (pt)
WO (1) WO2016078762A1 (pt)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2021036201A (ja) * 2017-12-18 2021-03-04 国立研究開発法人国立成育医療研究センター ニーマンピック病c型の診断のための検査方法

Family Cites Families (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8497122B2 (en) * 2008-04-11 2013-07-30 Washington University Biomarkers for Niemann-pick C disease and related disorders
EP2780716B1 (en) * 2011-11-15 2019-07-31 Centogene AG Method for the diagnosis of niemann-pick disease
JP6660291B2 (ja) * 2013-05-14 2020-03-11 セントジーン アーゲー ニーマン・ピック病の診断のための方法

Also Published As

Publication number Publication date
WO2016078762A1 (en) 2016-05-26
US20180348239A1 (en) 2018-12-06
JP2017538927A (ja) 2017-12-28
IL251879A0 (en) 2017-06-29
AU2015349030A1 (en) 2017-05-04
EP3221705A1 (en) 2017-09-27
CA2967504A1 (en) 2016-05-26

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Legal Events

Date Code Title Description
B25G Requested change of headquarter approved

Owner name: CENTOGENE AG (DE)

B06U Preliminary requirement: requests with searches performed by other patent offices: procedure suspended [chapter 6.21 patent gazette]
B25D Requested change of name of applicant approved

Owner name: CENTOGENE GMBH (DE)

B08F Application dismissed because of non-payment of annual fees [chapter 8.6 patent gazette]

Free format text: REFERENTE A 6A ANUIDADE.

B08K Patent lapsed as no evidence of payment of the annual fee has been furnished to inpi [chapter 8.11 patent gazette]

Free format text: REFERENTE AO DESPACHO 8.6 DA RPI 2645 DE 14/09/2021.