CA2967504A1 - Method for the diagnosis of niemann-pick disease using a biomarker - Google Patents

Method for the diagnosis of niemann-pick disease using a biomarker Download PDF

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Publication number
CA2967504A1
CA2967504A1 CA2967504A CA2967504A CA2967504A1 CA 2967504 A1 CA2967504 A1 CA 2967504A1 CA 2967504 A CA2967504 A CA 2967504A CA 2967504 A CA2967504 A CA 2967504A CA 2967504 A1 CA2967504 A1 CA 2967504A1
Authority
CA
Canada
Prior art keywords
niemann
biomarker
subject
pick disease
sample
Prior art date
Legal status (The legal status 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 status listed.)
Abandoned
Application number
CA2967504A
Other languages
English (en)
French (fr)
Inventor
Arndt Rolfs
Hermann Mascher
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Centogene GmbH
Original Assignee
Centogene GmbH
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 GmbH filed Critical Centogene GmbH
Publication of CA2967504A1 publication Critical patent/CA2967504A1/en
Abandoned legal-status Critical Current

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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)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Endocrinology (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • General Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (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)
CA2967504A 2014-11-19 2015-11-19 Method for the diagnosis of niemann-pick disease using a biomarker Abandoned CA2967504A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP14003888 2014-11-19
EP14003888.6 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
CA2967504A1 true CA2967504A1 (en) 2016-05-26

Family

ID=51945677

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2967504A Abandoned CA2967504A1 (en) 2014-11-19 2015-11-19 Method for the diagnosis of niemann-pick disease using a biomarker

Country Status (8)

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

Families Citing this family (2)

* 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
US20220025065A1 (en) * 2018-12-10 2022-01-27 Denali Therapeutics Inc. Lysosomal storage disorder biomarkers and methods of use thereof

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
JP6243846B2 (ja) * 2011-11-15 2017-12-06 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
WO2014183873A1 (en) * 2013-05-14 2014-11-20 Centogene Ag Method for the diagnosis of niemann-pick disease

Also Published As

Publication number Publication date
JP2017538927A (ja) 2017-12-28
BR112017009605A2 (pt) 2017-12-19
AU2015349030A1 (en) 2017-05-04
US20180348239A1 (en) 2018-12-06
IL251879A0 (en) 2017-06-29
EP3221705A1 (en) 2017-09-27
WO2016078762A1 (en) 2016-05-26

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Legal Events

Date Code Title Description
FZDE Discontinued

Effective date: 20220210

FZDE Discontinued

Effective date: 20220210