DK2997384T3 - Fremgangsmåde til diagnose af niemann-pick sygdom - Google Patents

Fremgangsmåde til diagnose af niemann-pick sygdom Download PDF

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Publication number
DK2997384T3
DK2997384T3 DK14724315.8T DK14724315T DK2997384T3 DK 2997384 T3 DK2997384 T3 DK 2997384T3 DK 14724315 T DK14724315 T DK 14724315T DK 2997384 T3 DK2997384 T3 DK 2997384T3
Authority
DK
Denmark
Prior art keywords
niemann
diagnosis
procedure
pick disease
pick
Prior art date
Application number
DK14724315.8T
Other languages
Danish (da)
English (en)
Inventor
Arndt Rolfs
Hermann Mascher
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
Application granted granted Critical
Publication of DK2997384T3 publication Critical patent/DK2997384T3/da

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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
    • HELECTRICITY
    • H01ELECTRIC ELEMENTS
    • H01JELECTRIC DISCHARGE TUBES OR DISCHARGE LAMPS
    • H01J49/00Particle spectrometers or separator tubes
    • H01J49/0027Methods for using particle spectrometers
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2405/00Assays, e.g. immunoassays or enzyme assays, involving lipids
    • G01N2405/04Phospholipids, i.e. phosphoglycerides
    • 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
    • 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
    • G01N2800/52Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Urology & Nephrology (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Hematology (AREA)
  • Analytical Chemistry (AREA)
  • Food Science & Technology (AREA)
  • Biotechnology (AREA)
  • Endocrinology (AREA)
  • Biophysics (AREA)
  • Cell Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (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)
DK14724315.8T 2013-05-14 2014-05-14 Fremgangsmåde til diagnose af niemann-pick sygdom DK2997384T3 (da)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP13002515 2013-05-14
PCT/EP2014/001306 WO2014183873A1 (en) 2013-05-14 2014-05-14 Method for the diagnosis of niemann-pick disease

Publications (1)

Publication Number Publication Date
DK2997384T3 true DK2997384T3 (da) 2019-07-22

Family

ID=48428310

Family Applications (1)

Application Number Title Priority Date Filing Date
DK14724315.8T DK2997384T3 (da) 2013-05-14 2014-05-14 Fremgangsmåde til diagnose af niemann-pick sygdom

Country Status (10)

Country Link
US (1) US10302664B2 (https=)
EP (1) EP2997384B1 (https=)
JP (2) JP6660291B2 (https=)
CA (1) CA2912274A1 (https=)
CY (1) CY1121790T1 (https=)
DK (1) DK2997384T3 (https=)
ES (1) ES2731920T3 (https=)
SA (1) SA515370129B1 (https=)
TR (1) TR201906195T4 (https=)
WO (1) WO2014183873A1 (https=)

Families Citing this family (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
LT3004896T (lt) * 2013-06-07 2020-01-10 Genzyme Corporation Rūgštinės sfingomielinazės sutrikimų žymuo ir jo panaudojimas
CA2967504A1 (en) * 2014-11-19 2016-05-26 Centogene Ag Method for the diagnosis of niemann-pick disease using a biomarker
WO2020010305A1 (en) 2018-07-05 2020-01-09 The Board Of Regents Of The University Of Oklahoma Gene signatures for cancer characterization and methods of use
EP3976218B1 (en) * 2019-05-31 2025-02-19 Genzyme Corporation Two-dimensional lc-ms/ms systems

Family Cites Families (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB9908190D0 (en) * 1999-04-09 1999-06-02 Pharming Intellectual Pty Bv Diagnosis of lysosomal storage disorders using saposins and other markers
GB0128498D0 (en) * 2001-11-28 2002-01-23 Inst Of Child Health International standards for sphingolipids
ATE550664T1 (de) * 2003-03-31 2012-04-15 Womens & Childrens Hospital Multiplex-screening auf lysosomale speicherkrankheiten (lsds)
JP2007514661A (ja) * 2003-11-25 2007-06-07 マウント シナイ スクール オブ メディスン オブ ニューヨーク ユニバーシティー ニーマンピック病のシャペロンに基づく治療方法
CN101454331A (zh) * 2006-03-24 2009-06-10 菲诺梅诺米发现公司 有效用于诊断前列腺癌的生物标记,及其方法
US8497122B2 (en) * 2008-04-11 2013-07-30 Washington University Biomarkers for Niemann-pick C disease and related disorders
US8313949B2 (en) * 2009-04-16 2012-11-20 Nextcea Inc. Detecting phospholipidosis and diagnosing lysosomal storage disorders
SI3998078T1 (sl) * 2009-08-28 2026-02-27 Genzyme Corporation Encimsko nadomestno zdravljenje z naraščajočim odmerkom za zdravljenje pomanjkanja kisle sfingomielinaze

Also Published As

Publication number Publication date
SA515370129B1 (ar) 2019-11-18
WO2014183873A1 (en) 2014-11-20
EP2997384B1 (en) 2019-04-10
JP2016522406A (ja) 2016-07-28
JP6660291B2 (ja) 2020-03-11
CA2912274A1 (en) 2014-11-20
US10302664B2 (en) 2019-05-28
CY1121790T1 (el) 2020-07-31
JP6989636B2 (ja) 2022-01-05
ES2731920T3 (es) 2019-11-19
EP2997384A1 (en) 2016-03-23
JP2020101554A (ja) 2020-07-02
US20160109470A1 (en) 2016-04-21
TR201906195T4 (tr) 2019-05-21

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