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
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 (da)
EP (1) EP2997384B1 (da)
JP (2) JP6660291B2 (da)
CA (1) CA2912274A1 (da)
CY (1) CY1121790T1 (da)
DK (1) DK2997384T3 (da)
ES (1) ES2731920T3 (da)
SA (1) SA515370129B1 (da)
TR (1) TR201906195T4 (da)
WO (1) WO2014183873A1 (da)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
SG10201709925SA (en) * 2013-06-07 2017-12-28 Genzyme Corp Marker for acid sphingomyelinase disorders and uses thereof
CA2967504A1 (en) * 2014-11-19 2016-05-26 Centogene Ag Method for the diagnosis of niemann-pick disease using a biomarker

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
CA2524272A1 (en) * 2003-03-31 2004-10-14 Women's And Children's Hospital Multiplex screening for lysosomal storage disorders (lsds)
BRPI0416434A (pt) * 2003-11-25 2007-02-21 Sinai School Medicine métodos para aumentar a atividade de uma proteìna de ácido esfingomielinase (asm), para estender a meia-vida e prolongar a atividade de uma proteìna asm purificada, para aumentar a produção de uma proteìna asm recombinante através de uma célula hospedeira, e usos de uma composição de asm tipo alelo-selvagem, purificada e um composto análogo de ceramida ou esfingomielina, e de um composto análogo de ceramida ou de esfingomielina
KR20090006837A (ko) * 2006-03-24 2009-01-15 페노미넘 디스커버리스 인코포레이티드 전립선 암 진단용 생물표지자 및 그의 제조방법
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
IL300625A (en) * 2009-08-28 2023-04-01 Icahn School Med Mount Sinai Increasing dose replacement enzyme for the treatment of acid sphingomyelinase deficiency

Also Published As

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

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