BR112017027304A2 - método para o diagnóstico de doença de farber - Google Patents

método para o diagnóstico de doença de farber

Info

Publication number
BR112017027304A2
BR112017027304A2 BR112017027304A BR112017027304A BR112017027304A2 BR 112017027304 A2 BR112017027304 A2 BR 112017027304A2 BR 112017027304 A BR112017027304 A BR 112017027304A BR 112017027304 A BR112017027304 A BR 112017027304A BR 112017027304 A2 BR112017027304 A2 BR 112017027304A2
Authority
BR
Brazil
Prior art keywords
disease
farber
diagnosis
individual
ceramide
Prior art date
Application number
BR112017027304A
Other languages
English (en)
Inventor
Rolfs Arndt
Cozma Claudia
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 BR112017027304A2 publication Critical patent/BR112017027304A2/pt

Links

Classifications

    • 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
    • G01N33/92—Chemical 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • A61K48/005—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy characterised by an aspect of the 'active' part of the composition delivered, i.e. the nucleic acid delivered
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00—Drugs for disorders of the metabolism
    • 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
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6803—General methods of protein analysis not limited to specific proteins or families of proteins
    • G01N33/6848—Methods of protein analysis involving mass spectrometry
    • G01N33/6851—Methods of protein analysis involving laser desorption ionisation mass spectrometry
    • 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
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y305/00—Hydrolases acting on carbon-nitrogen bonds, other than peptide bonds (3.5)
    • C12Y305/01—Hydrolases acting on carbon-nitrogen bonds, other than peptide bonds (3.5) in linear amides (3.5.1)
    • C12Y305/01023—Ceramidase (3.5.1.23)
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2405/00—Assays, e.g. immunoassays or enzyme assays, involving lipids
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/04—Endocrine or metabolic disorders
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/52—Predicting or monitoring the response to treatment, e.g. for selection of therapy based on assay results in personalised medicine; Prognosis
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/60—Complex ways of combining multiple protein biomarkers for diagnosis

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Molecular Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Hematology (AREA)
  • Biomedical Technology (AREA)
  • Immunology (AREA)
  • Urology & Nephrology (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Biotechnology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Microbiology (AREA)
  • Analytical Chemistry (AREA)
  • Biochemistry (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Endocrinology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Obesity (AREA)
  • Diabetes (AREA)
  • Organic Chemistry (AREA)
  • Optics & Photonics (AREA)
  • Genetics & Genomics (AREA)
  • Epidemiology (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

a presente invenção está relacionada a um método para o diagnóstico da doença de farber em um indivíduo, em que o método compreende a detecção de c26 ceramida em uma amostra do indivíduo.
BR112017027304A 2015-07-08 2016-07-08 método para o diagnóstico de doença de farber BR112017027304A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP15002041.0A EP3115786A1 (en) 2015-07-08 2015-07-08 Method for the diagnosis of farber's disease
PCT/EP2016/001182 WO2017005374A1 (en) 2015-07-08 2016-07-08 Method for the diagnosis of farber's disease

Publications (1)

Publication Number Publication Date
BR112017027304A2 true BR112017027304A2 (pt) 2018-09-04

Family

ID=53673711

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112017027304A BR112017027304A2 (pt) 2015-07-08 2016-07-08 método para o diagnóstico de doença de farber

Country Status (8)

Country Link
US (1) US11204357B2 (pt)
EP (2) EP3115786A1 (pt)
CN (1) CN109348728A (pt)
AU (1) AU2016290904A1 (pt)
BR (1) BR112017027304A2 (pt)
CA (1) CA2991345A1 (pt)
MX (1) MX2018000189A (pt)
WO (1) WO2017005374A1 (pt)

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
BR112020016435A2 (pt) * 2018-03-27 2020-12-15 Enzyvant Therapeutics Gmbh Marcadores de doença de farber e usos dos mesmos
WO2023232942A1 (en) * 2022-06-01 2023-12-07 Universiteit Antwerpen Method for detecting lysosomal storage disease biomarkers and kits for performing the method

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP1945819B1 (en) * 2005-11-12 2013-03-20 Siemens Healthcare Diagnostics Inc. Gene expression profiles and methods of use

Also Published As

Publication number Publication date
US20180203024A1 (en) 2018-07-19
AU2016290904A1 (en) 2018-01-04
US11204357B2 (en) 2021-12-21
EP3115786A1 (en) 2017-01-11
MX2018000189A (es) 2018-08-01
EP3320344A1 (en) 2018-05-16
CA2991345A1 (en) 2017-01-12
WO2017005374A1 (en) 2017-01-12
CN109348728A (zh) 2019-02-15

Similar Documents

Publication Publication Date Title
BR112016010975A2 (pt) método e aparelho para identificar um dispositivo de iot físico
BR112018010211A2 (pt) formulação farmacêutica aquosa compreendendo anticorpo anti-pd-l1 avelumab
BR112017023872A2 (pt) anticorpos anti-cd166, anticorpos anti-cd166 ativáveis e métodos de uso dos mesmos
BR112016024494A2 (pt) análogos de peptídeo com sonda(s) de aminoácidos ramificados
CL2014001930A1 (es) Formulacion farmacéutica que comprende un anticuerpo angiopoyetina 2 (anti-ang2).
BR112014031365A2 (pt) métodos de detectar doenças ou condições
AR088083A1 (es) USO DE ANTICUERPOS DE UNION A IL-1b
BR112015032507A2 (pt) método para derivar pontuação de fadiga, dispositivo de detecção de sonolência e elemento de programa de computador
BR112015025407A2 (pt) método e dispositivo para testar um transformador
BR112014009223A2 (pt) método para o diagnóstico da doença de niemann-pick
BR112017025995A2 (pt) inibidor de igfbp3, composição farmacêutica para uso no tratamento e/ou prevenção de um distúrbio intestinal, método para o diagnóstico de um distúrbio intestinal em um indivíduo e kit para o diagnóstico de um distúrbio intestinal
WO2015013508A3 (en) Methods for diagnosing and treating immune disease
BR102012002812A8 (pt) método para determinar a influência de uma variável em um fenômeno
WO2015034886A3 (en) Wellness panel for companion animals
BR112016002668A2 (pt) métodos e kits para prognosticar o risco de ter uma doença ou evento cardiovasculares
EP3285071A4 (en) Biomarker composition for diagnosing still's disease, diagnostic kit, and diagnostic method
EA201591742A1 (ru) Способ улучшения диагностики заболеваний с использованием измеряемых аналитов
BR112017019841A2 (pt) técnica de análise de amostra de tecido
BR112015019278A2 (pt) processo de elastografia multi-impulsional
BR112015024860A2 (pt) vacinas que compreendem polipeptídeos de leishmania para o tratamento e diagnóstico de leishmaniose
BR112016019588A2 (pt) produto de ativação de mmp-8, e, método de determinação da ativação da mmp-8 em uma amostra
WO2018199530A3 (ko) 대사체 분석을 이용한 베체트병의 진단방법
BR112019024661A2 (pt) Isolamento de células de origem epitelial circulantes no sangue periférico
BR112015022513A2 (pt) produto e método para tratamento de diarreia
BR112016014071A2 (pt) Método de caracterização de uma peça

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 7A 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: EM VIRTUDE DO ARQUIVAMENTO PUBLICADO NA RPI 2730 DE 02-05-2023 E CONSIDERANDO AUSENCIA DE MANIFESTACAO DENTRO DOS PRAZOS LEGAIS, INFORMO QUE CABE SER MANTIDO O ARQUIVAMENTO DO PEDIDO DE PATENTE, CONFORME O DISPOSTO NO ARTIGO 12, DA RESOLUCAO 113/2013.