HRP20170578T1 - Metoda za dijagnosticiranje mps iiib poremećaja - Google Patents

Metoda za dijagnosticiranje mps iiib poremećaja Download PDF

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HRP20170578T1
HRP20170578T1 HRP20170578TT HRP20170578T HRP20170578T1 HR P20170578 T1 HRP20170578 T1 HR P20170578T1 HR P20170578T T HRP20170578T T HR P20170578TT HR P20170578 T HRP20170578 T HR P20170578T HR P20170578 T1 HRP20170578 T1 HR P20170578T1
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glcnac
glca
biomarker
disorder
biological sample
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HRP20170578TT
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English (en)
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Brett E. Crawford
Jillian R. Brown
Charles A. Glass
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Biomarin Pharmaceutical Inc.
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Publication of HRP20170578T1 publication Critical patent/HRP20170578T1/hr

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/527—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving lyase
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
    • A61B5/00—Measuring for diagnostic purposes; Identification of persons
    • A61B5/48—Other medical applications
    • A61B5/4842—Monitoring progression or stage of a disease
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61B—DIAGNOSIS; SURGERY; IDENTIFICATION
    • A61B5/00—Measuring for diagnostic purposes; Identification of persons
    • A61B5/48—Other medical applications
    • A61B5/4866—Evaluating metabolism
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/70—Carbohydrates; Sugars; Derivatives thereof
    • A61K31/702—Oligosaccharides, i.e. having three to five saccharide radicals attached to each other by glycosidic linkages
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H11/00—Compounds containing saccharide radicals esterified by inorganic acids; Metal salts thereof
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H13/00—Compounds containing saccharide radicals esterified by carbonic acid or derivatives thereof, or by organic acids, e.g. phosphonic acids
    • C07H13/02—Compounds containing saccharide radicals esterified by carbonic acid or derivatives thereof, or by organic acids, e.g. phosphonic acids by carboxylic acids
    • C07H13/04—Compounds containing saccharide radicals esterified by carbonic acid or derivatives thereof, or by organic acids, e.g. phosphonic acids by carboxylic acids having the esterifying carboxyl radicals attached to acyclic carbon atoms
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H3/00—Compounds containing only hydrogen atoms and saccharide radicals having only carbon, hydrogen, and oxygen atoms
    • C07H3/04—Disaccharides
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H3/00—Compounds containing only hydrogen atoms and saccharide radicals having only carbon, hydrogen, and oxygen atoms
    • C07H3/06—Oligosaccharides, i.e. having three to five saccharide radicals attached to each other by glycosidic linkages
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H5/00—Compounds containing saccharide radicals in which the hetero bonds to oxygen have been replaced by the same number of hetero bonds to halogen, nitrogen, sulfur, selenium, or tellurium
    • C07H5/04—Compounds containing saccharide radicals in which the hetero bonds to oxygen have been replaced by the same number of hetero bonds to halogen, nitrogen, sulfur, selenium, or tellurium to nitrogen
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H5/00—Compounds containing saccharide radicals in which the hetero bonds to oxygen have been replaced by the same number of hetero bonds to halogen, nitrogen, sulfur, selenium, or tellurium
    • C07H5/04—Compounds containing saccharide radicals in which the hetero bonds to oxygen have been replaced by the same number of hetero bonds to halogen, nitrogen, sulfur, selenium, or tellurium to nitrogen
    • C07H5/06—Aminosugars
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H7/00—Compounds containing non-saccharide radicals linked to saccharide radicals by a carbon-to-carbon bond
    • C07H7/02—Acyclic radicals
    • C07H7/033—Uronic acids
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/88—Lyases (4.)
    • 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
    • G01N33/66—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving blood sugars, e.g. galactose
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/90—Enzymes; Proenzymes
    • G01N2333/988—Lyases (4.), e.g. aldolases, heparinase, enolases, fumarase
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2400/00—Assays, e.g. immunoassays or enzyme assays, involving carbohydrates
    • G01N2400/10—Polysaccharides, i.e. having more than five saccharide radicals attached to each other by glycosidic linkages; Derivatives thereof, e.g. ethers, esters
    • G01N2400/38—Heteroglycans, i.e. polysaccharides having more than one sugar residue in the main chain in either alternating or less regular sequence, e.g. gluco- or galactomannans, Konjac gum, Locust bean gum or Guar gum
    • G01N2400/40—Glycosaminoglycans, i.e. GAG or mucopolysaccharides, e.g. chondroitin sulfate, dermatan sulfate, hyaluronic acid, heparin, heparan sulfate, and related sulfated polysaccharides
    • 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
    • G01N2800/042—Disorders of carbohydrate metabolism, e.g. diabetes, glucose metabolism
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological 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
    • G01N2800/38—Pediatrics
    • G01N2800/385—Congenital anomalies
    • 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
    • G01N2800/70—Mechanisms involved in disease identification
    • G01N2800/7057—(Intracellular) signaling and trafficking pathways
    • G01N2800/7066—Metabolic pathways
    • G01N2800/7071—Carbohydrate metabolism, e.g. glycolysis, gluconeogenesis

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  • Chemical & Material Sciences (AREA)
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  • Microbiology (AREA)
  • Urology & Nephrology (AREA)
  • Medicinal Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Pathology (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Animal Behavior & Ethology (AREA)
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  • General Engineering & Computer Science (AREA)
  • General Physics & Mathematics (AREA)
  • Food Science & Technology (AREA)
  • Cell Biology (AREA)
  • Diabetes (AREA)
  • Medical Informatics (AREA)
  • Surgery (AREA)
  • Heart & Thoracic Surgery (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Epidemiology (AREA)
  • Obesity (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Saccharide Compounds (AREA)

Claims (8)

1. Postupak za dijagnosticiranje prisutnosti poremećaja mukopolisaharidoze IIIB (MPS IIIB) u pojedinca, postupak obuhvaća sljedeće korake: a) generiranje biomarkera koji sadrži jedan ili više oligosaharida nereducirajućeg kraja, pri čemu je biomarker zasićeni oligosaharid i generiran je tretiranjem pročišćene populacije heparan sulfata izoliranih iz biološkog uzorka pojedinca, liazama koje digestiraju glikozaminoglikane, pri čemu prije tretiranja liazom biomarker nije obilno prisutan u uzorcima pojedinaca s MPS IIIB poremećajem u odnosu na pojedince bez MPS IIIB poremećaja, i b) korištenje analitičkog uređaja za detektiranje prisutnosti i/ili mjere količine nastalog biomarkera i prikazivanje ili bilježenje prisutnosti ili mjere populacije biomarkera, pri čemu je prisutnost i/ili količina biomarkera korištena za određivanje prisutnosti MPS IIIB poremećaja, pri čemu liaze koje digestiraju glikozaminoglikane obuhvaćaju heparin liazu I, heparin liazu II i heparin liazu III, i pri čemu je biomarker odabran između trisaharida u skladu s Formulom V [GlcNAc-IdoA-GlcN(Ac)n](SO3R)p(V) pri čemu je n 0-1 i p je 0-3; trisaharida u skladu s Formulom VI [GlcNAc-GlcA-GlcN(Ac)n](SO3R)p(VI) pri čemu je n 0-1 i p je 0-2; i trisaharida u skladu s Formulom XVI GlcA-GlcNAc-GlcA (XVI)
2. Postupci iz patentnog zahtjeva 1, pri čemu su trisaharidi odabrani između GlcNAc-IdoA-GlcNAc, GlcNAc-IdoA2SGlcNAc, GlcNAc-IdoA-GlcNS, GlcNAc-IdoA2S-GlcNS, GlcNAc-IdoA-GlcNAc6S, GlcNAc-IdoA2S-GlcNAc6S, GlcNAc-IdoA-GlcNS6S, GlcNAc-IdoA2S-GlcNS6S, GlcNAc-GlcA-GlcNAc, GlcNAc-GlcA-GlcNS, GlcNAc-GlcA-GlcNAc6S i GlcNAc-GlcA-GlcNS6S.
3. Postupak iz patentnog zahtjeva 1 ili 2, pri čemu je generiran transformirani biološki uzorak tretiranjem pročišćene populacije heparan sulfata liazama koje digestiraju glikozaminoglikane u koraku a) iz patentnog zahtjeva 1, i postupak nadalje obuhvaća pročišćavanje populacije oligosaharida u transformiranom biološkom uzorku.
4. Postupak iz patentnog zahtjeva 3, pri čemu je populacija oligosaharida pročišćena iz transformiranog biološkog uzorka koristeći kromatografiju ili elektroforezu.
5. Postupak iz patentnog zahtjeva 3 ili 4, pri čemu postupak nadalje obuhvaća označavanje reducirajućeg kraja reprezentativnog udjela oligosaharida u transformiranom biološkom uzorku oznakom koja se može detektirati.
6. Postupak iz patentnog zahtjeva 5, pri čemu je reducirajući kraj oligosaharida u transformiranom biološkom uzorku označen oznakom koja se može detektirati.
7. Postupak iz patentnog zahtjeva 5 ili 6, pri čemu je oznaka koja se može detektirati oznaka mase, radio oznaka, fluorescentna oznaka, kromoforna oznaka ili afinitetna oznaka.
8. Postupak iz bilo kojeg od patentnih zahtjeva 1 do 7, pri čemu je postupak za dijagnosticiranje MPS IIIB kod pojedinca postupak dijagnosticiranja pojedinca kao heterozigotnog prenositelja MPS IIIB poremećaja.
HRP20170578TT 2009-01-02 2017-04-11 Metoda za dijagnosticiranje mps iiib poremećaja HRP20170578T1 (hr)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US14229109P 2009-01-02 2009-01-02
US16436509P 2009-03-27 2009-03-27
US12/649,094 US9029530B2 (en) 2009-01-02 2009-12-29 Detection of oligosaccharides
EP09837207.1A EP2376915B1 (en) 2009-01-02 2009-12-31 Method for diagnosing mps iiib disorder
PCT/US2009/069941 WO2010078511A2 (en) 2009-01-02 2009-12-31 Detection of oligosaccharides

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US (4) US9029530B2 (hr)
EP (2) EP2376915B1 (hr)
CA (2) CA2786111C (hr)
CY (1) CY1118871T1 (hr)
DK (1) DK2376915T3 (hr)
ES (1) ES2623917T3 (hr)
GB (1) GB2468386B (hr)
HR (1) HRP20170578T1 (hr)
LT (1) LT2376915T (hr)
PL (1) PL2376915T3 (hr)
PT (1) PT2376915T (hr)
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CA2786111C (en) 2019-08-06
PL2376915T3 (pl) 2017-08-31
GB2468386A (en) 2010-09-08
SI2376915T1 (sl) 2017-07-31
CA2786111A1 (en) 2010-07-08
DK2376915T3 (en) 2017-05-08
US20180080059A1 (en) 2018-03-22
US9796999B2 (en) 2017-10-24
EP2376915B1 (en) 2017-03-29
EP2376915A4 (en) 2012-09-05
CA3047436A1 (en) 2010-07-08
US20150307915A1 (en) 2015-10-29
US10683530B2 (en) 2020-06-16
ES2623917T3 (es) 2017-07-12
PT2376915T (pt) 2017-05-08
CY1118871T1 (el) 2018-01-10
US20210017570A1 (en) 2021-01-21
EP3232193B1 (en) 2023-03-01
US20100184013A1 (en) 2010-07-22
WO2010078511A3 (en) 2010-10-21
WO2010078511A2 (en) 2010-07-08
US9029530B2 (en) 2015-05-12
GB2468386B (en) 2011-10-26
EP3232193A3 (en) 2017-12-13
GB0922711D0 (en) 2010-02-17
LT2376915T (lt) 2017-06-26
EP3232193A2 (en) 2017-10-18
EP2376915A2 (en) 2011-10-19

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