Oligosaccharide biomarkers for mucopolysaccharidoses and...

G - Physics – 01 – N

Patent

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G01N 33/48 (2006.01) G01N 33/66 (2006.01)

Patent

CA 2488811

The present invention is related to methods for diagnosing mucopolysaccharidoses ("MPS") and related diseases. This invention pertains to methods for identifying and quantitating biochemical markers ("biomarkers") that are present in biological fluids or tissues of a patient having a MPS or related disorder. One aspect of the method comprises determining a target quantity of a target MPS biomarker oligosaccharide from a target biological sample taken from the target animal, and then comparing the target quantity to a reference quantity of a reference MPS biomarker oligosaccharide for the diagnosis, characterization, monitoring , and clinical management of MPS and related disease. This invention also describes a kit comprising a oligosaccharide derivatization solution; an acid solution; an internal standard; a solid phase extraction column; a solid phase extraction column wash solution; an oligosaccharide elution solution; and a set of instructions for using the kit to diagnose a MPS or related disease.

L'invention concerne des procédés de diagnostic de la mucopolysaccharidose (<= MPS >=) et des maladies associées. L'invention concerne également des procédés d'identification et d'analyse quantitative des marqueurs biochimiques (<= biomarqueurs >=) présents dans les liquides ou les tissus biologiques d'un patient souffrant d'une MPS ou d'un trouble associé. Selon un aspect de l'invention, on détermine la quantité cible d'un oligosaccharide biomarqueur de MPS cible à partir d'un échantillon biologique cible prélevé chez un animal cible, puis on compare la quantité cible à une quantité référence d'un oligosaccharide biomarqueur de MPS cible pour diagnostiquer, caractériser, surveiller, et gérer cliniquement la MPS et les maladies associées. L'invention concerne, de plus, un kit comprenant une solution de dérivatisation d'oligosaccharides ; une solution acide ; un étalon interne ; une colonne d'extraction en phase solide ; une solution de lavage de la colonne d'extraction en phase solide ; une solution d'élution d'oligosaccharides ; et un ensemble d'instructions pour utiliser le kit pour le diagnostic d'une MPS ou d'une maladie associée.

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