Diagnostic methods for pompe disease and other glycogen...

Details Diagnostic methods for pompe disease and other glycogen... Diagnostic methods for pompe disease and other glycogen...

G - Physics

01

N

G01N 33/50 (2006.01) G01N 33/66 (2006.01)

Patent

CA 2409989

Provided are methods of screening subjects for lysosomal storage diseases, preferably glycogen storage diseases, using a tetrasaccharide as a biomarker. In a more preferred embodiment, subjects are screened for Pompe disease (i.e., glycogen storage disease type II). Also provided are neonatal screening assays. The present invention further provides methods of monitoring the clinical condition and efficacy of therapeutic treatment in affected subjects. Further provided are methods of measuring a tetrasaccharide biomarker by tandem mass spectrometry, preferably, as part of a neonatal screening assay for Pompe disease.

L'invention concerne des procédés de criblage de sujets afin de rechercher des maladies de stockage lysosomique, de préférence, des maladies de stockage du glycogène, au moyen d'un tétrasaccharide en tant que biomarqueur. Dans un mode de réalisation préféré, on crible des sujets afin de rechercher la maladie de Pompe (par exemple, maladie de stockage du glycogène de type II). Elle concerne également des essais de criblage néonatal. Elle concerne, de plus, des procédés de contrôle de l'état clinique et de l'efficacité du traitement thérapeutique chez des sujets atteints. Elle concerne également des procédés de mesure d'un biomarqueur de tétrasaccharide par spectrométrie de masse en tandem, de préférence, en tant que partie d'un essai de criblage néonatal servant à rechercher la maladie de Pompe.

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