Compounds and methods for the detection of fabry disease
AssigneeJulius-Maximilians-UniversitäT WüRzburg
InventorNurcan ÜÇEYLER
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Abstract
The present invention provides for compounds and methods for the detection and follow-up of Fabry disease (FD). In particular, the present invention relates to a method for detecting or diagnosing FD in a subject, comprising detecting globotriaosylceramide (Gb3) deposits in biomaterial obtained from said subject. The present invention also provides for a method for treatment monitoring of FD in a subject. Further, the present invention relates to the use of a Gb3-specific natural ligand for the detection of Gb3 deposits in biomaterial. Also provided is a kit for detecting Gb3 deposits in biomaterial obtained from a subject.
Claims32
A method for detecting or diagnosing Fabry disease (FD) in a subject, comprising detecting globotriaosylceramide (Gb3) deposits in biomaterial obtained from said subject, wherein said biomaterial is selected from the group consisting of (i) blood smear prepared from whole blood, (ii) peripheral blood mononuclear cells (PBMCs), and (iii) epithelial cells.
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A method for treatment monitoring of Fabry disease (FD) in a patient, comprising comparing the amount of globotriaosylceramide (Gb3) deposits positive cells detected in biomaterial obtained from said patient to the amount of Gb3 deposits positive cells detected in biomaterial obtained from said patient at an earlier date, wherein said biomaterial is one of (i) blood smear prepared from whole blood (ii) peripheral blood mononuclear cells (PBMCs) and (iii) epithelial cells, wherein the comparison provides an evaluation of effect of FD treatment.
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A kit comprising:
- a) a first solid support for depositing biomaterial, and
- b) a Gb3-binding agent or a reagent metabolizing Gb3 to a Gb3 metabolic product allowing for detection of Gb3 deposits in said biomaterial.
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Dependencies are inferred from the claim text.