Method for detecting lysosomal storage diseases
AssigneesSeikagaku Corporation, Saint Louis University
InventorsKazuo Okamura, Shuichi Miyaura, Shunji Tomatsu
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Abstract
A method for detecting lysosomal storage diseases including the steps of performing an assay for a single species of glycosaminoglycan contained in a specimen and correlating results of the assay with lysosomal storage diseases. A body fluid such as urine or blood can be employed as a specimen. The assay can be performed by use of a polypeptide that is capable of specifically binding to a glycosaminoglycan-containing molecule. The polypeptide may be an antibody, or a polypeptide having an antigen-binding site of an antibody.
Claims19
A method for determining the risk of a subject having a lysosomal storage disease comprising:
- detecting the presence of heparan sulfate in a blood sample from a subject suspected of having a lysosomal storage disease that is type IV mucopolysaccharidosis;
- determining a higher risk of the subject having the lysosomal storage disease or diagnosing the subject with the lysosomal storage disease when the level of heparan sulfate detected in the blood sample is elevated compared to a control value of a healthy subject;
- and
- treating the subject at risk of having type IV mucopolysaccharidosis for type IV mucopolysaccharidosis;
- wherein said treating comprises enzyme replacement therapy, genetic treatment and/or a bone marrow transplant to the subject determined to be at risk for having the Type IV mucopolysaccharidosis.
Dependencies are inferred from the claim text.