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Blood-Based Assay for the Diagnosis and Monitoring of Hyposialylation Disorders

Posted Aug 21 2013 8:00pm

Description of Invention:
Sialic acid, a monosaccharide widely distributed in glycoproteins and glycolipids, plays an important role in biological processes such as cellular adhesion, cellular communication and signal transduction. Reduced levels of sialic acid in tissues (also known as hyposialylation) affect the function of muscle, kidney, and other organ systems, and are found in a number of disorders, such as hereditary inclusion body myopathy (HIBM, also known as GNE myopathy), renal hyposialylation disorders, and congenital disorders of glycosylation.

The inventors have developed a sensitive, reliable assay for the diagnosis of hyposialylation disorders that detects a novel glycoprotein biomarker in a patient blood sample. This assay has been validated using samples from patients with GNE myopathy and other hyposialylation disorders. A distinct advantage of this assay is that it is minimally invasive, unlike many currently-available methods for diagnosing hyposialylation disorders, which typically require a tissue biopsy. In particular, this biomarker represents the first non-invasive method for diagnosis of renal hyposialylation.

  • Diagnostic assay to detect hyposialylation>/li>
  • Monitoring tool to track patient response to sialylation-increasing therapy

  • A blood-based assay based on this technology would be less invasive, time-consuming, and costly than a tissue biopsy, which is the current diagnostic standard for hyposialylation disorders, particularly kidney disorders.

Development Status:
  • Early-stage
  • In vitro data available

Marjan Huizing (NHGRI)
William A Gahl (NHGRI)
Miao He (Emory University School of Medicine)
Xueli Li (Emory University)
Rong Jiang (Emory University)

Patent Status:
HHS, Reference No. E-056-2013/0
US, Application No. 61/785,094 filed 14 Mar 2013

Related Technologies:
US, Patent No. 8,410,063, Issued 02 Apr 2013, Reference No. E-217-2007/0
US, Application No. 13/791,576 filed 08 Mar 2013, Reference No. E-217-2007/0
US, Application No. 13/605,946 filed 06 Sep 2012, Reference No. E-270-2011/0
US, Application No. 60/932,451 filed 31 May 2007, Reference No. E-217-2007/0
US, Application No. 61/531,934 filed 07 Sep 2011, Reference No. E-270-2011/0

For Licensing Information Please Contact:
Tara Kirby Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd. Suite 325,
Rockville, MD 20852
United States
Phone: 301-435-4426
Fax: 301-402-0220

Ref No: 2619

Updated: 08/2013

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