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

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.

Potential Commercial Applications: Competitive Advantages:
  • Diagnostic assay to detect hyposialylation
  • 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 Stage:
  • Early-stage
  • In vitro data available

Related Invention(s):


Marjan Huizing (NHGRI)  ➽ more inventions...

William Gahl (NHGRI)  ➽ more inventions...

Miao He

Xueli Li

Rong Jiang

Intellectual Property:
U.S. Pat: 9,341,619 issued 2016-05-17
US Application No. 61/785,094
US Application No. 14/208,570
PCT Application No. PCT/US2014/025633

Licensing Contact:
Anna Solowiej,
Phone: 301-435-7791

OTT Reference No: E-056-2013-0
Updated: Jun 11, 2019