Clinical Trial: Biomarker for Sanfilippo Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Biomarker for Sanfilippo Disease - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Brief Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Sanfilippo Type A-B-C-D disease from plasma and saliva. Testing for clinical robustness, specificity and long-term stability of the biomarker.

Detailed Summary:

The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. High concentrations of mucopolysaccharides in the cells of the central nervous system, including the brain, cause the neurological and developmental deficits that accompany these disorders. Lysosomal enzymes are found in the lysosome, a very small membrane-contained body (or-ganelle) found in the cytoplasm of most cells. The lysosome is often called the "waste dis-posal plant" of the cell. The accumulation of these large, undegraded mucopolysaccharides in the cells of the body is the cause of a number of physical symptoms and abnormalities. MPS-III (Sanfilippo Syndrome) is one of seven MPS Disorders. It is an inborn error of metab-olism that is transmitted as an autosomal recessive genetic disorder. MPS-lll has been cate-gorized into four subtypes: MPS-III Type A, MPS-III Type B, MPS-III Type C, and MPS-III Type D depending on the gene defect (MPS3A - SGSH gene, MPS3B - NAGLU gene, MPS3C - HGSNAT, MPS3D - GNS gene). All types are associated with some degree of mental deterioration, but the severity depends on the particular type of MPS-lll. Several phys-ical defects may be present, and the severity of these defects varies with the type of MPS-III. In the case of each type of MPS-III, abnormal amounts of a specific, chemically complex molecule is excreted in the urine. The excreted chemical is the same for each of the four types of MPS-III, since the defective gene involves a different step, and thus a different en-zyme, in the deconstruction of the same mucopolysaccharide. By testing for one or another of these enzymes, the variant type may be readily identified.

Symptoms Patients with Sanfilippo Syndrome (MPS Type III)
Sponsor: University of Rostock

Current Primary Outcome: Development of a new MS-based biomarker for the early and sensitive diagnosis of Sanfilippo Type A-B-C-D disease from plasma and saliva [ Time Frame: 36 months ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Testing for clinical robustness, specificity and long-term stability of the biomarker [ Time Frame: 36 months ]

Original Secondary Outcome: Same as current

Information By: University of Rostock

Dates:
Date Received: October 23, 2014
Date Started: November 2014
Date Completion: December 2017
Last Updated: October 13, 2016
Last Verified: October 2016