The purpose of the study is to collect data on CSF biomarkers in patients with Hunter Syndrome that would serve as reference data for comparison with cognitively impaired patients with Hunter syndrome, patients with other lysosomal storage diseases, or other diseases with CNS involvement.
To determine levels of glycosaminoglycans (GAGs), including dermatan sulfate (DS) and heparan sulfate (HS), GAG-degradation products, and other biomarkers of central nervous system (CNS) and lysosomal function in cerebrospinal fluid (CSF) in pediatric and adult patients with Hunter syndrome.
Study Type
OBSERVATIONAL
Enrollment
10
Emory University
Decatur, Georgia, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
Children's Hospitals and Clinics of Minnesota
Minneapolis, Minnesota, United States
University of North Carolina, Division of Genetics and Metabolism
Levels of Total Glycosaminoglycan (GAG) in CSF
The concentration of total GAG, including heparan sulfate (HS) and dermatan sulfate (DS) oligosaccharides, in CSF was measured using an enzymatic assay.
Time frame: Day 1
Levels of GAG in Urine
The levels of GAG (including sulfated DS/HS oligosaccharides) in urine were determined by the Blyscan sulfated GAG assay kit. The concentration of GAG in urine was normalized to the urine creatinine value and reported as mg GAG/mmol creatinine.
Time frame: Day 1
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Chapel Hill, North Carolina, United States
University of Utah School of Medicine
Salt Lake City, Utah, United States
Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital
Manchester, United Kingdom
Salford Royal NHS Foundation Trust
Salford, United Kingdom