Clinical Trial: Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome

Brief Summary: 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.

Detailed Summary: 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.
Sponsor: Shire

Current Primary Outcome: Levels of Total Glycosaminoglycan (GAG) in CSF [ Time Frame: Day 1 ]

The concentration of total GAG, including heparan sulfate (HS) and dermatan sulfate (DS) oligosaccharides, in CSF was measured using an enzymatic assay.


Original Primary Outcome: Levels of Glycosaminoglycan (GAG) and other biomarkers of lysosomal function levels in CSF [ Time Frame: GAG and biomarkers assessed on study Day 1 ]

GAGs including sulfated DS/HS oligosaccharides and GAG degradation products


Current Secondary Outcome: Levels of GAG in Urine [ Time Frame: Day 1 ]

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.


Original Secondary Outcome: Levels of Glycosaminoglycan (GAG) and other biomarkers of lysosomal function levels in urine [ Time Frame: GAG and other biomarkers assessed on study Day 1 ]

GAGs including sulfated DS/HS oligosaccarides and GAG degradation products


Information By: Shire

Dates:
Date Received: October 6, 2011
Date Started: March 2011
Date Completion:
Last Updated: October 6, 2015
Last Verified: March 2014