Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome
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.
|Study Design:||Observational Model: Case-Only
Time Perspective: Prospective
|Official Title:||A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome|
- Levels of Total Glycosaminoglycan (GAG) in CSF [ Time Frame: Day 1 ] [ Designated as safety issue: No ]The concentration of total GAG, including heparan sulfate (HS) and dermatan sulfate (DS) oligosaccharides, in CSF was measured using an enzymatic assay.
- Levels of GAG in Urine [ Time Frame: Day 1 ] [ Designated as safety issue: No ]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.
Biospecimen Retention: Samples Without DNA
CSF and urine samples will be retained and analyzed for glycosaminoglycans (GAGs), including sulfated DS/HS oligosaccharides, GAG-degradation products, and other biomarkers of CNS or lysosomal function.
|Study Start Date:||March 2011|
|Study Completion Date:||May 2014|
|Primary Completion Date:||January 2014 (Final data collection date for primary outcome measure)|
Approximately 5 adults (equal to or not less than 18yrs old) and 5 children (equal to or not over 18yrs old)
|Other: No treatment|
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01449240
|United States, Georgia|
|Decatur, Georgia, United States, 30033|
|United States, Illinois|
|Ann & Robert H. Lurie Children's Hospital of Chicago|
|Chicago, Illinois, United States, 60611-2605|
|United States, Minnesota|
|Children's Hospitals and Clinics of Minnesota|
|Minneapolis, Minnesota, United States, 55404|
|United States, North Carolina|
|University of North Carolina, Division of Genetics and Metabolism|
|Chapel Hill, North Carolina, United States, 27599|
|United States, Utah|
|University of Utah School of Medicine|
|Salt Lake City, Utah, United States, 84113|
|Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital|
|Manchester, United Kingdom, M13 9WL|
|Salford Royal NHS Foundation Trust|
|Salford, United Kingdom, M6 8HD|
|Study Director:||Arian Pano, M.D., MPH||Shire Human Genetic Therapies, Inc.|