Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome

Completed

• Conditions: Hunter Syndrome
• Interventions: Other: No treatment

• Registration Number: NCT01449240
• Lead Sponsor: Shire

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 Description

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 Timeline

• Study First Submitted: 2011-10-06
• Study First Submitted QC: 2011-10-07
• Study First Posted: 2011-10-10
• Study Start: 2012-11-12
• Primary Completion: 2013-12-20
• Study Completion: 2013-12-20
• Results First Submitted: 2014-12-01
• Results First Submitted QC: 2014-12-01
• Results First Posted: 2014-12-05
• Status Verified: 2021-05
• Last Update Submitted: 2021-05-24
• Last Update Posted: 2021-06-09

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 10

Inclusion Criteria

• The patient is male and has a documented diagnosis of Hunter syndrome (MPSII).
• The adult patient has completed a cognitive assessment at screening/baseline or within the previous 3 months and has been determined to have an intelligence quotient (IQ) ≥78. Note: cognitive evaluation of pediatric patients is not required.
• The adult patient or the adult patient's legally authorized representative(s) has voluntarily signed an Institutional Review Board/Independent Ethics Committee-approved informed consent form after all relevant aspects of the study have been explained and discussed.
• The pediatric patient must be scheduled to undergo a non-study related lumbar puncture or other medical or diagnostic procedure that requires the administration of general anesthesia. The pediatric patient's parent(s) or legally authorized representative(s) must have provided written informed consent (with patient assent as relevant), after all relevant aspects of the study have been explained and discussed, to allow CSF sample collection for this study in conjunction with performance of the non-study related procedure requiring general anesthesia.

Exclusion Criteria

• The patient has a history of complications from a previous lumbar puncture(s) or technical challenges in conducting lumbar puncture.
• The patient has received a hematopoietic stem cell transplant.
• The patient has taken aspirin, non-steroidal anti-inflammatory drugs (NSAIDs), or other over-the-counter or prescription medications that could affect blood clot formation within the 7 days prior to lumbar puncture, or has ingested such medications within 7 days prior to any study-related procedure in which a change in potential blood clot formation would be deleterious.
• The patient is currently receiving treatment with intrathecal idursulfase-IT.
• The patient is currently enrolled in an interventional clinical trial.
• The patient has participated in a clinical trial of any investigational drug, including idursulfase-IT, or device within the 30 days prior to study entry.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
No treatment	No treatment	Approximately 5 adults (equal to or not less than 18yrs old) and 5 children (equal to or not over 18yrs old)

Primary Outcome Measures

Name	Time	Method
Levels of Total Glycosaminoglycan (GAG) in CSF	Day 1	The concentration of total GAG, including heparan sulfate (HS) and dermatan sulfate (DS) oligosaccharides, in CSF was measured using an enzymatic assay.

Secondary Outcome Measures

Name	Time	Method
Levels of GAG in Urine	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.

Trial Locations

Locations (7)

Salford Royal NHS Foundation Trust; 🇬🇧 Salford, United Kingdom

University of North Carolina, Division of Genetics and Metabolism; 🇺🇸 Chapel Hill, North Carolina, United States

Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital; 🇬🇧 Manchester, United Kingdom

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 Utah School of Medicine; 🇺🇸 Salt Lake City, Utah, United States