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Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01449240
Recruitment Status : Completed
First Posted : October 10, 2011
Results First Posted : December 5, 2014
Last Update Posted : October 28, 2015
Information provided by (Responsible Party):

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.

Condition or disease Intervention/treatment
Hunter Syndrome Other: No treatment

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.

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Study Type : Observational
Actual Enrollment : 10 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome
Study Start Date : March 2011
Actual Primary Completion Date : January 2014
Actual Study Completion Date : May 2014

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

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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.

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.

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 70 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The study population will consist of pediatric (<18 years of age) and adult (≥18 years of age) male patients with Hunter syndrome. Up to approximately 60 patients (approximately 30 adults and 30 children) may be enrolled in this study.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01449240

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United States, Georgia
Emory University
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
United Kingdom
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
Sponsors and Collaborators
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Study Director: Arian Pano, M.D., MPH Shire Human Genetic Therapies, Inc.

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Responsible Party: Shire Identifier: NCT01449240     History of Changes
Other Study ID Numbers: HGT-HIT-072
First Posted: October 10, 2011    Key Record Dates
Results First Posted: December 5, 2014
Last Update Posted: October 28, 2015
Last Verified: March 2014

Keywords provided by Shire:
Hunter syndrome
Mucopolysaccharidosis II
Iduronate 2-Sulfatase Deficiency
Lumbar puncture
Cerebrospinal fluid (CSF)

Additional relevant MeSH terms:
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Mucopolysaccharidosis II
Pathologic Processes
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases