Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome

This study is ongoing, but not recruiting participants.
Sponsor:
Information provided by (Responsible Party):
Shire
ClinicalTrials.gov Identifier:
NCT01449240
First received: October 6, 2011
Last updated: March 6, 2014
Last verified: March 2014
  Purpose

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 Intervention
Hunter Syndrome
Other: No treatment

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome

Resource links provided by NLM:


Further study details as provided by Shire:

Primary Outcome Measures:
  • Levels of Glycosaminoglycan (GAG) and other biomarkers of lysosomal function levels in CSF [ Time Frame: GAG and biomarkers assessed on study Day 1 ] [ Designated as safety issue: No ]
    GAGs including sulfated DS/HS oligosaccharides and GAG degradation products


Secondary Outcome Measures:
  • Levels of Glycosaminoglycan (GAG) and other biomarkers of lysosomal function levels in urine [ Time Frame: GAG and other biomarkers assessed on study Day 1 ] [ Designated as safety issue: No ]
    GAGs including sulfated DS/HS oligosaccharides and GAG degradation products


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.


Estimated Enrollment: 10
Study Start Date: March 2011
Estimated Study Completion Date: March 2014
Primary Completion Date: January 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

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.

  Eligibility

Ages Eligible for Study:   up to 70 Years
Genders 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.

Criteria

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01449240

Locations
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
Shire
Investigators
Study Director: Arian Pano, M.D., MPH Shire Human Genetic Therapies, Inc.
  More Information

Publications:
Responsible Party: Shire
ClinicalTrials.gov Identifier: NCT01449240     History of Changes
Other Study ID Numbers: HGT-HIT-072
Study First Received: October 6, 2011
Last Updated: March 6, 2014
Health Authority: United States: Institutional Review Board
United Kingdom: Medicines and Healthcare Products Regulatory Agency

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

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

ClinicalTrials.gov processed this record on July 22, 2014