Clinical trial NCT01449240: Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome
Official title: A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hunter Syndrome
Keywords: Hunter syndrome
Mucopolysaccharidosis II
Iduronate 2-Sulfatase Deficiency
Lumbar puncture
Cerebrospinal fluid (CSF)
Pediatric
Adult
Biomarkers
Lead sponsor: Takeda
Sponsor class: INDUSTRY
First posted: 2011-10-10
Enrollment: 10
Sex: MALE
Maximum age (years): 70
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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.

Eligibility 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.

Primary outcomes:
measure: Levels of Total Glycosaminoglycan (GAG) in CSF
timeFrame: Day 1
Secondary outcomes:
measure: Levels of GAG in Urine
timeFrame: Day 1
Other outcomes:
Locations:
city: Decatur
country: United States
facility: Emory University
state: Georgia
city: Chicago
country: United States
facility: Ann & Robert H. Lurie Children's Hospital of Chicago
state: Illinois
city: Minneapolis
country: United States
facility: Children's Hospitals and Clinics of Minnesota
state: Minnesota
city: Chapel Hill
country: United States
facility: University of North Carolina, Division of Genetics and Metabolism
state: North Carolina
city: Salt Lake City
country: United States
facility: University of Utah School of Medicine
state: Utah
city: Manchester
country: United Kingdom
facility: Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital
city: Salford
country: United Kingdom
facility: Salford Royal NHS Foundation Trust
Study officials:
affiliation: Takeda
name: Study Director
role: STUDY_DIRECTOR
References:
citation: Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT, Zeman J. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. 2008 Mar;167(3):267-77. doi: 10.1007/s00431-007-0635-4. Epub 2007 Nov 23.
citation: Dickson PI. Novel treatments and future perspectives: outcomes of intrathecal drug delivery. Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S124-7.
citation: Dickson P, McEntee M, Vogler C, Le S, Levy B, Peinovich M, Hanson S, Passage M, Kakkis E. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol Genet Metab. 2007 May;91(1):61-8. doi: 10.1016/j.ymgme.2006.12.012. Epub 2007 Feb 26.
citation: Christian J. Hendriksz, Joseph Muenzer, Barbara K. Burton, Luying Pan, Nan Wang, Hicham Naimy, Arian Pano, and Ann J. Barbier. A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome. Journal of Inborn Errors of Metabolism & Screening, January 2015; vol. 3