Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome

Hunter Syndrome Clinical Trial

Official title:

A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01449240
• Other study ID #: HGT-HIT-072
• Status: Completed
• Start date: November 12, 2012
• Est. completion date: December 20, 2013

Study information

• Verified date: May 2021
• Source: Takeda
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 10
• Est. completion date: December 20, 2013
• Est. primary completion date: December 20, 2013
• Accepts healthy volunteers: No
• Gender: Male
• Age group: N/A to 70 Years

Eligibility

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.

Related Conditions & MeSH terms

• Hunter Syndrome
• Mucopolysaccharidosis II
• Syndrome

Intervention

Other:
• No treatment

Locations

Country	Name	City	State
United Kingdom	Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital	Manchester
United Kingdom	Salford Royal NHS Foundation Trust	Salford
United States	University of North Carolina, Division of Genetics and Metabolism	Chapel Hill	North Carolina
United States	Ann & Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois
United States	Emory University	Decatur	Georgia
United States	Children's Hospitals and Clinics of Minnesota	Minneapolis	Minnesota
United States	University of Utah School of Medicine	Salt Lake City	Utah

Sponsors (1)

Lead Sponsor	Collaborator
Shire

Countries where clinical trial is conducted

United States,  United Kingdom, 

References & Publications (4)

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

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. Epub 2007 Feb 26. — View Citation

Dickson PI. Novel treatments and future perspectives: outcomes of intrathecal drug delivery. Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S124-7. Review. — View 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. Epub 2007 Nov 23. Review. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Levels of Total Glycosaminoglycan (GAG) in CSF	The concentration of total GAG, including heparan sulfate (HS) and dermatan sulfate (DS) oligosaccharides, in CSF was measured using an enzymatic assay.	Day 1
Secondary	Levels of GAG in Urine	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.	Day 1