Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome

NCT01449240 | Completed Results

• 1 other identifier: HGT-HIT-072
• Study Type: observational
• Target: 10
• Locations: 2 countries
• Sites: 7

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.

Conditions

Hunter Syndrome

Keywords

Hunter syndrome; Mucopolysaccharidosis II; Iduronate 2-Sulfatase Deficiency; Lumbar puncture; Cerebrospinal fluid (CSF); Pediatric; Adult; Biomarkers

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Levels of GAG in Urine

  Day 1

Study Arms (1)

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

Interventions

No treatment OTHER

No treatment

Eligibility Criteria

• Age: Up to 70 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Shire: lead

Study Sites (7)

Emory University

Decatur, Georgia, 30033, United States

Location

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611-2605, United States

Location

Children's Hospitals and Clinics of Minnesota

Minneapolis, Minnesota, 55404, United States

Location

University of North Carolina, Division of Genetics and Metabolism

Chapel Hill, North Carolina, 27599, United States

Location

University of Utah School of Medicine

Salt Lake City, Utah, 84113, United States

Location

Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital

Manchester, M13 9WL, United Kingdom

Location

Salford Royal NHS Foundation Trust

Salford, M6 8HD, United Kingdom

Location

Related Publications (4)

• 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.

  PMID: 18038146 BACKGROUND

• Dickson PI. Novel treatments and future perspectives: outcomes of intrathecal drug delivery. Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S124-7.

  PMID: 20040323 BACKGROUND

• 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.

  PMID: 17321776 BACKGROUND

• 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

  BACKGROUND

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.

MeSH Terms

Conditions

Mucopolysaccharidosis II

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Results Point of Contact

• Title: Study Director
• Organization: Shire

ClinicalTransparency@shire.com

+1 866 842 5335

Study Officials

• Study Director

  Takeda

  STUDY DIRECTOR

Publication Agreements

• PI is Sponsor Employee: No
• Restriction Type: OTHER
• Restrictive Agreement: Yes

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 6, 2011
• First Posted: October 10, 2011
• Study Start: November 12, 2012
• Primary Completion: December 20, 2013
• Study Completion: December 20, 2013
• Last Updated: June 9, 2021
• Results First Posted: December 5, 2014

Record last verified: 2021-05

Locations

US (5); GB (2)