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Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)

This study has been completed.
Information provided by (Responsible Party):
Shire Identifier:
First received: March 12, 2013
Last updated: October 19, 2016
Last verified: October 2016
Hunter syndrome (Mucopolysaccharidosis II, [MPS II]) is a rare, genetically linked lysosomal storage disease (LSD) caused by deficiency of the enzyme, iduronate-2-sulfatase (I2S). Most MPS II patients will present with some degree of neurodevelopmental involvement, ranging from severe cognitive impairment and behavioral problems to mildly impaired cognition. This is an observational study; no investigational treatment will be administered. The primary objective of this study is to evaluate the neurodevelopmental status of pediatric patients with MPS II over time and to gain information to guide future treatment studies in this patient population.

Mucopolysaccharidosis (MPS)
Hunter Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Prospective, Longitudinal, Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)

Resource links provided by NLM:

Further study details as provided by Shire:

Primary Outcome Measures:
  • Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II [ Time Frame: 24 months ]
  • Neurodevelopmental parameters of adaptive function over time in pediatric patients with MPS II [ Time Frame: 24 months ]

Secondary Outcome Measures:
  • Reported adverse events [ Time Frame: 24 months ]
    Type and severity measurements

  • Medication usage [ Time Frame: 24 months ]
  • Quality of life [ Time Frame: 24 months ]

Biospecimen Retention:   Samples With DNA
Genotyping of the iduronate-2-sulfatase gene will be required ONLY for those patients who have not had a previous genotyping sample analysis performed at the selected diagnostic laboratory.

Enrollment: 100
Study Start Date: January 2013
Study Completion Date: October 2016
Primary Completion Date: October 2016 (Final data collection date for primary outcome measure)
No treatment
Observational non-treatment study


Ages Eligible for Study:   2 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Male MPS II patients between 2<18 years of age at time of informed consent

Inclusion Criteria:

Patients must meet all of the following criteria to be considered eligible for enrollment:

  1. a. The patient has a deficiency in iduronate-2-sulfatase enzyme activity AND b. The patient has a documented mutation in the iduronate-2-sulfatase gene. OR c. The patient has a normal enzyme activity level of one other sulfatase
  2. The patient is male, and is at least 2 years of age and less than 18 years of age at the time of informed consent.
  3. The patient must have sufficient auditory capacity at enrollment, with or without hearing aids, in the Investigator's judgment to complete the required protocol testing, and be compliant with wearing the aids on scheduled study visits.
  4. The patient, patient's parent(s), or legally authorized guardian(s) has voluntarily signed an Institutional Review Board / Independent Ethics Committee-approved informed consent and/or assent form(s), as applicable.

Exclusion Criteria:

Patients who meet any of the following criteria will be excluded from the study.

  1. The patient has clinically significant non-Hunter syndrome-related CNS involvement or medical or psychiatric comorbidity(ies) which, in the investigator's judgment, may interfere with the accurate administration and interpretation of protocol assessments, affect study data, or confound the integrity of study results.
  2. The patient has a general conceptual ability score (GCA) or a developmental quotient on the cognitive scale below 55 at Screening.
  3. The patient is participating in an interventional clinical trial or has participated in an interventional clinical trial within 30 days prior to enrollment; participation in non interventional observational studies is permitted.
  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 identifier: NCT01822184

United States, California
Childrens Hospital & Research Center Oakland
Oakland, California, United States, 94609
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States, 60611
United States, North Carolina
University of North Carolina Division of Genetics and Metabolism
Chapel Hill, North Carolina, United States, 27514
Hospital Universitario Austral
Pilar, Buenos Aires, Argentina, B1629ODT
Instituto Nacional De Pediatria
Mexico City, Mexico, 04530
Hospital Infantil Universitario
Madrid, Spain, 28009
United Kingdom
Central Manchester University Hospitals NHS Foundation Trust Willink Biochemical Genetics Unit, St. Mary's Hospital
Manchester, M13 9wl, United Kingdom
Sponsors and Collaborators
Study Director: David Alexanderian, DO Shire Human Genetic Therapies
  More Information

Responsible Party: Shire Identifier: NCT01822184     History of Changes
Other Study ID Numbers: HGT-HIT-090
Study First Received: March 12, 2013
Last Updated: October 19, 2016

Keywords provided by Shire:
Neurodevelopmental Status
Pediatric Hunter syndrome patients
Central Nervous System (CNS) involvement
Observational study
Cognitive impairment

Additional relevant MeSH terms:
Mucopolysaccharidosis II
Pathologic Processes
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System processed this record on April 28, 2017