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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01822184
Recruitment Status : Completed
First Posted : April 2, 2013
Last Update Posted : March 17, 2021
Information provided by (Responsible Party):
Takeda ( Shire )

Brief Summary:
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.

Condition or disease
Mucopolysaccharidosis (MPS) Hunter Syndrome

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Study Type : Observational
Actual Enrollment : 100 participants
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)
Actual Study Start Date : January 18, 2013
Actual Primary Completion Date : October 5, 2016
Actual Study Completion Date : October 5, 2016

No treatment
Observational non-treatment study

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

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

  2. Medication usage [ Time Frame: 24 months ]
  3. 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.

Information from the National Library of Medicine

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, Learn About Clinical Studies.

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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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01822184

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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
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Study Director: Study Director Takeda
Additional Information:
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Responsible Party: Shire Identifier: NCT01822184    
Other Study ID Numbers: HGT-HIT-090
First Posted: April 2, 2013    Key Record Dates
Last Update Posted: March 17, 2021
Last Verified: March 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Takeda provides access to the de-identified individual participant data (IPD) for eligible studies to aid qualified researchers in addressing legitimate scientific objectives (Takeda's data sharing commitment is available on These IPDs will be provided in a secure research environment following approval of a data sharing request, and under the terms of a data sharing agreement.
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Clinical Study Report (CSR)
Access Criteria: IPD from eligible studies will be shared with qualified researchers according to the criteria and process described on For approved requests, the researchers will be provided access to anonymized data (to respect patient privacy in line with applicable laws and regulations) and with information necessary to address the research objectives under the terms of a data sharing agreement.
Keywords provided by Takeda ( Shire ):
Neurodevelopmental Status
Pediatric Hunter syndrome patients
Central Nervous System (CNS) involvement
Observational study
Cognitive impairment
Additional relevant MeSH terms:
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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