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

Therapuetic Areas:Pharmacology / Toxicology
Age Range:2 - 18
Start Date:January 2013
End Date:March 2017
Contact:Ann Barbier, MD, PhD

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

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.

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.
We found this trial at
747 52nd St
Oakland, California 94609
(510) 428-3000
Children's Hospital and Research Center Oakland For nearly 100 years, Children's Hospital & Research Center...
Oakland, CA
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Chapel Hill, NC
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225 E Chicago Ave
Chicago, Illinois 60611
(312) 227-4000
Ann & Robert H. Lurie Children's Hospital of Chicago Ann & Robert H. Lurie Children
Chicago, IL
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