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.
Study Type
OBSERVATIONAL
Enrollment
100
Childrens Hospital & Research Center Oakland
Oakland, California, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
University of North Carolina Division of Genetics and Metabolism
Chapel Hill, North Carolina, United States
Hospital Universitario Austral
Pilar, Buenos Aires, Argentina
Instituto Nacional De Pediatria
Mexico City, Mexico
Hospital Infantil Universitario
Madrid, Spain
Central Manchester University Hospitals NHS Foundation Trust Willink Biochemical Genetics Unit, St. Mary's Hospital
Manchester, M13 9WL, United Kingdom
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
Reported adverse events
Type and severity measurements
Time frame: 24 months
Medication usage
Time frame: 24 months
Quality of life
Time frame: 24 months
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