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The objective of this multi-center observational study is to identify disease-related biomarkers in blood, urine, and cerebral spinal fluid (CSF) that may aid in the development of treatments for mucopolysaccharidosis type II (MPS II) also called Hunter syndrome. Hunter syndrome is an inherited genetic condition in which a defective iduronate-2-sulfatase gene (IDS) prevents production of the enzyme iduronate-2-sulfatase (I2S). The lack of circulating I2S enzyme can lead to progressive damage to the brain, heart, and other organs.
As an observational study, no investigational treatment will be administered, although patients may be on approved therapies for MPS II while participating.
Subject to exclusion criteria, this study is enrolling participants ages 2 to 30 years with a confirmed diagnosis of MPS II.
Males and Females: Ages 2 to 30 years
Participants will have periodic physical exams and samples collected (blood, urine, cerebrospinal fluid) as required by the study protocol. Other developmental assessments and quality of life questionnaires may be administered.
Duration: Up to 18 months
Denali Therapeutics Inc.
Study Description at National Institutes of Health
Hunter Syndrome MPS II
Neurodevelopment in Rare Disorders Research
Deepa Soundara Rajan, MD
For more information about the study or enrollment, please contact:
Dawn Kolar, Clinical Research Coordinator
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UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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