MPS II Biomarkers Study

Protocol Description

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.

Eligibility Criteria

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

Requirements

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.
Visits: 7
Duration: Up to 18 months

Status: Open to Enrollment

Source(s) of Support

Denali Therapeutics Inc.

Additional Information

Study Description at National Institutes of Health
Hunter Syndrome MPS II
Neurodevelopment in Rare Disorders Research

Primary Investigator

Deepa Soundara Rajan, MD

Contact Information

For more information about the study or enrollment, please contact: 
Dawn Kolar, Clinical Research Coordinator 
412-692-8343