MPS II Natural History Study

A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects with Severe Mucopolysaccharidosis Type II (Hunter Syndrome)

Protocol Description

This international multi-center study is being done to help researchers better understand the natural history and progression of the severe form of mucopolysaccharidosis type II (MPS II) in boys. Also known as Hunter Syndrome, it 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. The study will gather information from participants’ medical records and from questionnaires completed by their parents.

Eligibility Criteria

Subject to exclusion criteria, this study is enrolling boys who have been diagnosed with the severe form of MPS II and have medical chart documentation of neurocognitive testing, prevalence of disease-related organ involvement, and age of onset organ involvement.
Males: All ages (medical chart documentation must be present up to age 10)

Requirements

Parents/guardians will be asked to participate in telephone questionnaires about the study participant. Researchers will ask about the child's daily living skills (e.g. dressing, grooming, eating), sleeping habits, social skills, and movement and communication abilities resulting from having MPS II.
Visits: None required
Duration: Not applicable

Status: Active, not recruiting

Source(s) of Support

Regenxbio Inc.

Primary Investigator

Maria L. Escolar, MD, MS

Contact Information

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