NCT03529786

Mucopolysaccharidosis Type II Natural History

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 36 (actual)
• Sponsor: REGENXBIO Inc. · Industry
• Sex: Male
• Age: —
• Healthy volunteers: Not accepted

Summary

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency of iduronate-2-sulfatase (IDS) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of MPS II patients, resulting in characteristic storage lesions and diverse disease sequelae, and in patients with the more severe form of the disease, irreversible neurocognitive decline and higher morbidity and mortality than in patients with the attenuated form of the disease. There is currently limited information on the natural history of MPS II, especially with respect to neurocognitive decline in patients with the more severe form of the disease. This study is planned to be an observational medical records review study (data collected retrospectively and no investigational product treatment or procedures) in subjects with the severe form of MPS II. Collectively, the data may inform the design of future MPS II gene therapy treatment studies and may be utilized as historical comparative control data.

Conditions

• Mucopolysaccharidosis II

Timeline

• Start date: 2017-09-27
• Primary completion: 2022-03-22
• Completion: 2022-03-22
• First posted: 2018-05-18
• Last updated: 2022-04-26

Locations

3 sites across 3 countries: United States, Brazil, United Kingdom