NCT04591834

Mucopolysaccharidosis Type II Observational

A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome)

• Status: Withdrawn
• Phase: —
• Study type: Observational
• Enrollment: 0 (actual)
• Sponsor: REGENXBIO Inc. · Industry
• Sex: Male
• Age: 1 Month – 8 Years
• Healthy volunteers: Not accepted

Summary

This is an observational study planned to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care and/or intrathecal Elaprase® for their condition. Some patients may be offered the opportunity to screen for a gene therapy study conducted by the same sponsor.

Detailed description

MPS II is a rare X-linked recessive genetic disease caused by mutations in the iduronate-2-sulfatase gene (IDS). Enzyme replacement therapy (ERT) with recombinant idursulfase (ELAPRASE®) is the only approved product for the treatment of Hunter syndrome; however, ERT as currently administered does not cross the blood brain barrier and is therefore unable to address the unmet need in MPS II patients with CNS (neurocognition and behavior) involvement. This is an observational study to document prospectively disease manifestation and neurocognitive course in pediatric patients with a clinical presentation consistent with neuronopathic ("severe") MPS II undergoing current standard of care for their condition. Approximately forty pediatric subjects who have severe MPS II will be enrolled. Changes in neurodevelopmental parameters of cognitive, behavioral, and adaptive function over time will be the primary focus for a duration of 104 weeks.

Conditions

• Mucopolysaccharidosis II

Interventions

Type	Name	Description
OTHER	Observational	An observational study in subjects with the severe form of MPS II.

Timeline

• Start date: 2022-03-01
• Primary completion: 2025-07-01
• Completion: 2025-07-01
• First posted: 2020-10-19
• Last updated: 2022-10-10

Locations

3 sites across 2 countries: United States, Canada