Description Module
The Description Module contains narrative descriptions of the clinical trial, including a brief summary and detailed description. These descriptions provide important information about the study's purpose, methodology, and key details in language accessible to both researchers and the general public.
Description Module path is as follows:
Study -> Protocol Section -> Description Module
Description Module
Ignite Creation Date:
2025-12-25 @ 2:27 AM
Ignite Modification Date:
2025-12-25 @ 2:27 AM
NCT ID:
NCT04591834
Brief 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.
Study:
NCT04591834
Study Brief:
Protocol Section:
NCT04591834