A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome)
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 试验地点
- 3
- 主要终点
- Changes in neurodevelopmental parameters of cognitive function over time
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Month 至 8 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Meets any of the following criteria:
- •Has a clinical diagnosis of severe MPS II and has a documented mutation in IDS, OR
- •Has a relative clinically diagnosed with severe MPS II who has the same IDS mutation as the subject, OR
- •Has documented mutation(s) in IDS that in the opinion of the investigator is known to result in a neuronopathic phenotype
- •Has sufficient communication capacity to complete the required protocol testing
- •Patient's legal guardian must be willing and able to provide written, signed informed consent.
排除标准
- •Has had prior treatment with an AAV-based gene therapy product
- •Is currently participating in a clinical trial of an investigational product for the treatment of MPS II with the exception of IT ELAPRASE trials; no investigational product may be taken starting 30 days or 5 half-lives of the investigational product prior to signing the ICF, whichever is longer
结局指标
主要结局
Changes in neurodevelopmental parameters of cognitive function over time
时间窗: 104 weeks
Mullen Scales of Early Learning (MSEL) Visual Reception Domain
Changes in neurodevelopmental parameters of adaptive behavior function over time
时间窗: 104 weeks
Vineland Adaptive Behavior Scales Second Edition (VABS-II)
次要结局
- Changes in sleep(104 weeks)
- Changes in Caregiver reported outcome(104 weeks)
- Changes in quality of life(104 weeks)
- Changes in disease-specific biomarkers over time(104 weeks)