A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 44
- 试验地点
- 9
- 主要终点
- Neurocognitive function
研究概览
简要总结
This is a natural history study for children up to 18 years of age who have been diagnosed with Mucopolysaccharidosis Type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B). Mucopolysaccharidosis type IIIB is a severe neurodegenerative disorder. The information gathered from this trial may help inform the design and interpretation of subsequent interventional studies. No clinical intervention or study drug is provided by Allievex in this study.
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
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Have deficient NAGLU enzyme activity at Baseline. Blood for NAGLU enzyme activity will be collected and analyzed centrally.
- •Is up to 18 years of age
- •Written informed consent from parent or legal guardian and assent from subject, if required
- •Has the ability to comply with protocol requirements, in the opinion of the investigator
排除标准
- •Has another neurological illness that may have caused cognitive decline (e.g., trauma, meningitis, or hemorrhage) before study entry
- •Has received stem cell, gene therapy, or enzyme replacement therapy for MPS IIIB
- •Has received any investigational medication within 30 days prior to the Baseline visit or is scheduled to receive any investigational drug during the course of the study
- •Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with protocol requirements, the subject's wellbeing or safety, or the interpretability of the subject's clinical data.
- •Is currently participating in another natural history study
结局指标
主要结局
Neurocognitive function
时间窗: Baseline + every 24 weeks for up to 240 weeks
A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function.
Sleep habits
时间窗: Baseline + every 24 weeks for up to 240 weeks
Patient sleep habits will be assessed using Children's Sleep Habits Questionnaires (CSHQ).
Disease-specific Biomarkers
时间窗: Baseline + every 24 weeks for up to 240 weeks
Urine sample for glycosaminoglycans (GAGs) and creatinine.
Behavioral function
时间窗: Baseline + every 24 weeks for up to 240 weeks
Disease-related behaviors will be assessed using an MPS IIIB specific behavior rating scale.
Quality of Life Tests
时间窗: Baseline + every 24 weeks for up to 240 weeks
Multiple QoL tools will be used to capture physical, mental, and social well-being of the patient as well as to examine the impact of the patient's disease on the parent/guardian and family.
Biochemical, Molecular, Cellular and Genetic Markers of Disease Burden
时间窗: Once (at baseline visit)
Blood and urine samples will be used to evaluate biochemical, molecular cellular, and genetic/genomic aspects of MPS IIIB.
次要结局
未报告次要终点