NCT01735188已完成不适用
A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies
Origin Biosciences32 个研究点 分布在 14 个国家目标入组 65 人开始时间: 2013年8月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 65
- 试验地点
- 32
- 主要终点
- To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival
研究概览
简要总结
Primary objective:
Characterize the natural history of MoCD type A in terms of survival
Secondary objectives:
- Evaluate blood and urine for biochemical markers
- Evaluate head circumference, seizure activity and neurologic outcomes
- To evaluate brain MRI
- Compare blood and urine analysis, head circumference, seizure activity and neurologic outcomes to MRI findings
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Both living and deceased patients of any age will be considered for study inclusion.
- •Diagnosis of MoCD or isolated SOX deficiency
- •Documented informed consent
排除标准
- •MoCD Type A patient who was in Study ALX-MCD-501
- •Deceased patients with unknown genotype (as of Amendment 4)
结局指标
主要结局
To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival
时间窗: 12 months
次要结局
- To evaluate levels of the biochemical markers S-sulfocysteine (SSC), uric acid, and xanthine in blood, urine, and cerebral spinal fluid over time in patients with MoCD and isolated sulfite oxidase (SOX) deficiency.(12 months)
研究者
研究点 (32)
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