A Multicenter, Open-Label Study of the Safety, Tolerability, and Pharmacodynamics of Intravenously Administered cPMP (Precursor Z) in Patients With Molybdenum Cofactor Deficiency Type A
试验速览
- 阶段
- 1 期
- 状态
- 撤回
- 发起方
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Urine biomarkers SSC and sulfite
研究概览
简要总结
Molybdenum Cofactor Deficiency Type A (MoCD) is a very rare autosomal recessive disorder that is essentially fatal early in life. Naturally occurring cPMP is present in the body of all healthy normal individuals. It is processed to molybdopterin, which is further processed to molybdenum cofactor. Molybdenum cofactor is essential for the function of important enzymes.
There is currently no treatment for MoCD, and affected infants develop severe neurological damage which often results in infant death.
This study is the first clinical trial to investigate the potential of replacement of cPMP to infants with MoCD Type A. The safety, tolerability, and pharmacodynamics of daily intravenous administration of cPMP over 3 months will be determined.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- — 至 6 Weeks（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Neonate or infant, less then 6 weeks at the time of diagnosis, age less than 8 weeks at start of treatment with the study medication. It is important to diagnose the condition and initiate treatment as soon after birth as possible.
- •Documented diagnosis of molybdenum cofactor deficiency (MoCD) Type A based on the absence of cPMP and the presence of sulfite and s-sulfocysteine in the urine, absence of urothione in the urine and genetic analysis showing a mutation in the MOCS1 gene
- •A parent or legal guardian voluntarily provided written informed consent to participate in the study and comply with study procedures.
- •Approval of the study protocol by the local HE / IRB and government or regulatory authorities (if applicable)
排除标准
- •MoCD Type B (MOCS2 mutation) or Type C (gephyrin gene mutation)
- •Sulfite oxidase deficiency
- •Patients older than 6 weeks at the time of diagnosis
研究组 & 干预措施
cPMP
干预措施: cPMP (Drug)
结局指标
主要结局
Urine biomarkers SSC and sulfite
时间窗: Daily collection throughout study; analyzed at 3 months
次要结局
- neurological examination(collected daily; analyzed at 3 months)
- Safety measures (vital signs, adverse events)(collected daily; analyzed at 3 months)