Growth Hormone in a Patient With a Dominant-Negative GHR Mutation
试验速览
- 阶段
- 2 期
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Growth Hormone Dose
研究概览
简要总结
This is a prospective interventional study designed for a single patient with a dominant-negative mutation in the growth hormone receptor gene (GHR) which results in increased levels of growth hormone binding protein (GHBP). The patient will receive escalating doses of growth hormone titrated to achieve an insulin like growth factor-1 level above the mean and then growth response to therapy will be monitored.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 9 Years 至 —（Child, Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Provision of signed and dated informed consent form
- •Stated willingness to comply with all study procedures and availability for the duration of the study
- •Be the specific subject with the a specific mutation in GHR leading to high GHBP.
排除标准
- •There are no exclusion criteria for this study.
研究组 & 干预措施
Growth hormone
The participant will receive escalating dose of growth hormone until an IGF-1 level is maintained between the mean and +2 standard deviations.
干预措施: Somatropin (Drug)
结局指标
主要结局
Growth Hormone Dose
时间窗: 1 year
Dose of growth hormone required in mg/kg/day to achieve an IGF-1 level above the mean
次要结局
- Growth Velocity(1 year)
- Height Standard Deviation Score Using Center for Disease Control (CDC) Growth Chart(Baseline to 1 Year)
研究者
Andrew Dauber
Chief of Endocrinology
Children's National Research Institute