Development of a Blood Test for Marfan Syndrome
试验速览
- 阶段
- 不适用
- 入组人数
- 336
- 试验地点
- 5
- 主要终点
- microfibril fragments
研究概览
简要总结
The objective of this study is to determine whether a simple blood test can be a useful clinical tool for monitoring aortic disease in Marfan syndrome and Marfan-related disorders.
详细描述
The primary objective of this study is to determine whether increased quantitites of circulating microfibril fragments, measured with a simple blood test, are associated with aortic root size and increased growth of the aortic root in Marfan syndrome and related disorders. The secondary objectives of this study are to: (1) Determine a Marfan "signature" profile of circulating microfibril fragments. (2) Determine if high concentrations of fibrillin-1 fragments are associated with large aortic root diameters. (3) Determine which fibrillin-1 fragments are good biomarkers for aortic root growth and size in Marfan syndrome. (4) Determine the relation between fibrillin-1, aortic root diameter, and medical and lifestyle factors reported on questionnaires.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 4 Years 至 26 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Age 4-26 years of age for all participants
- •Diagnosis of Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, or Familial Thoracic Aortic Aneurysm and Dissection for inclusion in Marfan and Marfan-related disorders groups
- •Diagnosis of unaffected by Marfan syndrome and Marfan-related disorders for inclusion in control group
- •Able and willing to sign informed consent/assent
- •Signed HIPPA compliant research authorization
排除标准
- •Other known cardiovascular disorder for unaffected controls
结局指标
主要结局
microfibril fragments
时间窗: measured yearly over 5 years
Plasma will be tested using sandwich ELISAs and standard curves to quantitate fragments of fibrillin-1, fibrillin-2, and fibulin-4.
次要结局
- Aortic root growth(yearly for five years)
研究者
Lynn Y. Sakai, Ph.D.
Sr. Investigator
Shriners Hospitals for Children