Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy Syndromes
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 20
- 试验地点
- 2
- 主要终点
- Plasma miRNA profiling in individuals with aortopathy syndromes
研究概览
简要总结
The primary objective of this study is to determine whether specific patterns of circulating micro-ribonucleic acids (miRNAs) are associated with aortic aneurysm and dissection in patients with hereditary aortopathy syndromes. The most common of these syndromes is Marfan Syndrome (MFS), but several other recognized aortopathy syndromes are well characterized. The investigators propose the use of a simple blood test, from which miRNA profiles can be measured in individuals with aortopathy syndromes to be compared with miRNAs observed in a control population that has no known predisposition for aortic disease. The investigators hypothesize that microRNA profiles in individuals with Marfan syndrome, and related disorders, will be distinct from those seen in a control group. The investigators predict that up- or down-regulation of certain miRNAs will correlate with the presence and severity of aortic aneurysm, responses to medical therapy, and ultimately could be used to determine when an individual may be at risk of dissection.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 30 Days 至 60 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •To be in the study, the participant must meet the following criteria
- •Diagnosis of hereditary aortopathy based upon:
- •Confirmation of a disease causing mutation in a known aortopathy disorder OR
- •Confirmation of disease based on published clinical criteria
- •Participants is male or female and greater than 30 days old
- •Participants are able to undergo standard of care cardiac monitoring including an echocardiogram
- •Willing and able to provide written informed consent by parent(s) or guardian(s) after the nature of the study has been explained and prior to any research related procedures
- •Signed HIPPA compliant research authorization
排除标准
- •Participant will be excluded from the study for any of the following criteria
- •Diagnosis of a hereditary aortopathy can not be confirmed
- •Existence of an additional comorbid condition- including a co-existing genetic syndrome, heart failure, renal disease, rheumatologic disease, history of malignancy, thyroid disease, recent stroke, other life-limiting illness not related to cardiovascular disease.
- •Extreme prematurity, <28 weeks gestational age
结局指标
主要结局
Plasma miRNA profiling in individuals with aortopathy syndromes
时间窗: 3 years
In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with aortopathy syndromes and compare to profiles in normal age-matched controls.
Plasma miRNA profiling in individuals with Marfan syndrome
时间窗: 2 years
In a cross-sectional analysis, characterize circulating miRNA profiles in individuals with Marfan syndrome and compare to profiles in normal age-matched controls.
次要结局
- Correlation of plasma miRNA profiles with aortic dimensions(2 years)