连锁分析在家族性动脉瘤新遗传因素识别中的应用 (ORPHADIAG)
The aim of this study is to describe the effectiveness of the application of Linkage Analysis, compared to the standard procedures currently provided by the italian NHS, in the identification of thoracic aortic aneurysms and dissection (TAAD) transmission markers in individuals with familial TAAD.
研究概览
详细说明
According to current guidelines, it is important to screen first-degree relatives of patients with familial thoracic aortic aneurysm and dissection (FTAAD) using imaging techniques in order to detect any undiagnosed or asymptomatic cases. The current diagnostic methods for FTAAD involve clinical and instrumental diagnosis. In addition to these methods, genetic analysis through DNA testing, using a blood sample has become an essential tool. The use of massive parallel sequencing (NGS) of multiple genes or the entire exome (Whole Exome Sequencing - WES) is considered the gold standard for genetic diagnosis of FTAAD. However, it should be noted that linkage studies are not currently included in the diagnostic protocols of the Italian National Health System, although they may be helpful in complex familial cases where DNA sequencing has not provided conclusive evidence.
研究类型
注册 (估计的)
联系人和位置
学习联系方式
- 姓名：Alessandro Pini, MD
- 电话号码：+39 0252774705
- 邮箱：alessandro.pini@grupposandonato.it
研究联系人备份
- 姓名：Nathasha S Udugmpolage, Master of Science in Nursing
- 邮箱：nathasha.udugampolage@grupposandonato.it
学习地点
-
-
Milan
-
San Donato Milanese、Milan、意大利、20097
- 尚未招聘
- Cardiovascular Genetic Centre
-
接触：
- Alessandro Pini
- 电话号码：+39 0252774705
- 邮箱：alessandro.pini@grupposandonato.it
-
接触：
- Nathasha S Udugampolage
-
San Donato Milanese、Milan、意大利、20097
- 招聘中
- Cardiovascular Genetic Centre
-
接触：
- Alessandro Pini
- 电话号码：+39 0252774705
- 邮箱：alessandro.pini@grupposandonato.it
-
接触：
- Nathasha S Udugampolage
-
-
参与标准
资格标准
适合学习的年龄
接受健康志愿者
有资格学习的性别
取样方法
研究人群
Families of patients with FTAAD in follow-up in an italian reference centre for genetic aorthopathies.
描述
Inclusion Criteria:
- Patients with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Subjects with small and medium artery aneurysms in the absence of a mutation identified by WES
- Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Signed informed consent
Exclusion Criteria:
- Subjects wit syndromic FTAAD with WES identified gene mutation
- Subjects wit non-syndromic FTAAD with WES identified gene mutation
学习计划
研究是如何设计的？
设计细节
- 观测模型：FAMILY_BASED
- 时间观点：CROSS_SECTIONAL
队列和干预
团体/队列 |
干预/治疗 |
|---|---|
|
FTAAD
members of families with FTAAD |
WES-Linkage analysis in families with FTAAD in follow-up in an Italian reference centre for genetic aorthopathies |
研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
DNA sequences in FTAAD
大体时间：16 months
|
Identify those chromosome regions containing the DNA sequences responsible for each enrolled member of FTAAD families |
16 months
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Mutations associated with Mendelian and monogenic diseases
大体时间：24 months
|
Identification of potential sites for the location of the responsible gene and mutations associated with Mendelian and monogenic diseases. |
24 months
|
合作者和调查者
出版物和有用的链接
一般刊物
- Isselbacher EM, Lino Cardenas CL, Lindsay ME. Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762.
- Carino D, Agostinelli A, Molardi A, Benassi F, Gherli T, Nicolini F. The role of genetic testing in the prevention of acute aortic dissection. Eur J Prev Cardiol. 2018 Jun;25(1_suppl):15-23. doi: 10.1177/2047487318756433.
研究记录日期
研究主要日期
学习开始 (实际的)
初级完成 (估计的)
研究完成 (估计的)
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (实际的)
研究记录更新
最后更新发布 (实际的)
上次提交的符合 QC 标准的更新
最后验证
更多信息
与本研究相关的术语
计划个人参与者数据 (IPD)
计划共享个人参与者数据 (IPD)？
IPD 计划说明
IPD will be considered for sharing after data collection and analysis
药物和器械信息、研究文件
研究美国 FDA 监管的药品
研究美国 FDA 监管的设备产品
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.