NCT02256163已完成不适用
Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 258
- 试验地点
- 1
- 主要终点
- Impact of known mutations and research of new genes involved in non syndromic TAA
研究概览
简要总结
The primary objectives of the study are
- to assess the contribution of alteration of each known gene on non-syndromic TAA.
- to map and identify unknown gene involved in the non-syndromic TAA.
详细描述
The secondary objectives of the study are
- to study the correlation of phenotype-genotype, in particular, to compare the aortic phenotype of non-syndromic TAA patients and TAA syndromic patients.
- to develop national standardized strategies of genetic diagnosis and of clinical management using genetic data.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Aged > 18 years.
- •Written informed consent obtained.
- •People with health insurance.
- •For individual:
- •people ≥ 45 years, thoracic aortic aneurysm without syndrome,
- •or people > 45 years with familial TAA.
- •For family:
- •At least 2 members of family in 2 generations have TAA without syndrome and at least 2 patients of TAA will undergo blood collection.
- •All people in family will undergo blood collection, each member should declare at first his (her) status (with or without TAA, unknown), the relationship (direct relative family or family in-law), no limit of age. For the children, only those with TAA will perform blood collection for the study.
排除标准
- •Thoracic aortic aneurysm with different syndromes (Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, Noonan syndrome).
- •Arterial hypertension.
结局指标
主要结局
Impact of known mutations and research of new genes involved in non syndromic TAA
时间窗: 1 year
Research for mutations in known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11. Research for new genes in families and in individuals TAA patients without known mutation.
次要结局
未报告次要终点
研究者
研究点 (1)
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