NCT05409846已完成不适用
Frequency of Fabry Disease in Portuguese Patients With Idiopathic Cardiomyopathies
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 409
- 试验地点
- 11
- 主要终点
- Frequency of Fabry Disease in patients with idiopathic cardiomyopathies
研究概览
简要总结
In Portugal, the prevalence of Fabry disease is largely unknown as recently has been stressed by the Portuguese hypertrophic cardiomyopathy registry investigators.
On the other hand, few data on Fabry screening protocols in patients with compromised ejection fraction including burned-out hypertrophic cardiomyopathy series have been published.
This project intends to perform screening of Fabry disease in patients with distinct cardiomyopathy phenotypes of unknown or dubious etiology and explore the less knew impact of the disease in other cardiac phenotypes.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 30 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with heart disease diagnosed after the age of 30:
- •unexplained hypertrophic cardiomyopathy (Group A)
- •unexplained left ventricle hypertrophy confirmed in two different examinations using the same or different imaging methods (Group B)
- •unexplained burned-out hypertrophic cardiomyopathy (Group C)
- •unexplained dilated cardiomyopathy with evidence of late gadolinium enhancement involving the basal posterolateral wall segments (Group D)
排除标准
- •previous exclusion of Fabry disease
- •previous identified causal pathogenic/likely pathogenic genetic variant
- •evidence of cardiomyopathy under the age of 30
结局指标
主要结局
Frequency of Fabry Disease in patients with idiopathic cardiomyopathies
时间窗: 12 months
Ratio of number of patients with Fabry Disease and total number of idiopathic cardiomyopathies patients
次要结局
- Familiar screening of Fabry Disease(12 months)
研究者
研究点 (11)
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