NCT05833620尚未招募不适用
Identification and Functional Characterization of Genetic Variants Associated With Specific Clinical Phenotypes in Hereditary Angioedema Due to C1 Inhibitor Deficiency: An Unbiased Approach
适应症
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 200
- 试验地点
- 2
- 主要终点
- Set of validated disease-modifying genetic variants in Spanish patients with HAE-C1INH
研究概览
简要总结
This project aims to analyse in an unbiased way the existence of genetic variants that contribute to explaining and predicting the differences in clinical expression between patients with HAE.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
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
- •Adult patients (≥ 18 years old) with HAE-C1INH diagnosis (confirmed by mutation in SERPING1 gen or immunochemical study showing a decrease in C1INH function <50% in two determinations together with a family history (symptomatic patients' group)
- •Patients ≥ 22 years old with C1INH hereditary deficiency (confirmed by mutation of SERPING1 gene or immunochemical study showing a decrease in C1INH function <50% in two determinations together with a family history) and who have not developed symptoms consistent with HAE-C1INH
- •Signed informed consent.
排除标准
- •No confirmed C1INH deficiency.
- •Inability to sign the informed consent.
- •Presence of recurrent angioedema with histaminergic characteristics (response to treatment with antihistamines, glucocorticoids and/or epinephrine)
结局指标
主要结局
Set of validated disease-modifying genetic variants in Spanish patients with HAE-C1INH
时间窗: Day 1
To identify and characterize novel genetic variants associated with the incomplete penetrance and variable clinical expressivity observed in HAE-C1INH patients.
次要结局
未报告次要终点
研究者
研究点 (2)
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