Genotype-phenotype Association Study of ENG and ACVRL1 Genes in the Inflammatory and Endothelial Response in Hereditary Hemorrhagic Telangiectasia (HHT)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 85
- 试验地点
- 1
- 主要终点
- Hemorrhagic clinical events
研究概览
简要总结
The present project aims to study the inflammatory and endothelial responses involved in the differences in clinical events related to both genotypes (ENG vs. ACVRL1) in HHT. Accordingly, a cross-sectional study is proposed to evaluate the differences in circulating inflammatory and endothelial biomarkers, including interleukines, adhesion molecules, chemokines and immune regulatory molecules between both HHT groups.
详细描述
Background and rationale: Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease characterized by a multisystemic vascular dysplasia with autosomal dominant inheritance, mainly caused by mutations in ENG and ACVRL1 genes. Even though those mutations have been related to different clinical manifestations, the molecular mechanisms involved in each genetic variant have not been clarified. Methods: A cohort study will be carried out to compare the incidence of clinical events after a 12-months follow-up. The ability of these biomarkers to predict the clinical events will be assessed in a multivariate analysis.
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
- 18 Years 至 75 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age between 18 and 75 years.
- •Confirmed diagnosis of HHT, according to the Curaçao criteria or genetic diagnosis.
- •Clinically stable condition at the time of inclusion, defined as score < 7 points on the Epistaxis Severity Score (ESS).
- •Having signed the informed consent, after having received all the information concerning the study.
排除标准
- •Major coronary or cerebrovascular event in the 3 months prior to inclusion.
- •Serious intercurrent illnesses, such as acute infections, outbreaks of autoimmune or inflammatory pathology, active cancer, or other pathologies that, at the investigator's discretion, could interfere with the conduct of the study.
- •Major surgery during the 2 months prior to inclusion.
- •Pharmacological treatment maintained during the 3 months prior to inclusion with NSAIDs, corticosteroids or chemotherapy.
- •Toxic habits, including severe smoking, alcohol or drug abuse, which in the opinion of the investigator could interfere with the conduct of the study.
- •Pregnancy or puerperium.
- •Any other condition that limits compliance with the visits or procedures established in the protocol.
结局指标
主要结局
Hemorrhagic clinical events
时间窗: 12-month follow-up period after inclusion
Presence of significant bleeding of any location, recurrent and/or massive, or performance of therapeutic procedures to control them.
次要结局
- Other significant clinical events(12-month follow-up period after inclusion)
- Changes in quality of life(12-month follow-up period after inclusion)