Egyptian Hypertrophic Cardiomyopathy Program
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 2,000
- 试验地点
- 1
- 主要终点
- Study the basic mechanisms responsible for the HCM in Egypt
研究概览
简要总结
Egyptian HCM program aims at defining incidence, severity, phenotype, genotype and determinants of the disease in Egypt, and providing state-of-the-art treatment strategies including medical, surgical and interventional procedures which are patient- and disease-specific.
详细描述
This project aims to:
- Define incidence, severity, phenotype, genotype and determinants of the disease in Egypt.
- Characterise the phenotype and genotype of several large cohorts with inherited muscle disease and their relatives.
- Provide state-of-the-art treatment strategies including medical, surgical and interventional procedures which are patient- and disease-specific.
- Study the basic mechanisms responsible for the different phenotypes at a molecular and cellular level including genotype-phenotype correlation.
- Provide a special focus for studying patients who are genotype positive and phenotype negative which we believe could yield critical data regarding the evolution of the disease.
- Develop sophisticated laboratory studies for single cell electrophysiology and immunocytochemistry and others focusing on the explanted human material from the surgical program.
- Define the role of microvascular coronary artery in the development and progression of the disease.
- Training Egyptian cardiologists, cardiac surgeons and scientists on state-of-the-art diagnosis and management of heart muscle disease including the latest developments in imaging, novel surgical techniques, coronary physiology, next generation sequencing, bioinformatics and cellular electrophysiology.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •All patients diagnosed with hypertrophic cardiomyopathy (index patients) who are willing and consented to participate in the registry.
- •All family members of index patients who are willing and consented to participate in the registry.
排除标准
- •Refusal to consent to participate in the registry program.
结局指标
主要结局
Study the basic mechanisms responsible for the HCM in Egypt
时间窗: through study completion, at least once at the time of inclusion, or
To study different phenotypes at a molecular and cellular level including genotype-phenotype correlation.
Determinants of clinical severity of HCM in Egypt
时间窗: through study completion, an average of 1 follow-up every year, and an average of 5 follow-ups throughout the study duration
Several indicators describing the clinical symptoms and signs
Determinants of cardiac phenotype severity of HCM in Egypt
时间窗: through study completion, an average of 1 follow-up every year, and an average of 5 follow-ups throughout the study duration
Several indicators describing the cardiac phenotype using multimodality imaging
Incidence of HCM in Egypt
时间窗: through study completion, an average of 5 year
per 100,000 population per year
Determinant of genotype severity of HCM in Egypt
时间窗: through study completion, at least once at the time of inclusion
To identify and report the genetic profile of HCM in Egypt.
次要结局
未报告次要终点