Stratification of Arrhythmic Risk and/or Heart Failure Risk in Patients With Hereditary Heart Disease
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 1,000
- 试验地点
- 14
- 主要终点
- Arrhythmic and heart failure risk stratification
研究概览
简要总结
Sudden cardiac death (SCD) is one of the leading causes of death in developed countries. These deaths (more than 5,000 per year in France) are due to hereditary arrhythmias or cardiomyopathies. Early diagnosis of SCD is often achieved through family screening, but the main challenge is to stratify the risk of SCD in these patients. Indeed, prevention of SCD relies mainly on the implantation of an automatic defibrillator. The challenge is to identify patients who will develop SCD and avoid implanting an implantable cardioverter defibrillator (ICD) in patients who will never develop arrhythmias but who will face complications related to the ICD (inappropriate shocks, infection, lead failure), leading to a reduced quality of life and significant costs for the healthcare system. However, there is a lack of relevant clinical and biological markers for risk stratification, which rules out any possibility of preventive screening. Most of the clinical and ECG (electrocardiogram) parameters identifying an increased risk of SCD have not been reproduced in replication studies.
In this project, the investigator will develop a data processing and analysis pipeline using artificial intelligence methods to assess the individual risk of serious arrhythmic events or heart failure in patients with hereditary arrhythmic diseases or cardiomyopathies through the automated processing of multimodal data (clinical data, electrocardiogram (ECG), imaging (echocardiography, MRI magnetic resonance imaging), genetic data, biomarkers).
详细描述
The eligibility of patients (index cases and related cases) for the study will be determined during a cardiology consultation or day hospitalisation, carried out as part of routine care.
The investigator undertakes to obtain the person's free, informed and express consent, collected in writing, after providing them with oral and written information on the protocol and allowing them sufficient time to reflect. In the case of a minor patient, the investigator undertakes to inform the minor patient and their legal representatives orally and in writing and to obtain the minor's assent, i.e. their oral or written agreement depending on their age, and the written consent of their legal representatives.
Specific acts for research:
- Collection of two additional EDTA tubes (2 x 5 ml) during a blood test carried out as part of routine care, except for minors under the age of 4, for whom a saliva sample will be offered instead.
- Collection of one dry tube (5 ml) during a blood test carried out as part of routine care for biomarker analysis and only for adult patients.
Clinical data will be collected in a parameterised and secure eCRF (electronic Case Report Form).
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
- 1 Year 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •I. hereditary heart disease II. All relatives of patients III. Patients referred to the reference centre for suspected hereditary rhythm disorders or cardiomyopathies IV. Written consent V. social security scheme
排除标准
- •I. Patients participating in a therapeutic trial that may interfere with the research results II. Patients under guardianship or curatorship.
结局指标
主要结局
Arrhythmic and heart failure risk stratification
时间窗: 5, 8 and 10 years
to assess the arrhythmic risk and/or risk of heart failure in patients with hereditary heart disease at 5, 8 and 10 years, using a model combining clinical, electrocardiographic, imaging, genetic and biomarker data.
次要结局
- Demographics data(5, 8 and 10 years)
- Diagnosis of Brugada syndrome(5 years)