Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Thibaud Damy
- 入组人数
- 294
- 试验地点
- 1
- 主要终点
- Number of ATTRm mutations
研究概览
简要总结
Cardiac amyloidosis are related to the accumulation of fibrillar proteins in the extracellular leading to disruption of the cardiac tissue architecture. Amyloidosis in transthyretin (TTR) are the most common hereditary amyloidosis but remain poorly studied at heart. This is serious and deadly. The prevalence of TTR amyloidosis is probably underestimated in hypertrophic cardiomyopathy (HCM) often of unknown etiology because of the lack of systematic implementation of myocardial biopsy because of their side effects.
详细描述
A systematic screening of TTR mutations within the MHC would diagnose cardiac amyloidosis in TTR and improve the care of patients and their families.
The detection of this disease is important because this disease is fatal and a new treatment to prevent the accumulation of TTR is now available (Tafamidis). This drug has proved effective in stabilizing neurological damage.
Depending on the number of patient with cardiac amyloidosis in TTR detected, the prospect will begin a clinical trial to test the effectiveness of a new treatment to prevent the increase in mass of the left ventricle wall objectified resonance nuclear Magnetic.
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 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with cardiomyopathy defined by an ultrasound thickness of the left ventricle >= 13 mm if familial form or >= 15 mm if sporadic form.
- •Patients with a signed consent authorizing the specific blood test for genetic sequencing to look for abnormal TTR gene
排除标准
- •Patients with a diagnosis of cardiomyopathy already determined or related already diagnosed.
- •Significant aortic stenosis (≤ 1 cm ²)
结局指标
主要结局
Number of ATTRm mutations
时间窗: 1 day
Number of ATTRm mutations detected in a large population of patients with HCM.
次要结局
- Genotype and clinical factors(1 day)
研究者
Thibaud Damy
Assistant Professor
French Cardiology Society