The Cardiovascular Genetic and Therapeutic Implications of Muscular Dystrophy
试验速览
- 阶段
- 不适用
- 入组人数
- 60
- 试验地点
- 1
研究概览
简要总结
This study will have significant impact on muscular dystrophy patients as it promotes early screening for heart disease. With early identification, beneficial medical therapy can be started sooner, resulting in restoring and maintaining normal heart function. This is critical to the survival of these patients. We have reported previously that heart failure in all patients may have common mechanisms, the "final common pathway". Heart failure is a significant health problem with 5 million people in the US carrying the diagnosis and accounting for 12-15 million office visits and 6.5 million hospital days per year. The number of deaths from heart failure continues to increase. The data from this study could impact patients worldwide with heart failure by offering new insight into an ever-growing disease population and lead to significant changes in how they are currently treated.
详细描述
Objective(s) and Hypothesis(es): The objectives to be evaluated are as follows:
Specific Hypothesis #1: Heart disease, specifically dilated cardiomyopathy, can be identified early in patients with muscular dystrophy and allow for earlier institution of medical therapies
Specific Hypothesis #2: Non-invasive testing via magnetic resonance imaging (MRI) and echocardiography can identify early systolic and diastolic dysfunction in patients with muscular dystrophy as well as document structural changes ("Reverse remodeling") following institution of medical therapy
Specific Hypothesis #3: Serologic testing can identify early cardiac dysfunction prior to changes on magnetic resonance imaging or echocardiogram that can predict disease onset, risk stratify future cardiac morbidity and mortality, and response to medical therapy
Specific Hypothesis #4: Specific dystrophin mutations can be identified that predict the onset or protection against dilated cardiomyopathy
研究设计
- 研究类型
- Observational
- 观察模型
- Defined Population
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Month 至 65 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients with the diagnosis of muscular dystrophy.
排除标准
- •Patients that do not carry the diagnosis of muscular dystrophy.