Cardiovascular Structure and Function in the Mucopolysaccharidoses
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 30
- 试验地点
- 2
- 主要终点
- Cardiovascular Event
研究概览
简要总结
This study's investigators previously demonstrated the potential utility of non-invasive carotid ultrasonography to calculate carotid intima media thickness (cIMT) and stiffness (as measured by the three parameters, carotid cross-sectional distensibility [cCSD], carotid cross-sectional compliance [cCSC], and carotid incremental elastic modulus [cIEM]) in people with mucopolysaccharidoses (MPS).
Investigators also studied arterial gene expression in animal models of MPS, and identified upregulation of a number of markers potentially tied to atherosclerosis and inflammation. These include the atherosclerotic marker known as Clusterin (CLU), Cathepsin S, Elastin, and the inflammatory cytokines interleukin 1-α, interleukin 1-β, interleukin 2, and interleukin 6. Other studies have identified elevation in circulating tumor necrosis factor-α correlating with pain and physical disability in certain mucopolysaccharidoses.
Since these studies are cross sectional, and not longitudinal, this study aims to annually measure these previously studied biomarkers (carotid measurements, circulating cytokines, cathepsin S, elastin, and CLU) in a large cohort of MPS patients. This study is a 3-year, prospective, anonymized, longitudinal assessment of cardiovascular structure, function, and circulating biomarkers in patients with mucopolysaccharidoses.
详细描述
Specific Aims
- Annually assess cardiac and carotid structure and function utilizing ultrasonography, in patients with mucopolysaccharidoses
- Annually measure circulating levels of clusterin, elastin, cathepsin S, lipids, and cytokines in patients with mucopolysaccharidoses
Target enrollment 30 subjects at CHOC Children's Hospital
Study Protocol
Screening
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Any patient with a molecularly confirmed diagnosis of mucopolysaccharidosis is eligible to enroll in this study
- •Parental / patient informed consent
排除标准
- •Any reason that the investigators would deem a patient unable to participate in this study
- •Inability to participate in the assessments required for this study
结局指标
主要结局
Cardiovascular Event
时间窗: 3 years
A cardiovascular event is defined by new onset of clinically significant aortic or mitral valve disease, aortic root dilatation, cardiomyopathy, reduction in cardiac contractile function, myocardial ischemia, myocardial infarction, or cerebrovascular accident
次要结局
- Height(3 years)
- Blood pressure(3 years)
- Carotid structure(3 years)
- Age(3 years)
- Weight(3 years)
- Cardiac structure (aortic root diameter)(3 years)
- Inflammatory biomarkers (lipidomics)(3 years)
- Inflammatory biomarkers (Tumor Necrosis Factor - alpha)(3 years)
- Inflammatory biomarkers (Elastin)(3 years)
- Carotid stiffness(3 years)
- Cardiac structure (left ventricle)(3 years)
- Mitral valve function(3 years)
- Aortic valve function(3 years)
- Inflammatory biomarkers (Cathepsin S)(3 years)
- Inflammatory biomarkers (Clusterin)(3 years)