Cardiovascular Structure and Function in Mucopolysaccharidosis Types I and IVA
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 240
- 试验地点
- 3
- 主要终点
- Cardiac and Carotid Structure and Function
研究概览
简要总结
The purpose of this study is to better understand how heart and blood vessel problems develop in people with Mucopolysaccharidosis (MPS). The investigators are looking at certain substances in the body called GAGs and proteoglycans to see how they affect the heart. The investigators also want to find reliable blood and urine markers that can help us track heart health and guide future treatments.
This study aims to answer two main questions:
- Do people with MPS show faster changes in their blood vessels over time (such as thickening or stiffening of the carotid artery) compared to people without MPS?
- Do people with MPS have higher levels of certain proteins in their blood (such as clusterin and inflammatory markers) that are linked to blood vessel changes?
What participants will do?
Participants will complete the following tests once a year for 4 years:
- Carotid ultrasound: an imaging test that looks at the blood vessels in the neck.
- Echocardiogram: an ultrasound of the heart.
- Blood draw
- Urine collection
These tests help the investigators track changes in heart and blood vessel health over time.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Any Participant with a molecularly confirmed diagnosis of mucopolysaccharidosis is eligible to enroll in this study
- •Any healthy participant without a diagnosis of mucopolysaccharidosis whose age and biological sex can be matched with an enrolled mucopolysaccharidosis participant
- •Parental / patient informed consent
排除标准
- •Any reason that the investigators would deem a patient not eligible to participate in this study
- •Inability to participate in the assessments required for this study
研究组 & 干预措施
MPS
Participants diagnosed with MPS I or MPS IVA
Control
Participants who do not have an MPS diagnosis
结局指标
主要结局
Cardiac and Carotid Structure and Function
时间窗: Year 1, Year 2, Year 3, and Year 4
1\) We aim to annually assess cardiac and carotid structure and function utilizing ultrasonography, in participants with mucopolysaccharidoses and matched control participants
次要结局
- Measure biomarkers(Year 1, Year 2, Year 3, and Year 4)