Assessment of Subtle Myocardial Dysfunction in Children With Wilson's Disease: A Case-Control Study
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 72
- 试验地点
- 2
- 主要终点
- Left Ventricular Peak Longitudinal Strain (LV-PLS)
研究概览
简要总结
Wilson's disease (WD) is one of the most common metabolic liver diseases in older children. The most frequent clinical presentation is liver disease. However, Wilson's disease (WD) is a multisystem disorder. It is concluded that four modes of cardiac manifestations in Wilson's disease (WD) include arrhythmias, cardiomyopathy, cardiac death, and autonomic dysfunction. Such possible cardiac involvement should be added to the clinical picture of Wilson's disease (WD) involving the hepatic and central nervous system(CNS).
The data on cardiac manifestations in children is very limited and only few adult studies are available.
In this study, the investigators aim to unveil subclinical cardiac dysfunction in children with Wilson's disease with apparently normal cardiac functions by conventional assessment.
详细描述
Wilson's disease (WD) is an autosomal recessive metabolic liver disorder caused by toxic copper accumulation. While hepatic and neurological manifestations are well recognized, copper can also accumulate in cardiac tissue, potentially leading to subtle myocardial changes, arrhythmias, and heart failure. Traditional two-dimensional (2D) echocardiography often appears normal in early stages. This study aims to evaluate early left ventricular (LV) systolic and diastolic dysfunction in pediatric patients with Wilson's disease using speckle tracking echocardiography (STE) and tissue Doppler imaging, and to correlate these findings with serum levels of Pro-Brain Natriuretic Peptide (Pro-BNP) and ceruloplasmin.
研究设计
- 研究类型
- 观察性
- 观察模型
- 病例对照
- 时间视角
- 横断面
入排标准
- 年龄范围
- 4 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- Confirmed diagnosis of Wilson's disease based on Leipzig scoring criteria (including clinical signs, Kayser-Fleischer rings, low ceruloplasmin, or genetic analysis).
- Age between 4 years and 18 years.
- Written informed consent obtained from parents or legal guardians.
排除标准
- Children with clinical evidence of overt heart failure or known congenital heart disease.
- Children suffering from fulminant hepatitis.
- Known co-existing primary liver diseases other than Wilson's disease.
- Presence of syndromic disorders or major congenital anomalies.
研究组 & 干预措施
Group 1 (Cases)
Children aged 4-18 years with confirmed Wilson's disease recruited from the Pediatric Hepatology Clinic at the National Hepatology and Tropical Medicine Research Institute (NHTMRI).
干预措施: Echocardiography (Device)
Group 1 (Cases)
Children aged 4-18 years with confirmed Wilson's disease recruited from the Pediatric Hepatology Clinic at the National Hepatology and Tropical Medicine Research Institute (NHTMRI).
干预措施: Electrocardiography (Device)
Group 1 (Cases)
Children aged 4-18 years with confirmed Wilson's disease recruited from the Pediatric Hepatology Clinic at the National Hepatology and Tropical Medicine Research Institute (NHTMRI).
干预措施: N-terminal pro b- type natriuretic peptide (Diagnostic Test)
Group 2 (Controls)
Age- and sex-matched control children without chronic liver or cardiac illness recruited from the outpatient clinic.
干预措施: Echocardiography (Device)
结局指标
主要结局
Left Ventricular Peak Longitudinal Strain (LV-PLS)
时间窗: Baseline (Day 1 , at single cross-sectional evaluation).
Left Ventricular Peak Longitudinal Strain (LV-PLS) assessed by Speckle Tracking Echocardiography (STE) to evaluate subclinical LV systolic dysfunction. Expressed as a negative percentage (%), where a less negative percentage indicates impaired function.
次要结局
- Serum Pro-Brain Natriuretic Peptide (Pro-BNP) Level(Baseline (Day 1 , at single cross-sectional evaluation).)
- Tissue Doppler LV Filling Pressure (E/e' Ratio)(Baseline (Day 1 , at single cross-sectional evaluation).)
- Serum Ceruloplasmin Level Correlation(Baseline (Day 1,at time of cardiac evaluation or within 6 months preceding cardiac evaluation).)
- Frequency of Electrocardiographic (ECG) Abnormalities(Baseline (Day 1 , at single cross-sectional evaluation).)
研究者
Hebatullah Fawzy
(Principal Investigator / Postgraduate Master's Student / ASU / Pediatric Resident /NHTMRI)
研究点 (2)
标识符
- NCT 编号
- NCT07765472
- 其他研究编号
- Wilson's disease and Heart
日期
- 首次提交
- (上个月)
- 首次发布
- (上个月)
- 主要完成日期
- (29天后)
- 研究完成日期
- (2个月后)
- 最近核实
- (2个月前)
- 最近更新
- (上个月)
监管与共享
- FDA 监管药物
- 否
- FDA 监管器械
- 否
- 个体参与者数据共享计划
- UNDECIDED
- 是否有结果
- 否