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NCT Number: NCT07765472

Subclinical Myocardial Dysfunction in Children With Wilson's Disease

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.

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Key information

Conditions

Wilson's Disease Basal Ganglia Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Children Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Electrocardiographic Changes Genetic Diseases, Inborn Heart Diseases Hepatolenticular Degeneration Heredodegenerative Disorders, Nervous System Liver Diseases Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Movement Disorders Myocardial Dysfunction Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases Speckle Tracking Echocardiography Ventricular Dysfunction Ventricular Dysfunction, Left Wilson Disease

Age range

4 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Faculty of medicine AinShams U, Cairo, Egypt

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About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Exclusion criteria

  • 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.

Treatment and study plan

Echocardiography

Device

a safe, painless test that uses sound waves to create moving pictures of your heart's structure and pumping function.

Other names: Echo

Electrocardiography

Device

a quick, painless test that records the electrical signals in the heart.

Other names: ECG

N-terminal pro b- type natriuretic peptide

Diagnostic Test

a protein made by our heart, examined by peripheral blood sample.

Other names: pro BNP

Primary outcomes

  1. Left Ventricular Peak Longitudinal Strain (LV-PLS)

    Time frame: 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.

Secondary outcomes

  1. Serum Pro-Brain Natriuretic Peptide (Pro-BNP) Level

    Time frame: Baseline (Day 1 , at single cross-sectional evaluation).

    Quantitative measurement of serum Pro-BNP assessed via ELISA (pg/mL) as a circulating biomarker of cardiac wall stress.

  2. Tissue Doppler LV Filling Pressure (E/e' Ratio)

    Time frame: Baseline (Day 1 , at single cross-sectional evaluation).

    Ratio of early mitral inflow velocity (E) measured by conventional Doppler to early diastolic mitral annular velocity (e') measured by tissue Doppler imaging to evaluate LV diastolic function.

  3. Serum Ceruloplasmin Level Correlation

    Time frame: Baseline (Day 1,at time of cardiac evaluation or within 6 months preceding cardiac evaluation).

    Serum ceruloplasmin levels (mg/dL) measured within 6 months of cardiac evaluation to correlate hepatic copper transport marker levels with cardiac function parameters.

  4. Frequency of Electrocardiographic (ECG) Abnormalities

    Time frame: Baseline (Day 1 , at single cross-sectional evaluation).

    Presence or absence of cardiac electrical abnormalities, including conduction delays, ST-T wave changes, and arrhythmias recorded on standard 12-lead ECG.

Sponsors and collaborators

Lead sponsor

Hebatullah Fawzy

Other

Registry information

Official study title

Assessment of Subtle Myocardial Dysfunction in Children With Wilson's Disease: A Case-Control Study

Important dates

Study start
2025
Primary completion
2026
Study completion
2026
First posted
Aug 14, 2026
Registry last updated
Aug 14, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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