Early Detection of Cardiac Affection in Patients of Wilson's Disease

Cardiovascular Diseases Clinical Trial

— Wilson's  

Official title:

Early Detection of Cardiac Affection in Patients of Wilson's Disease

Clinical Trial Details — Status: Not yet recruiting

Administrative data

• NCT number: NCT06051734
• Other study ID #: Assiut University and Liver
• Secondary ID: Wilson's and hea
• Status: Not yet recruiting
• Start date: October 1, 2023
• Est. completion date: September 30, 2029

Study information

• Verified date: September 2023
• Source: Assiut University
• Contact: Salma Taha, Ass.Professor
• Phone: +201003329108
• Email: esmaeil.salma[@]gmail.com
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

Wilson disease (WD) is a rare autosomal recessive disorder caused by a genetic defect in ATP7B resulting in limited excretion of excess copper into the bile Pathological copper accumulation occurs in the entire body, with the liver and the brain being primarily affected

Description:

Wilson disease (WD) is a rare autosomal recessive disorder caused by a genetic defect in ATP7B resulting in limited excretion of excess copper into the bile. Pathological copper accumulation occurs in the entire body, with the liver and the brain being primarily affected. The pathological copper accumulation may induce toxic injury, including mitochondrial dysfunction or apoptosis . Exhausted hepatic copper storage capacity causes copper release into the bloodstream thus affecting other organs, in particular the brain. The neurotoxicity of copper primarily damages astrocytes, leading to a regional destruction of the blood-brain barrier with subsequent neurological symptoms. Asymptomatic cardiac arrhythmias are quite common in WD. Cardiomyopathy, autonomic dysfunction, and cardiac deaths due to copper accumulation in cardiac tissue have occasionally been reported in WD. Copper accumulation induces toxic effects in cardiomyocytes and the clinical consequences of these myocardial accumulations are poorly understood. Previous studies have mainly reported mild cardiac abnormalities including concentric hypertrophy, impaired left ventricular (LV) relaxation and minor electrocardiographic changes, mainly reported in the times before appropriate treatment was available. A longitudinal cohort study demonstrated a higher incidence of heart failure (HF) and atrial fibrillation in WD patients, indicating a potential adverse effect of copper on the heart. Cardiovascular magnetic resonance (CMR) allows for a non-invasive tissue characterization, specifically visualizing edema, fibrosis, and pathological infiltrations. CMR has been successfully used for diagnosis and therapy monitoring in other storage diseases such as myocardial iron overload and amyloidosis. Survival in patients with thalassemia major improved significantly after the introduction of CMR for identifying myocardial iron accumulation. Imaging regional fibrosis using CMR late gadolinium enhancement (LGE) and quantitative measurement of extracellular volume (ECV) provide independent prognostic markers in cardiac amyloidosis.

Recruitment information / eligibility

• Status: Not yet recruiting
• Enrollment: 50
• Est. completion date: September 30, 2029
• Est. primary completion date: September 30, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• All patients diagnosed with Wilson's

Exclusion Criteria:

• Claustrophobia

• Refusal to share information

• Heart failure

Related Conditions & MeSH terms

• Cardiovascular Diseases
• Wilson's Disease

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Assiut University

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	evaluate spectrum of cardiac affection by copper deposition in Wilson disease patients and detect early cardiac affection	Evaluate the effect of copper on EF and diastolic function of LV and RV	1 year