Early Detection of Cardiac Affection in Patients of Wilson's Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Cardiovascular Diseases, Wilson's Disease. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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
Detailed 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.
Primary outcome measures
- evaluate spectrum of cardiac affection by copper deposition in Wilson disease patients and detect early cardiac affection [Time frame: 1 year]
Eligibility criteria
Inclusion criteria
- All patients diagnosed with Wilson's
Exclusion criteria
- Claustrophobia
- Refusal to share information
- Heart failure
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-crossover
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT06051734 · Assiut University and Liver · Wilson's and heart