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

September 21, 2023 updated by: Salma Taha, Assiut University
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

Study Overview

Status

Not yet recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

50

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Probability Sample

Study Population

All patients with Wilson's disease attending outpatient clinic

Description

Inclusion Criteria:

  • All patients diagnosed with Wilson's

Exclusion Criteria:

  • Claustrophobia
  • Refusal to share information
  • Heart failure

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
evaluate spectrum of cardiac affection by copper deposition in Wilson disease patients and detect early cardiac affection
Time Frame: 1 year
Evaluate the effect of copper on EF and diastolic function of LV and RV
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Assiut University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

October 1, 2023

Primary Completion (Estimated)

September 30, 2024

Study Completion (Estimated)

September 30, 2029

Study Registration Dates

First Submitted

September 16, 2023

First Submitted That Met QC Criteria

September 21, 2023

First Posted (Actual)

September 25, 2023

Study Record Updates

Last Update Posted (Actual)

September 25, 2023

Last Update Submitted That Met QC Criteria

September 21, 2023

Last Verified

September 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Assiut University and Liver
  • Wilson's and heart (Registry Identifier: Wilson's and cardiac affection)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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