Ignite Creation Date:
2024-05-06 @ 7:33 PM
Last Modification Date:
2024-10-26 @ 3:09 PM
Study NCT ID:
NCT06051734
Status:
NOT_YET_RECRUITING
Last Update Posted:
2023-09-25
First Post:
2023-09-16
Brief Title:
Early Detection of Cardiac Affection in Patients of Wilsons Disease
Sponsor:
Assiut University
Organization:
Assiut University
Study Overview
Official Title:
Early Detection of Cardiac Affection in Patients of Wilsons Disease
Status:
NOT_YET_RECRUITING
Status Verified Date:
2023-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
Wilsons
Brief 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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| Wilsons and heart | REGISTRY | Wilsons and cardiac affection | None |