Cardiac Involvement in Wilson's Disease

Not Applicable

Recruiting

• Conditions: Wilson's Disease
• Interventions: Procedure: Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope

• Registration Number: NCT05493605
• Lead Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Brief Summary

Heart damage by copper accumulation has been reported in Wilson's Disease. However, the disease epidemiology is still poorly understood. A number of studies on pediatric populations have not shown any significant cardiac involvement apart from early dysautonomia. This could suggest that the clinical manifestations related to the copper accumulation in the heart appears with the duration of the disease. Case-control studies on adult populations have highlighted various electrocardiographic (ECG) abnormalities more frequent in patients with Wilson's Disease than in healthy volunteers, but all these studies involved small number of patients (maximum 60). The hypothesis is that there is cardiac involvement in Wilson's Disease, requiring screening, follow-up and appropriate support.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2022-07-21
• Study First Submitted QC: 2022-08-08
• Study First Posted: 2022-08-09
• Study Start: 2023-03-02
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-03
• Last Update Posted: 2024-06-04
• Primary Completion: 2026-03
• Study Completion: 2026-03

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

• Adult patient with Wilson's disease confirmed by a Leipzig score ≥ 4
• Express consent to participate in the study by the patient or legal guardian in the case of patients under guardianship or by the patient assisted by his curator in the case of patients under guardianship
• Member of or beneficiary of a Social Security scheme

Exclusion Criteria

• Absolute or relative contraindication to MRI or contrast media
• Pregnant, parturient or breast-feeding women: a urine pregnancy test will be carried out in women of childbearing age
• Patient with hepatic decompensation (Child-Pugh score stage C)
• Patient in neuro-psychiatric decompensation

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Cases	Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope	The intervention consists in setting up a morphological and rhythmological cardiological follow-up patients with confirmed Wilson disease. It will require the wearing of a long Holter duration (21 days) and for some patients the installation of an implantable cardiac monitor.The long-time ECG holter is used to record heart rhythm for 21 days and detect possible arrhythmias (accelerations of the heart) or conduction disorders (slowdowns of the heart).

Primary Outcome Measures

Name	Time	Method
Electrocardiogram - Day 0	Day 0	Description of abnormalities (frequency and percentage)
Contrast-enhanced cardiac MRI - Year 3	Year 3	Description of abnormalities (frequency and percentage)
Electrocardiogram - Year 3	Year 3	Description of abnormalities (frequency and percentage)
Transthoracic echocardiography - Day 0	Day 0	Description of abnormalities (frequency and percentage)
Implantable loop recorder or ECG holter recorder- Day 21	Day 21	Description of abnormalities (frequency and percentage) The device will record from Day 0 to Day 21 Implantable loop recorder assessment will be only performed on patients with syncope.
Chest computed tomography scan without contrast - Day 0	Day 0	Percentage of patients with abnormal coronary artery calcium score; Calcium score : The higher the coronary calcium score, the greater the cardiovascular risk. A score of 0 (min) means that no calcium is seen in the heart. A score greater than 300 is a sign of very high to severe disease.
Lying and standing blood pressure tests - Year 3	Year 3	Description of abnormalities (frequency and percentage)
Contrast-enhanced cardiac MRI - Day 0	Day 0	Description of abnormalities (frequency and percentage)
Clinical examination - Day 0	Day 0	Description of abnormalities (frequency and percentage)
Blood and urine tests - Day 0	Day 0	Description of abnormalities (frequency and percentage) Blood tests performed : lipid profile, glycosylated hemoglobin (HbA1C), cardiac enzymes (troponin C, NT-proBNP), ultra-sensitive C-reactive protein, sodium level, potassium level, urea and creatinine clearance, TSH, fibrinogen Urine test performed : proteinuria
Lying and standing blood pressure tests - Day 0	Day 0	Description of abnormalities (frequency and percentage)
Transthoracic echocardiography - Year 3	Year 3	Description of abnormalities (frequency and percentage)
Chest computed tomography scan without contrast - Year 3	Year 3	Percentage of patients with abnormal coronary artery calcium score; Calcium score : The higher the coronary calcium score, the greater the cardiovascular risk. A score of 0 (min) means that no calcium is seen in the heart. A score greater than 300 is a sign of very high to severe disease.
Clinical examination - Year 3	Year 3	Description of abnormalities (frequency and percentage)
Blood and urine tests - Year 3	Year 3	Description of abnormalities (frequency and percentage) Blood tests performed : lipid profile, glycosylated hemoglobin (HbA1C), cardiac enzymes (troponin C, NT-proBNP), ultra-sensitive C-reactive protein, sodium level, potassium level, urea and creatinine clearance, TSH, fibrinogen Urine test performed : proteinuria

Trial Locations

Locations (1)

Fondation Adolphe de Rothschild; 🇫🇷 Paris, France