Cardiac Involvement in Wilson's Disease

Wilson's Disease Clinical Trial

— WIL-HEART  

Official title:

Cardiac Involvement in Wilson's Disease

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05493605
• Other study ID #: APS_2021_9
• Status: Recruiting
• Phase: N/A
• Start date: March 2, 2023
• Est. completion date: March 2026

Study information

• Verified date: May 2023
• Source: Fondation Ophtalmologique Adolphe de Rothschild
• Contact: Amélie YAVCHITZ
• Phone: 01 48 03 64 54
• Email: ayavhitz[@]for.paris
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 150
• Est. completion date: March 2026
• Est. primary completion date: March 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Wilson's Disease

Intervention

Procedure:
• Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope
The intervention consists of setting up a morphological and rhythmological cardiological follow-up of patients with confirmed Wilson's disease. It will require the wearing of a long-term Holter (21 days) and for some patients the installation of an implantable cardiac monitor.

Locations

Country	Name	City	State
France	Fondation Adolphe de Rothschild	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Fondation Ophtalmologique Adolphe de Rothschild

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Contrast-enhanced cardiac MRI - Day 0	Percentage of patients with abnormal contrast-enhanced cardiac MRI results	Day 0
Primary	Contrast-enhanced cardiac MRI - Day 0	Description of abnormalities (frequency and percentage)	Day 0
Primary	Transthoracic echocardiography - Day 0	Percentage of patients with abnormal transthoracic echocardiography results	Day 0
Primary	Transthoracic echocardiography - Day 0	Description of abnormalities (frequency and percentage)	Day 0
Primary	Chest computed tomography scan without contrast - 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.	Day 0
Primary	Electrocardiogram - Day 0	Percentage of patients with abnormal electrocardiogram results	Day 0
Primary	Electrocardiogram - Day 0	Description of abnormalities (frequency and percentage)	Day 0
Primary	Clinical examination - Day 0	Percentage of patients with abnormal clinical examination	Day 0
Primary	Clinical examination - Day 0	Description of abnormalities (frequency and percentage)	Day 0
Primary	Blood and urine tests - Day 0	Percentage of patients with abnormal blood and urine tests results 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	Day 0
Primary	Blood and urine tests - 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	Day 0
Primary	Lying and standing blood pressure tests - Day 0	Percentage of patients with abnormal blood pressure tests results	Day 0
Primary	Lying and standing blood pressure tests - Day 0	Description of abnormalities (frequency and percentage)	Day 0
Primary	Implantable loop recorder or ECG holter recorder- Day 21	Percentage of patients with abnormal implantable loop record (or ECG holter record) The device will record from Day 0 to Day 21 Implantable loop recorder assessment will be only performed on patients with syncope.	Day 21
Primary	Implantable loop recorder or ECG holter recorder- 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.	Day 21
Primary	Transthoracic echocardiography - Year 3	Percentage of patients with abnormal transthoracic echocardiography results	Year 3
Primary	Transthoracic echocardiography - Year 3	Description of abnormalities (frequency and percentage)	Year 3
Primary	Contrast-enhanced cardiac MRI - Year 3	Percentage of patients with abnormal contrast-enhanced cardiac MRI results	Year 3
Primary	Contrast-enhanced cardiac MRI - Year 3	Description of abnormalities (frequency and percentage)	Year 3
Primary	Chest computed tomography scan without contrast - 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.	Year 3
Primary	Electrocardiogram - Year 3	Percentage of patients with abnormal electrocardiogram results	Year 3
Primary	Electrocardiogram - Year 3	Description of abnormalities (frequency and percentage)	Year 3
Primary	Clinical examination - Year 3	Percentage of patients with abnormal clinical examination	Year 3
Primary	Clinical examination - Year 3	Description of abnormalities (frequency and percentage)	Year 3
Primary	Blood and urine tests - Year 3	Percentage of patients with abnormal blood or urine tests results 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	Year 3
Primary	Blood and urine tests - 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	Year 3
Primary	Lying and standing blood pressure tests - Year 3	Percentage of patients with abnormal blood pressure tests results	Year 3
Primary	Lying and standing blood pressure tests - Year 3	Description of abnormalities (frequency and percentage)	Year 3