Cardiac Involvement in Wilson's Disease (WIL-HEART)

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.

Study Overview

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

• Study Type: Interventional
• Enrollment (Estimated): 150
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Amélie YAVCHITZ; Phone Number: 01 48 03 64 54; Email: ayavhitz@for.paris
• Study Contact Backup: Name: Aurélia POUJOIS; Phone Number: 01 48 30 66 56; Email: apoujois@for.paris

Study Locations

• France
  • Paris, France, 75019
    • Recruiting
    • Fondation Adolphe de Rothschild
    • Contact: Aurélia Poujois; Phone Number: 0148036656; Email: apoujois@for.paris

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Other: Cases; 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).

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Contrast-enhanced cardiac MRI - Day 0	Percentage of patients with abnormal contrast-enhanced cardiac MRI results	Day 0
Contrast-enhanced cardiac MRI - Day 0	Description of abnormalities (frequency and percentage)	Day 0
Transthoracic echocardiography - Day 0	Percentage of patients with abnormal transthoracic echocardiography results	Day 0
Transthoracic echocardiography - Day 0	Description of abnormalities (frequency and percentage)	Day 0
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
Electrocardiogram - Day 0	Percentage of patients with abnormal electrocardiogram results	Day 0
Electrocardiogram - Day 0	Description of abnormalities (frequency and percentage)	Day 0
Clinical examination - Day 0	Percentage of patients with abnormal clinical examination	Day 0
Clinical examination - Day 0	Description of abnormalities (frequency and percentage)	Day 0
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
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
Lying and standing blood pressure tests - Day 0	Percentage of patients with abnormal blood pressure tests results	Day 0
Lying and standing blood pressure tests - Day 0	Description of abnormalities (frequency and percentage)	Day 0
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
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
Transthoracic echocardiography - Year 3	Percentage of patients with abnormal transthoracic echocardiography results	Year 3
Transthoracic echocardiography - Year 3	Description of abnormalities (frequency and percentage)	Year 3
Contrast-enhanced cardiac MRI - Year 3	Percentage of patients with abnormal contrast-enhanced cardiac MRI results	Year 3
Contrast-enhanced cardiac MRI - Year 3	Description of abnormalities (frequency and percentage)	Year 3
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
Electrocardiogram - Year 3	Percentage of patients with abnormal electrocardiogram results	Year 3
Electrocardiogram - Year 3	Description of abnormalities (frequency and percentage)	Year 3
Clinical examination - Year 3	Percentage of patients with abnormal clinical examination	Year 3
Clinical examination - Year 3	Description of abnormalities (frequency and percentage)	Year 3
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
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
Lying and standing blood pressure tests - Year 3	Percentage of patients with abnormal blood pressure tests results	Year 3
Lying and standing blood pressure tests - Year 3	Description of abnormalities (frequency and percentage)	Year 3

Collaborators and Investigators

• Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Study record dates

Study Major Dates

• Study Start (Actual): March 2, 2023
• Primary Completion (Estimated): March 1, 2026
• Study Completion (Estimated): March 1, 2026

Study Registration Dates

• First Submitted: July 21, 2022
• First Submitted That Met QC Criteria: August 8, 2022
• First Posted (Actual): August 9, 2022

Study Record Updates

• Last Update Posted (Estimated): December 17, 2025
• Last Update Submitted That Met QC Criteria: December 9, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Digestive System Diseases; Neurodegenerative Diseases; Liver Diseases; Movement Disorders; Heredodegenerative Disorders, Nervous System; Basal Ganglia Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Metal Metabolism, Inborn Errors; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hepatolenticular Degeneration
• Other Study ID Numbers: APS_2021_9

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No