Skip to main content
OpenTrials
Recruiting

NCT Number: NCT05493605

Cardiac Involvement in Wilson's Disease

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Wilson's Disease Basal Ganglia Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Diseases Genetic Diseases, Inborn Hepatolenticular Degeneration Heredodegenerative Disorders, Nervous System Liver Diseases Metabolic Diseases Metabolism, Inborn Errors Metal Metabolism, Inborn Errors Movement Disorders Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Fondation Adolphe de Rothschild

Paris, 75019, France

Location status: Recruiting

Location contact

Aurélia Poujois

CONTACT

[email protected]

0148036656

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope

Procedure

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.

Primary outcomes

  1. Contrast-enhanced cardiac MRI - Day 0

    Time frame: Day 0

    Percentage of patients with abnormal contrast-enhanced cardiac MRI results

  2. Contrast-enhanced cardiac MRI - Day 0

    Time frame: Day 0

    Description of abnormalities (frequency and percentage)

  3. Transthoracic echocardiography - Day 0

    Time frame: Day 0

    Percentage of patients with abnormal transthoracic echocardiography results

  4. Transthoracic echocardiography - Day 0

    Time frame: Day 0

    Description of abnormalities (frequency and percentage)

  5. Chest computed tomography scan without contrast - Day 0

    Time frame: 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.

  6. Electrocardiogram - Day 0

    Time frame: Day 0

    Percentage of patients with abnormal electrocardiogram results

  7. Electrocardiogram - Day 0

    Time frame: Day 0

    Description of abnormalities (frequency and percentage)

  8. Clinical examination - Day 0

    Time frame: Day 0

    Percentage of patients with abnormal clinical examination

  9. Clinical examination - Day 0

    Time frame: Day 0

    Description of abnormalities (frequency and percentage)

  10. Blood and urine tests - Day 0

    Time frame: 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

  11. Blood and urine tests - Day 0

    Time frame: 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

  12. Lying and standing blood pressure tests - Day 0

    Time frame: Day 0

    Percentage of patients with abnormal blood pressure tests results

  13. Lying and standing blood pressure tests - Day 0

    Time frame: Day 0

    Description of abnormalities (frequency and percentage)

  14. Implantable loop recorder or ECG holter recorder- Day 21

    Time frame: 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.

  15. Implantable loop recorder or ECG holter recorder- Day 21

    Time frame: 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.

  16. Transthoracic echocardiography - Year 3

    Time frame: Year 3

    Percentage of patients with abnormal transthoracic echocardiography results

  17. Transthoracic echocardiography - Year 3

    Time frame: Year 3

    Description of abnormalities (frequency and percentage)

  18. Contrast-enhanced cardiac MRI - Year 3

    Time frame: Year 3

    Percentage of patients with abnormal contrast-enhanced cardiac MRI results

  19. Contrast-enhanced cardiac MRI - Year 3

    Time frame: Year 3

    Description of abnormalities (frequency and percentage)

  20. Chest computed tomography scan without contrast - Year 3

    Time frame: 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.

  21. Electrocardiogram - Year 3

    Time frame: Year 3

    Percentage of patients with abnormal electrocardiogram results

  22. Electrocardiogram - Year 3

    Time frame: Year 3

    Description of abnormalities (frequency and percentage)

  23. Clinical examination - Year 3

    Time frame: Year 3

    Percentage of patients with abnormal clinical examination

  24. Clinical examination - Year 3

    Time frame: Year 3

    Description of abnormalities (frequency and percentage)

  25. Blood and urine tests - Year 3

    Time frame: 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

  26. Blood and urine tests - Year 3

    Time frame: 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

  27. Lying and standing blood pressure tests - Year 3

    Time frame: Year 3

    Percentage of patients with abnormal blood pressure tests results

  28. Lying and standing blood pressure tests - Year 3

    Time frame: Year 3

    Description of abnormalities (frequency and percentage)

Study contacts

Contact information is provided by the study sponsor or research team.

Amélie YAVCHITZ

CONTACT

[email protected]

01 48 03 64 54

Aurélia POUJOIS

CONTACT

[email protected]

01 48 30 66 56

Sponsors and collaborators

Lead sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Network

Registry information

Acronym: WIL-HEART

Important dates

Study start
2023
Primary completion
2026
Study completion
2026
First posted
Aug 9, 2022
Registry last updated
Dec 17, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.