Wilson's DiseaseWIL-HEARTNCT05493605
Cardiac Involvement in Wilson's Disease
A study testing Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope in people with Wilson's Disease, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Wilson's Disease
- What is being tested?
- Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 150 participants
- Where
- 1 siteFrance
- Study dates
- 2 Mar 2023to Mar 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Fondation Adolphe de Rothschild
Paris, 75019
Aurélia Poujois, 0148036656, apoujois@for.paris
About this study
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.
- Conditions
- Wilson's Disease
- Being tested
- Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope
- Medical subject headings
- Hepatolenticular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncopeProcedure or surgery
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.
| Study group | Role | What they receive |
|---|---|---|
| Cases | Other | 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). Receives: Procedure: Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope |
What is being measured
The primary outcome is the main question the study is designed to answer.
Contrast-enhanced cardiac MRI - Day 0
Percentage of patients with abnormal contrast-enhanced cardiac MRI results
Measured: Day 0
Contrast-enhanced cardiac MRI - Day 0
Description of abnormalities (frequency and percentage)
Measured: Day 0
Transthoracic echocardiography - Day 0
Percentage of patients with abnormal transthoracic echocardiography results
Measured: Day 0
Transthoracic echocardiography - Day 0
Description of abnormalities (frequency and percentage)
Measured: 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.
Measured: Day 0
Electrocardiogram - Day 0
Percentage of patients with abnormal electrocardiogram results
Measured: Day 0
Electrocardiogram - Day 0
Description of abnormalities (frequency and percentage)
Measured: Day 0
Clinical examination - Day 0
Percentage of patients with abnormal clinical examination
Measured: Day 0
Clinical examination - Day 0
Description of abnormalities (frequency and percentage)
Measured: 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
Measured: 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
Measured: Day 0
Lying and standing blood pressure tests - Day 0
Percentage of patients with abnormal blood pressure tests results
Measured: Day 0
Lying and standing blood pressure tests - Day 0
Description of abnormalities (frequency and percentage)
Measured: 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.
Measured: 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.
Measured: Day 21
Transthoracic echocardiography - Year 3
Percentage of patients with abnormal transthoracic echocardiography results
Measured: Year 3
Transthoracic echocardiography - Year 3
Description of abnormalities (frequency and percentage)
Measured: Year 3
Contrast-enhanced cardiac MRI - Year 3
Percentage of patients with abnormal contrast-enhanced cardiac MRI results
Measured: Year 3
Contrast-enhanced cardiac MRI - Year 3
Description of abnormalities (frequency and percentage)
Measured: 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.
Measured: Year 3
Electrocardiogram - Year 3
Percentage of patients with abnormal electrocardiogram results
Measured: Year 3
Electrocardiogram - Year 3
Description of abnormalities (frequency and percentage)
Measured: Year 3
Clinical examination - Year 3
Percentage of patients with abnormal clinical examination
Measured: Year 3
Clinical examination - Year 3
Description of abnormalities (frequency and percentage)
Measured: 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
Measured: 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
Measured: Year 3
Lying and standing blood pressure tests - Year 3
Percentage of patients with abnormal blood pressure tests results
Measured: Year 3
Lying and standing blood pressure tests - Year 3
Description of abnormalities (frequency and percentage)
Measured: Year 3
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Aug 2022
- Study start2 Mar 2023
- Primary completionMar 2029 (estimated)
- Study completionMar 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Wilson's DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- All patients with confirmed Wilson Disease presenting for consultation or hospitalization for their follow-up or at the time of diagnosis will be offered to participate in the study. Patients who have already benefited from a cardiac assessment with installation of an implantable Holter ECG as part of the treatment may be included retrospectively
- Masking
- None (open label)
- Enrolment
- 150 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Sponsor type
- Research network
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05493605
- Sponsor's protocol ID
- APS_2021_9
- Acronym
- WIL-HEART
- Status last verified
- Sep 2026
- First submitted
- 21 Jul 2022
- Last updated
- 1 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cardiac Involvement in Wilson's Disease
- ClinicalTrials.gov ID
- NCT05493605
- Acronym / sponsor ID
- WIL-HEART / APS_2021_9
- Conditions
- Wilson's Disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Fondation Ophtalmologique Adolphe de RothschildResearch network
- Study start
- 2 Mar 2023 (actual)
- Primary completion
- Mar 2029 (estimated)
- Study completion
- Mar 2029 (estimated)
- First posted
- 9 Aug 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- All patients with confirmed Wilson Disease presenting for consultation or hospitalization for their follow-up or at the time of diagnosis will be offered to participate in the study. Patients who have already benefited from a cardiac assessment with installation of an implantable Holter ECG as part of the treatment may be included retrospectively
| Arm | Type | Receives |
|---|---|---|
| Cases | Other | Procedure: Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncopeThe 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). |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncopeThe 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. | Procedure or surgery | Cases |
Primary outcome
Contrast-enhanced cardiac MRI - Day 0
Time frame: Day 0
Percentage of patients with abnormal contrast-enhanced cardiac MRI results
Contrast-enhanced cardiac MRI - Day 0
Time frame: Day 0
Description of abnormalities (frequency and percentage)
Transthoracic echocardiography - Day 0
Time frame: Day 0
Percentage of patients with abnormal transthoracic echocardiography results
Transthoracic echocardiography - Day 0
Time frame: Day 0
Description of abnormalities (frequency and percentage)
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.
Electrocardiogram - Day 0
Time frame: Day 0
Percentage of patients with abnormal electrocardiogram results
Electrocardiogram - Day 0
Time frame: Day 0
Description of abnormalities (frequency and percentage)
Clinical examination - Day 0
Time frame: Day 0
Percentage of patients with abnormal clinical examination
Clinical examination - Day 0
Time frame: Day 0
Description of abnormalities (frequency and percentage)
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
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
Lying and standing blood pressure tests - Day 0
Time frame: Day 0
Percentage of patients with abnormal blood pressure tests results
Lying and standing blood pressure tests - Day 0
Time frame: Day 0
Description of abnormalities (frequency and percentage)
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.
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.
Transthoracic echocardiography - Year 3
Time frame: Year 3
Percentage of patients with abnormal transthoracic echocardiography results
Transthoracic echocardiography - Year 3
Time frame: Year 3
Description of abnormalities (frequency and percentage)
Contrast-enhanced cardiac MRI - Year 3
Time frame: Year 3
Percentage of patients with abnormal contrast-enhanced cardiac MRI results
Contrast-enhanced cardiac MRI - Year 3
Time frame: Year 3
Description of abnormalities (frequency and percentage)
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.
Electrocardiogram - Year 3
Time frame: Year 3
Percentage of patients with abnormal electrocardiogram results
Electrocardiogram - Year 3
Time frame: Year 3
Description of abnormalities (frequency and percentage)
Clinical examination - Year 3
Time frame: Year 3
Percentage of patients with abnormal clinical examination
Clinical examination - Year 3
Time frame: Year 3
Description of abnormalities (frequency and percentage)
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
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
Lying and standing blood pressure tests - Year 3
Time frame: Year 3
Percentage of patients with abnormal blood pressure tests results
Lying and standing blood pressure tests - Year 3
Time frame: Year 3
Description of abnormalities (frequency and percentage)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Oct 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope in people with Wilson's Disease, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 1 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Amélie YAVCHITZ (01 48 03 64 54, ayavhitz@for.paris), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Contrast-enhanced cardiac MRI - Day 0 (time frame: Day 0). The study lists 28 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Oct 2026.