Clinical trial NCT05493605: Cardiac Involvement in Wilson's Disease
Official title: Cardiac Involvement in Wilson's Disease
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Wilson's Disease
Lead sponsor: Fondation Ophtalmologique Adolphe de Rothschild
Sponsor class: NETWORK
First posted: 2022-08-09
Enrollment: 150
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Intervention 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
Primary purpose: OTHER

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.


Eligibility criteria: 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

Primary outcomes:
measure: Contrast-enhanced cardiac MRI - Day 0
timeFrame: Day 0
measure: Contrast-enhanced cardiac MRI - Day 0
timeFrame: Day 0
measure: Transthoracic echocardiography - Day 0
timeFrame: Day 0
measure: Transthoracic echocardiography - Day 0
timeFrame: Day 0
measure: Chest computed tomography scan without contrast - Day 0
timeFrame: Day 0
measure: Electrocardiogram - Day 0
timeFrame: Day 0
measure: Electrocardiogram - Day 0
timeFrame: Day 0
measure: Clinical examination - Day 0
timeFrame: Day 0
measure: Clinical examination - Day 0
timeFrame: Day 0
measure: Blood and urine tests - Day 0
timeFrame: Day 0
measure: Blood and urine tests - Day 0
timeFrame: Day 0
measure: Lying and standing blood pressure tests - Day 0
timeFrame: Day 0
measure: Lying and standing blood pressure tests - Day 0
timeFrame: Day 0
measure: Implantable loop recorder or ECG holter recorder- Day 21
timeFrame: Day 21
measure: Implantable loop recorder or ECG holter recorder- Day 21
timeFrame: Day 21
measure: Transthoracic echocardiography - Year 3
timeFrame: Year 3
measure: Transthoracic echocardiography - Year 3
timeFrame: Year 3
measure: Contrast-enhanced cardiac MRI - Year 3
timeFrame: Year 3
measure: Contrast-enhanced cardiac MRI - Year 3
timeFrame: Year 3
measure: Chest computed tomography scan without contrast - Year 3
timeFrame: Year 3
measure: Electrocardiogram - Year 3
timeFrame: Year 3
measure: Electrocardiogram - Year 3
timeFrame: Year 3
measure: Clinical examination - Year 3
timeFrame: Year 3
measure: Clinical examination - Year 3
timeFrame: Year 3
measure: Blood and urine tests - Year 3
timeFrame: Year 3
measure: Blood and urine tests - Year 3
timeFrame: Year 3
measure: Lying and standing blood pressure tests - Year 3
timeFrame: Year 3
measure: Lying and standing blood pressure tests - Year 3
timeFrame: Year 3
Secondary outcomes:
Other outcomes:
Locations:
city: Paris
country: France
facility: Fondation Adolphe de Rothschild
Study officials:
References: