Cardiac Involvement in Wilson's Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope.
- Who it may be relevant to
- Registry conditions: Wilson's Disease. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- 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.
Primary outcome measures
- Contrast-enhanced cardiac MRI - Day 0 [Time frame: Day 0]
- Contrast-enhanced cardiac MRI - Day 0 [Time frame: Day 0]
- Transthoracic echocardiography - Day 0 [Time frame: Day 0]
- Transthoracic echocardiography - Day 0 [Time frame: Day 0]
- Chest computed tomography scan without contrast - Day 0 [Time frame: Day 0]
- Electrocardiogram - Day 0 [Time frame: Day 0]
- Electrocardiogram - Day 0 [Time frame: Day 0]
- Clinical examination - Day 0 [Time frame: Day 0]
- Clinical examination - Day 0 [Time frame: Day 0]
- Blood and urine tests - Day 0 [Time frame: Day 0]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Other
Study locations
France · 1 center
- Fondation Adolphe de Rothschild — Paris
Identifiers
NCT: NCT05493605 · APS_2021_9