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Hjärtinblandning i Wilsons sjukdom (WIL-HEART)

30 september 2026 uppdaterad av: Fondation Ophtalmologique Adolphe de Rothschild

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.

Studieöversikt

Status

Rekrytering

Betingelser

Intervention / Behandling

Studietyp

Interventionell

Inskrivning (Beräknad)

150

Fas

  • Inte tillämpbar

Kontakter och platser

Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.

Studiekontakt

Studera Kontakt Backup

Studieorter

  • Frankrike
      • Paris, Frankrike, 75019
        • Rekrytering
        • Fondation Adolphe de Rothschild
        • Kontakt:

Deltagandekriterier

Forskare letar efter personer som passar en viss beskrivning, så kallade behörighetskriterier. Några exempel på dessa kriterier är en persons allmänna hälsotillstånd eller tidigare behandlingar.

Urvalskriterier

Åldrar som är berättigade till studier

18 år och äldre (Vuxen, Äldre vuxen)

Tar emot friska volontärer

Nej

Kön som är behöriga för studier

Allt

Beskrivning

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

Studieplan

Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.

Hur är studien utformad?

Designdetaljer

  • Primärt syfte: Övrig
  • Tilldelning: N/A
  • Interventionsmodell: Enskild gruppuppgift
  • Maskning: Ingen (Open Label)

Vapen och interventioner

Deltagargrupp / Arm
Intervention / Behandling
Övrig: 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).
Procedur: 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.

Vad mäter studien?

Primära resultatmått

Resultatmått
Åtgärdsbeskrivning
Tidsram
Contrast-enhanced cardiac MRI - Day 0
Tidsram: Day 0

Percentage of patients with abnormal contrast-enhanced cardiac MRI results
Day 0
Contrast-enhanced cardiac MRI - Day 0
Tidsram: Day 0

Description of abnormalities (frequency and percentage)
Day 0
Transthoracic echocardiography - Day 0
Tidsram: Day 0

Percentage of patients with abnormal transthoracic echocardiography results
Day 0
Transthoracic echocardiography - Day 0
Tidsram: Day 0

Description of abnormalities (frequency and percentage)
Day 0
Chest computed tomography scan without contrast - Day 0
Tidsram: 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
Tidsram: Day 0

Percentage of patients with abnormal electrocardiogram results
Day 0
Electrocardiogram - Day 0
Tidsram: Day 0

Description of abnormalities (frequency and percentage)
Day 0
Clinical examination - Day 0
Tidsram: Day 0

Percentage of patients with abnormal clinical examination
Day 0
Clinical examination - Day 0
Tidsram: Day 0

Description of abnormalities (frequency and percentage)
Day 0
Blood and urine tests - Day 0
Tidsram: 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
Tidsram: 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
Tidsram: Day 0

Percentage of patients with abnormal blood pressure tests results
Day 0
Lying and standing blood pressure tests - Day 0
Tidsram: Day 0

Description of abnormalities (frequency and percentage)
Day 0
Implantable loop recorder or ECG holter recorder- Day 21
Tidsram: 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
Tidsram: 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
Tidsram: Year 3

Percentage of patients with abnormal transthoracic echocardiography results
Year 3
Transthoracic echocardiography - Year 3
Tidsram: Year 3

Description of abnormalities (frequency and percentage)
Year 3
Contrast-enhanced cardiac MRI - Year 3
Tidsram: Year 3

Percentage of patients with abnormal contrast-enhanced cardiac MRI results
Year 3
Contrast-enhanced cardiac MRI - Year 3
Tidsram: Year 3

Description of abnormalities (frequency and percentage)
Year 3
Chest computed tomography scan without contrast - Year 3
Tidsram: 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
Tidsram: Year 3

Percentage of patients with abnormal electrocardiogram results
Year 3
Electrocardiogram - Year 3
Tidsram: Year 3

Description of abnormalities (frequency and percentage)
Year 3
Clinical examination - Year 3
Tidsram: Year 3

Percentage of patients with abnormal clinical examination
Year 3
Clinical examination - Year 3
Tidsram: Year 3

Description of abnormalities (frequency and percentage)
Year 3
Blood and urine tests - Year 3
Tidsram: 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
Tidsram: 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
Tidsram: Year 3

Percentage of patients with abnormal blood pressure tests results
Year 3
Lying and standing blood pressure tests - Year 3
Tidsram: Year 3

Description of abnormalities (frequency and percentage)
Year 3

Samarbetspartners och utredare

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Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Studieavstämningsdatum

Dessa datum spårar framstegen för inlämningar av studieposter och sammanfattande resultat till ClinicalTrials.gov. Studieposter och rapporterade resultat granskas av National Library of Medicine (NLM) för att säkerställa att de uppfyller specifika kvalitetskontrollstandarder innan de publiceras på den offentliga webbplatsen.

Studera stora datum

Studiestart (Faktisk)

2 mars 2023

Primärt slutförande (Beräknad)

1 mars 2029

Avslutad studie (Beräknad)

1 mars 2029

Studieregistreringsdatum

Först inskickad

21 juli 2022

Först inskickad som uppfyllde QC-kriterierna

8 augusti 2022

Första postat (Faktisk)

9 augusti 2022

Uppdateringar av studier

Senaste uppdatering publicerad (Faktisk)

1 oktober 2026

Senaste inskickade uppdateringen som uppfyllde QC-kriterierna

30 september 2026

Senast verifierad

1 september 2026

Mer information

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Ytterligare relevanta MeSH-villkor

Andra studie-ID-nummer

  • APS_2021_9

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