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Hjerteinvolvering i Wilsons sykdom (WIL-HEART)

30. september 2026 oppdatert 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.

Studieoversikt

Status

Rekruttering

Forhold

Intervensjon / Behandling

Studietype

Intervensjonell

Registrering (Antatt)

150

Fase

  • Ikke aktuelt

Kontakter og plasseringer

Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.

Studiekontakt

Studer Kontakt Backup

Studiesteder

  • Frankrike
      • Paris, Frankrike, 75019
        • Rekruttering
        • Fondation Adolphe de Rothschild
        • Ta kontakt med:

Deltakelseskriterier

Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.

Kvalifikasjonskriterier

Alder som er kvalifisert for studier

18 år og eldre (Voksen, Eldre voksen)

Tar imot friske frivillige

Nei

Kjønn som er kvalifisert for studier

Alle

Beskrivelse

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

Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.

Hvordan er studiet utformet?

Designdetaljer

  • Primært formål: Annen
  • Tildeling: N/A
  • Intervensjonsmodell: Enkeltgruppeoppdrag
  • Masking: Ingen (Open Label)

Våpen og intervensjoner

Deltakergruppe / Arm
Intervensjon / Behandling
Annen: 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).
Fremgangsmåte: 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.

Hva måler studien?

Primære resultatmål

Resultatmål
Tiltaksbeskrivelse
Tidsramme
Contrast-enhanced cardiac MRI - Day 0
Tidsramme: Day 0

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Description of abnormalities (frequency and percentage)
Year 3

Samarbeidspartnere og etterforskere

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Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Studierekorddatoer

Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.

Studer hoveddatoer

Studiestart (Faktiske)

2. mars 2023

Primær fullføring (Antatt)

1. mars 2029

Studiet fullført (Antatt)

1. mars 2029

Datoer for studieregistrering

Først innsendt

21. juli 2022

Først innsendt som oppfylte QC-kriteriene

8. august 2022

Først lagt ut (Faktiske)

9. august 2022

Oppdateringer av studieposter

Sist oppdatering lagt ut (Faktiske)

1. oktober 2026

Siste oppdatering sendt inn som oppfylte QC-kriteriene

30. september 2026

Sist bekreftet

1. september 2026

Mer informasjon

Begreper knyttet til denne studien

Ytterligere relevante MeSH-vilkår

Andre studie-ID-numre

  • APS_2021_9

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Nei

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