Subclinical Myocardial Dysfunction in Children With Wilson's Disease
12 augusti 2026 uppdaterad av: Hebatullah Fawzy
Assessment of Subtle Myocardial Dysfunction in Children With Wilson's Disease: A Case-Control Study
Wilson's disease (WD) is one of the most common metabolic liver diseases in older children. The most frequent clinical presentation is liver disease. However, Wilson's disease (WD) is a multisystem disorder. It is concluded that four modes of cardiac manifestations in Wilson's disease (WD) include arrhythmias, cardiomyopathy, cardiac death, and autonomic dysfunction. Such possible cardiac involvement should be added to the clinical picture of Wilson's disease (WD) involving the hepatic and central nervous system(CNS).
The data on cardiac manifestations in children is very limited and only few adult studies are available.
In this study, the investigators aim to unveil subclinical cardiac dysfunction in children with Wilson's disease with apparently normal cardiac functions by conventional assessment.
Studieöversikt
Status
Aktiv, inte rekryterande
Betingelser
Intervention / Behandling
Detaljerad beskrivning
Wilson's disease (WD) is an autosomal recessive metabolic liver disorder caused by toxic copper accumulation.
While hepatic and neurological manifestations are well recognized, copper can also accumulate in cardiac tissue, potentially leading to subtle myocardial changes, arrhythmias, and heart failure.
Traditional two-dimensional (2D) echocardiography often appears normal in early stages.
This study aims to evaluate early left ventricular (LV) systolic and diastolic dysfunction in pediatric patients with Wilson's disease using speckle tracking echocardiography (STE) and tissue Doppler imaging, and to correlate these findings with serum levels of Pro-Brain Natriuretic Peptide (Pro-BNP) and ceruloplasmin.
Studietyp
Observationell
Inskrivning (Beräknad)
72
Kontakter och platser
Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.
Studieorter
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Cairo, Egypten
- Faculty of medicine AinShams U
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Giza, Egypten
- National Hepatology and Tropical Research Institute (NHTMRI)
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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
- Barn
- Vuxen
Tar emot friska volontärer
Ja
Testmetod
Icke-sannolikhetsprov
Studera befolkning
They will be divided in to 2 groups: - Group 1: Patients confirmed Wilson's disease. - Group 2: Controls.
- Patients group: Patient diagnosed as WD patients, following up in Pediatric Hepatology Clinic in NHTMRI.
According to Criteria of diagnosis based on Leipzig scoring system (11,12): Typical clinical symptoms and signs, as: Kayser-Fleischer rings, neurological symptoms, serum ceruloplasmin, Coombs-negative hemolytic anemia. Other tests: Liver biopsy, 24hr urinary Cu, gene analysis.
Beskrivning
Inclusion Criteria
- Confirmed diagnosis of Wilson's disease based on Leipzig scoring criteria (including clinical signs, Kayser-Fleischer rings, low ceruloplasmin, or genetic analysis).
- Age between 4 years and 18 years.
- Written informed consent obtained from parents or legal guardians.
Exclusion Criteria
- Children with clinical evidence of overt heart failure or known congenital heart disease.
- Children suffering from fulminant hepatitis.
- Known co-existing primary liver diseases other than Wilson's disease.
- Presence of syndromic disorders or major congenital anomalies.
Studieplan
Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.
Hur är studien utformad?
Designdetaljer
Kohorter och interventioner
Grupp / Kohort |
Intervention / Behandling |
|---|---|
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Group 1 (Cases)
Children aged 4-18 years with confirmed Wilson's disease recruited from the Pediatric Hepatology Clinic at the National Hepatology and Tropical Medicine Research Institute (NHTMRI).
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a safe, painless test that uses sound waves to create moving pictures of your heart's structure and pumping function.
Andra namn:
a quick, painless test that records the electrical signals in the heart.
Andra namn:
a protein made by our heart, examined by peripheral blood sample.
Andra namn:
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Group 2 (Controls)
Age- and sex-matched control children without chronic liver or cardiac illness recruited from the outpatient clinic.
|
a safe, painless test that uses sound waves to create moving pictures of your heart's structure and pumping function.
Andra namn:
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Vad mäter studien?
Primära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
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Left Ventricular Peak Longitudinal Strain (LV-PLS)
Tidsram: Baseline (Day 1 , at single cross-sectional evaluation).
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Left Ventricular Peak Longitudinal Strain (LV-PLS) assessed by Speckle Tracking Echocardiography (STE) to evaluate subclinical LV systolic dysfunction.
Expressed as a negative percentage (%), where a less negative percentage indicates impaired function.
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Baseline (Day 1 , at single cross-sectional evaluation).
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Sekundära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
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Serum Pro-Brain Natriuretic Peptide (Pro-BNP) Level
Tidsram: Baseline (Day 1 , at single cross-sectional evaluation).
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Quantitative measurement of serum Pro-BNP assessed via ELISA (pg/mL) as a circulating biomarker of cardiac wall stress.
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Baseline (Day 1 , at single cross-sectional evaluation).
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Tissue Doppler LV Filling Pressure (E/e' Ratio)
Tidsram: Baseline (Day 1 , at single cross-sectional evaluation).
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Ratio of early mitral inflow velocity (E) measured by conventional Doppler to early diastolic mitral annular velocity (e') measured by tissue Doppler imaging to evaluate LV diastolic function.
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Baseline (Day 1 , at single cross-sectional evaluation).
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Serum Ceruloplasmin Level Correlation
Tidsram: Baseline (Day 1,at time of cardiac evaluation or within 6 months preceding cardiac evaluation).
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Serum ceruloplasmin levels (mg/dL) measured within 6 months of cardiac evaluation to correlate hepatic copper transport marker levels with cardiac function parameters.
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Baseline (Day 1,at time of cardiac evaluation or within 6 months preceding cardiac evaluation).
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Frequency of Electrocardiographic (ECG) Abnormalities
Tidsram: Baseline (Day 1 , at single cross-sectional evaluation).
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Presence or absence of cardiac electrical abnormalities, including conduction delays, ST-T wave changes, and arrhythmias recorded on standard 12-lead ECG.
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Baseline (Day 1 , at single cross-sectional evaluation).
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Samarbetspartners och utredare
Det är här du hittar personer och organisationer som är involverade i denna studie.
Sponsor
Utredare
- Huvudutredare: Hebatullah I Fawzy, Msc Student, Faculty of medicine AinShams U,National Hepatology and Tropical Research Institute (NHTMRI)
- Studiestol: Eman M ElSayed (Assistant Professor of Pediatrics), AssProfessor, Faculty of medicine AinShams U
- Studierektor: Mona AH Khafagy (Lecturer of Pediatrics), Lecturer, Faculty of medicine AinShams U
- Studierektor: Sara M Osman (Teaching Fellow of Pediatrics), PedFellow, National Hepatology and Tropical Research Institute (NHTMRI)
Publikationer och användbara länkar
Den som ansvarar för att lägga in information om studien tillhandahåller frivilligt dessa publikationer. Dessa kan handla om allt som har med studien att göra.
Allmänna publikationer
- Wiernicka A, Dadalski M, Janczyk W, Kaminska D, Naorniakowska M, Husing-Kabar A, Schmidt H, Socha P. Early Onset of Wilson Disease: Diagnostic Challenges. J Pediatr Gastroenterol Nutr. 2017 Nov;65(5):555-560. doi: 10.1097/MPG.0000000000001700.
- European Association for the Study of the Liver. EASL-ERN Clinical Practice Guidelines on Wilson's disease. J Hepatol. 2025 Feb 22:S0168-8278(24)02706-5. doi: 10.1016/j.jhep.2024.11.007. Online ahead of print.
- European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012 Mar;56(3):671-85. doi: 10.1016/j.jhep.2011.11.007.
- https://ebm.one/en/chapter-table/scoring-system-developed-8th-international-meeting-wilson-disease-leipzig-2001
- https://doi.org/10.4236/wjcd.2019.93018
- Romuk E, Jachec W, Zbrojkiewicz E, Mroczek A, Niedziela J, Gasior M, Rozentryt P, Wojciechowska C. Ceruloplasmin, NT-proBNP, and Clinical Data as Risk Factors of Death or Heart Transplantation in a 1-Year Follow-Up of Heart Failure Patients. J Clin Med. 2020 Jan 3;9(1):137. doi: 10.3390/jcm9010137.
- Salatzki J, Mohr I, Heins J, Cerci MH, Ochs A, Paul O, Riffel J, Andre F, Hirschberg K, Muller-Hennessen M, Giannitsis E, Friedrich MG, Merle U, Weiss KH, Katus HA, Ochs M. The impact of Wilson disease on myocardial tissue and function: a cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 2021 Jun 24;23(1):84. doi: 10.1186/s12968-021-00760-1.
- Chevalier K, Benyounes N, Obadia MA, Van Der Vynckt C, Morvan E, Tibi T, Poujois A. Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death. J Inherit Metab Dis. 2021 Sep;44(5):1099-1112. doi: 10.1002/jimd.12418. Epub 2021 Aug 2.
- Quick S, Reuner U, Weidauer M, Hempel C, Heidrich FM, Mues C, Sveric KM, Ibrahim K, Reichmann H, Linke A, Speiser U. Cardiac and autonomic function in patients with Wilson's disease. Orphanet J Rare Dis. 2019 Jan 28;14(1):22. doi: 10.1186/s13023-019-1007-7.
- https://doi.org/10.21608/cupsj.2021.71046.1018
- Sanchez-Monteagudo A, Ripolles E, Berenguer M, Espinos C. Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease. Biomedicines. 2021 Aug 28;9(9):1100. doi: 10.3390/biomedicines9091100.
- Ovchinnikova EV, Garbuz MM, Ovchinnikova AA, Kumeiko VV. Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions. Int J Mol Sci. 2024 Feb 18;25(4):2402. doi: 10.3390/ijms25042402.
- https://doi.org/10.1038/s41598-024-59377-w
- Dang J, Chevalier K, Letavernier E, Tissandier C, Mouawad S, Debray D, Obadia M, Poujois A. Kidney involvement in Wilson's disease: a review of the literature. Clin Kidney J. 2024 Mar 9;17(4):sfae058. doi: 10.1093/ckj/sfae058. eCollection 2024 Apr.
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)
1 oktober 2025
Primärt slutförande (Beräknad)
30 oktober 2026
Avslutad studie (Beräknad)
30 november 2026
Studieregistreringsdatum
Först inskickad
3 augusti 2026
Först inskickad som uppfyllde QC-kriterierna
12 augusti 2026
Första postat (Faktisk)
14 augusti 2026
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
14 augusti 2026
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
12 augusti 2026
Senast verifierad
1 augusti 2026
Mer information
Termer relaterade till denna studie
Nyckelord
Ytterligare relevanta MeSH-villkor
- Hjärnsjukdomar
- Sjukdomar i centrala nervsystemet
- Sjukdomar i nervsystemet
- Hjärt-kärlsjukdomar
- Hjärtsjukdom
- Metabolism, medfödda fel
- Genetiska sjukdomar, medfödda
- Metaboliska sjukdomar
- Matsmältningssystemets sjukdomar
- Neurodegenerativa sjukdomar
- Leversjukdomar
- Rörelsestörningar
- Heredodegenerativa störningar, nervsystemet
- Ventrikulär dysfunktion
- Basala ganglia sjukdomar
- Hjärnsjukdomar, metabola, medfödda
- Hjärnsjukdomar, metaboliska
- Metallmetabolism, medfödda fel
- Medfödda, ärftliga och neonatala sjukdomar och abnormiteter
- Närings- och metabola sjukdomar
- Ventrikulär dysfunktion, vänster
- Hepatolentikulär degeneration
- Diagnostiska tekniker och procedurer
- Diagnos
- Diagnostisk avbildning
- Diagnostiska tekniker, hjärt -kärl
- Hjärtfunktionstester
- Elektrodiagnos
- Hjärtavbildningstekniker
- Ultrasonografi
- Elektrokardiografi
- Ekokardiografi
Andra studie-ID-nummer
- Wilson's disease and Heart
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