Mitochondrial Bioenergetics in Wilson Disease
Research type
Research Study
Full title
Peripheral blood mononuclear cells (PBMCs) bioenergetic profiling in children with Wilson disease (WD).
IRAS ID
366900
Contact name
Anil Dhawan
Contact email
Sponsor organisation
The R&D Office
Clinicaltrials.gov Identifier
N/A, N/A
Duration of Study in the UK
0 years, 11 months, 27 days
Research summary
Wilson disease (WD) is a rare inherited condition in which the body cannot properly remove excess copper. This leads to copper building up over time, particularly in the liver and brain, and can cause serious illness in children. Monitoring WD is challenging because current blood and urine tests do not reliably show how much damage is occurring inside cells, and liver biopsy, although informative, is invasive and not suitable for repeated monitoring in children.
Copper damages cells mainly by affecting mitochondria, which are responsible for producing energy. When mitochondria are not functioning properly, cells are more likely to become injured, leading to liver damage. At present, there is no simple, noninvasive test that directly measures this type of cell damage in children with WD.
This study aims to explore whether a blood-based test can be used to assess mitochondrial function as a marker of disease activity. The research will involve collecting small blood samples from children with WD and from healthy children for comparison. The study will focus on a group of blood cells called peripheral blood mononuclear cells (PBMCs), which circulate throughout the body and can reflect overall cellular energy function.
The results of this study may help determine whether these blood cells can be used as a “liquid biopsy” to monitor disease activity and response to treatment in WD. This could reduce the need for invasive tests in the future. This study is exploratory and will not directly change patient care, but it may inform future research aimed at improving monitoring and treatment of children with WD.REC name
London - Bloomsbury Research Ethics Committee
REC reference
26/LO/0439
Date of REC Opinion
10 Jul 2026
REC opinion
Further Information Favourable Opinion