The ToNIC Study: TOwards New Insights into Citrin deficiency
Research type
Research Study
Full title
Multi-omics study in citrin deficiency for characterization of disease-specific metabolites and biomarker identification
IRAS ID
328316
Contact name
Saikat Santra
Contact email
Sponsor organisation
Birmingham Women's and Children's NHS Foundation Trust
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Citrin deficiency (CD) is an inherited metabolic condition caused by mutations in the SLC25A13 gene, which encodes a protein called citrin. How citrin deficiency affects people can vary widely between patients but there are some distinct clinical patterns. There is a form that affects infants called “neonatal intrahepatic cholestasis caused by citrin deficiency” (NICCD). There is a form that affects older children called “failure to thrive and dyslipidemia caused by citrin deficiency” (FTTDCD). There is a form that affects adults called “citrullinemia type II” (CTLN2) which is the most severe form of the condition and can be life-threatening. There are also patients with no or hardly any symptoms. Only a small percentage of CD patients develop CTLN2 but their prognosis is typically poor and in severe cases liver transplantation has been required. We don’t understand
yet why patients with CD are so different and there are currently no specific tests (biomarkers) that effectively track disease progression, making it challenging to monitor how well patients are actually doing or to measure the effect of any treatments. The main goal of this study is to uncover CD-specific biomarkers (an urgent, unmet clinical need) by analysing blood samples collected from CD patients in a standardised way that can be analysed by metabolomics – a powerful approach that allows many different metabolic pathways to be analysed at the same time. This has not been done before in patients with CD and by comparing samples from CD patients at different stages of the disease with matched controls we hope to identify potentially useful biomarkers for CD and for the different stages of CD.REC name
West of Scotland REC 3
REC reference
23/WS/0132
Date of REC Opinion
10 Aug 2023
REC opinion
Favourable Opinion