Multi-omics study in citrin deficiency for characterization of disease-specific metabolites and biomarker identification

Background:  

A major hurdle in developing effective treatments for citrin deficiency (CD) is the lack of effective biomarkers that track well with disease severity or to evaluate the effectiveness of therapeutics. This Foundation-initiated study aims to identify robust circulating biomarkers of CD through targeted and untargeted metabolomics, proteomics, lipidomics, and transcriptomics analysis of blood samples collected from CD patients. The Foundation has gathered a global patient cohort of over 300 patients to participate in the study and aims to enrol over 100 CD patients of all ages.

Study: 

The study is co-led by Professor Johannes Häberle (University Children’s Hospital Zürich) and Professor Kimitoshi Nakamura (Kumamoto University Graduate School of Medical Sciences), as well as other participating sites from Japan, Taiwan, Singapore, UK, and USA. The study is slated to begin in 2023 with results expected in 2024/2025.

(Updated April 2023)