Multi-omics Study in Citrin Deficiency

Citrin deficiency (CD) is an underdiagnosed and understudied condition characterized by several distinct phenotypes: 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), 2) the adaptation or silent period, 3) "failure to thrive and dyslipidemia" form of CD (FTTDCD), and 4) citrullinemia type II (CTLN2), with the latter representing the final and most severe form of the condition. There is currently no cure for CD and patients manage their symptoms with lifelong dietary intervention and regular checkups with their physicians. A major hurdle in developing effective treatments for CD is the lack of effective biomarkers that track well with disease severity or measure the effectiveness of therapeutics. The present study aims to identify robust circulating biomarkers of CD through analysis of blood samples from CD patients.

NCT Number	NCT06895746
Lead Sponsor	Johannes Haeberle Collaborators: Citrin Foundation, Bristol Royal Hospital for Children, Manchester University NHS Foundation Trust, University Hospital Birmingham NHS Foundation Trust, Northern Care Alliance NHS Foundation Trust, Mount Sinai Hospital, New York, National Taiwan University Hospital, Taipei Veterans General Hospital, Taiwan, Pusan National University Yangsan Hospital, Saitama Medical University, Osaka Metropolitan University, Tohoku University, Kurume University, University College London Hospitals, Sheffield Children's NHS Foundation Trust, Great Ormond Street Hospital for Children NHS Foundation Trust, Kumamoto University, Saiseikai Yokohama City Eastern Hospital, Jikei University School of Medicine, Yamagata University, Chiba Children's Hospital, Shinshu University Hospital, Birmingham Women's and Children's NHS Foundation Trust, National Hospital Organisation Hokkaido Medical Center
Conditions	Citrin Deficiency
Enrollment	100 participants
Start Date	2023-04-01
Primary Completion	2026-06 (estimated)
Study Completion	2026-12 (estimated)
Updated on ClinicalTrials.gov	2026-06-02