Multi-omics Study in Citrin Deficiency
Running, not enrolling
Conditions studied: Citrin Deficiency
In brief
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.
Key facts
- Study ID
- NCT06895746
- Run by
- Johannes Haeberle
- People needed
- 100
- Starts
- 2023-04-01
- Expected to finish
- 2026-12-01
- Last updated by the study team
- 2026-06-02
Who can join
Age: any, up to 100. Sex: any. Healthy volunteers: accepted.
Where it is running
- Mount Sinai Hospital — New York, New York, United States
- Kurume University — Kurume-shi, Fukuoka, Japan
- Saitama Medical University — Saitama, Iruma, Japan
- Saiseikai Yokohama City Eastern Hospital — Yokohama, Kanagawa, Japan
- Jikei University Hospital — Tokyo, Minato City, Japan
- Tohoku University — Sendai, Miyagi, Japan
- Shinshu University Hospital — Matsumoto, Nagano, Japan
- National Hospital Organisation Hokkaido Medical Center — Hokkaido, Sapporo, Japan
- Osaka Metropolitan University — Osaka, Umeda, Japan
- Chiba Children's Hospital — Chiba, Japan
- Kumamoto University Hospital — Kumamoto, Japan
- Yamagata University School of Medicine — Yamagata, Japan
- Pusan National University Yangsan Hospital — Yangsang, Gyeongsang, South Korea
- Taiwan University Hospital — Taipei, Taiwan
- Taipei Veterans General Hospital — Taipei, Taiwan
- Central Manchester University Hospital NHS Foundation Trust — Manchester, Lancashire, United Kingdom
- University Hospitals Birmingham NHS Foundation Trust — Birmingham, United Kingdom
- Birmingham Women's and Children's Hospital NHF Foundation Trust — Birmingham, United Kingdom
- Bristol Royal Hospital for Children — Bristol, United Kingdom
- University College London Hospital — London, United Kingdom
- Great Ormond Street Hospital for Children NHS foundation trust — London, United Kingdom
- Salford Royal NHS Foundation Trust — Salford, United Kingdom
- Sheffield Children's NHS Foundation Trust — Sheffield, United Kingdom
Full record on ClinicalTrials.gov
Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.