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Multi-omics Study in Citrin Deficiency
Sponsor: Johannes Haeberle
Summary
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.
Official title: Multi-omics Study in Citrin Deficiency for Characterization of Disease-specific Metabolites and Biomarker Identification
Key Details
Gender
All
Age Range
0 Years - 100 Years
Study Type
OBSERVATIONAL
Enrollment
100
Start Date
2023-04-01
Completion Date
2026-12
Last Updated
2026-01-06
Healthy Volunteers
Yes
Conditions
Locations (23)
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