Multi-omics Study in Citrin Deficiency (NCT06895746)
Multi-omics Study in Citrin Deficiency for Characterization of Disease-specific Metabolites and Biomarker Identification
🩺 Plain-English Summary (8th-Grade Level)
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.
Who can join: Review the eligibility criteria below.
Location: Mount Sinai Hospital — New York, New York
Age range: 0 Years to 100 Years
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (23 Sites)
- Mount Sinai Hospital — New York, New York
- Kurume University — Kurume-shi, Fukuoka
- Saitama Medical University — Saitama, Iruma
- Saiseikai Yokohama City Eastern Hospital — Yokohama, Kanagawa
- Jikei University Hospital — Tokyo, Minato City
- Tohoku University — Sendai, Miyagi
- Shinshu University Hospital — Matsumoto, Nagano
- National Hospital Organisation Hokkaido Medical Center — Hokkaido, Sapporo
- Osaka Metropolitan University — Osaka, Umeda
- Chiba Children's Hospital — Chiba,
- Kumamoto University Hospital — Kumamoto,
- Yamagata University School of Medicine — Yamagata,
- Pusan National University Yangsan Hospital — Yangsang, Gyeongsang
- Taiwan University Hospital — Taipei,
- Taipei Veterans General Hospital — Taipei,
- Central Manchester University Hospital NHS Foundation Trust — Manchester, Lancashire
- University Hospitals Birmingham NHS Foundation Trust — Birmingham,
- Birmingham Women's and Children's Hospital NHF Foundation Trust — Birmingham,
- Bristol Royal Hospital for Children — Bristol,
- University College London Hospital — London,
- Great Ormond Street Hospital for Children NHS foundation trust — London,
- Salford Royal NHS Foundation Trust — Salford,
- Sheffield Children's NHS Foundation Trust — Sheffield,
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
Explore by condition: All Citrin Deficiency clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Review the official NIH record below to find the coordinating site.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.