Multi-omics Study in Citrin Deficiency

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.

Conditions

• Citrin Deficiency

Sponsors & Collaborators

• Citrin Foundation

  collaborator UNKNOWN

• Bristol Royal Hospital for Children

  collaborator OTHER

• Central Manchester University Hospital NHS Foundation Trust

  collaborator UNKNOWN

• University Hospital Birmingham NHS Foundation Trust

  collaborator OTHER

• Northern Care Alliance NHS Foundation Trust

  collaborator OTHER

• Mount Sinai Hospital, New York

  collaborator OTHER

• National Taiwan University Hospital

  collaborator OTHER

• Taipei Veterans General Hospital, Taiwan

  collaborator OTHER_GOV

• Pusan National University Yangsan Hospital

  collaborator OTHER

• Saitama Medical University

  collaborator OTHER

• Osaka Metropolitan University

  collaborator OTHER

• Tohoku University

  collaborator OTHER

• Kurume University

  collaborator OTHER

• University College London Hospitals

  collaborator OTHER

• Sheffield Children's NHS Foundation Trust

  collaborator OTHER

• Great Ormond Street Hospital for Children NHS Foundation Trust

  collaborator OTHER

• Kumamoto University

  collaborator OTHER

• Saiseikai Yokohama City Eastern Hospital

  collaborator OTHER

• Jikei University School of Medicine

  collaborator OTHER

• Yamagata University

  collaborator OTHER

• Chiba Children's Hospital

  collaborator UNKNOWN

• Shinshu University Hospital

  collaborator UNKNOWN

• Birmingham Women's and Children's NHS Foundation Trust

  collaborator OTHER

• National Hospital Organisation Hokkaido Medical Center

  collaborator UNKNOWN

• Johannes Haeberle

  lead OTHER

Eligibility

Min Age

0 Years

Max Age

100 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2023-04-01

Primary Completion

2026-06-30

Completion

2026-12-31

Countries

• United States
• Japan
• South Korea
• Taiwan
• United Kingdom

Study Locations