Multi-omics study in citrin deficiency for characterization of disease-specific metabolites and biomarker identification

The lack of reliable biomarkers for citrin deficiency (CD) makes it challenging to monitor disease progression and hampers the development of effective treatments. To address this, Citrin Foundation is sponsoring a Global Omics Study—a landmark multi-centre study aimed at identifying novel biomarkers for CD through the analysis of collected plasma samples from CD patients of all ages and healthy controls.

Patient Information Sheet
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  • To identify novel biomarkers specific to citrin deficiency
  • Planned patient enrolment: At least 100 CD patients
  • Enrolment status: Currently recruiting participants. Recruitment tentatively ends in March 2025

 

  • Sample collection: Plasma samples will be collected after a minimum 4-hour fast
  • Sample analysis: Samples will be analysed by metabolomics, proteomics, lipidomics, and transcriptomics at Eidgenössische Technische Hochschule (ETH) Zürich (Swiss Federal Institute of Technology Zurich),  Switzerland

 

Lead Principal Investigators

Dr. Johannes Häberle

University Children’s Hospital Zürich, University of Zürich, Switzerland

Dr. Kimitoshi Nakamura

Kumamoto University, Japan

Study Locations

Sample Analysis: Eidgenössische Technische Hochschule (ETH) Zürich (Swiss Federal Institute of Technology Zurich),  Switzerland

Recruitment Centers

Japan
Multiple sites, coordinated by Kumamoto University

  • Kumamoto University Hospital, Kumamoto

    • Principal Investigators: Dr. Shirou Matsumoto and Dr. Jun Kido

  • Osaka Metropolitan University Hospital, Osaka

    • Principal Investigator: Dr. Takashi Hamazaki

  • Yamagata University School of Medicine, Yamagata

    • Principal Investigators: Dr. Kiyoshi Hayasaka and Dr. Chikahiko Numakura

  • Saiseikai Yokohamashi Tobu Hospital, Yokohoma

    • Principal Investigator: Dr. Ayano Inui

  • Tohoku University School of Medicine, Sendai

    • Principal Investigators: Dr. Atsuo Kikuchi and Dr. Yoichi Wada
  • Chiba Children’s Hospital, Chiba

    • Principal Investigator: Dr. Kei Murayama

  • National Hospital Organisation Hokkaido Medical Center, Hokkaido

    • Principal Investigator: Dr. Masayoshi Nagao

  • Saitama Medical University Hospital, Saitama

    • Principal Investigator: Dr. Chikahiko Numakura

  • Jikei University Hospital, Tokyo

    • Principal Investigator: Dr. Kimihiko Oishi

  • Kurume University Hospital, Fukuoka

    • Principal Investigator: Dr. Yoriko Watanabe

  • Shinshu University, Nagano

    • Principal Investigator: Dr. Masahide Yazaki

Korea

  • Pusan National University School of Medicine, Yangsan

    • Principal Investigator: Dr. Chong Kun Cheon

Taiwan

  • National Taiwan University Hospital, Taipei

    • Principal Investigator: Dr. Chien Yin-Hsiu
  • Taipei Veterans General Hospital, Taipei

    • Principal Investigator: Dr. Niu Dau-Ming

United Kingdom
Multiple sites, coordinated by Birmingham’s Women’s & Children’s Hospital

  • Birmingham Women’s and Children’s Hospital, Birmingham

    • UK Lead Principal Investigator: Dr. Saikat Santra

  • Great Ormond Street Hospital, London

    • Principal Investigator: Dr. Spyros Batzios

  • University Hospitals Birmingham NHS Foundation Trust, Birmingham

    • Principal Investigator: Dr. Charlotte Dawson
  • Central Manchester University Hospital NHS Foundation Trust, Manchester

    • Principal Investigator: Dr. Arunabha Ghosh
  • Sheffield Children’s NHS Foundation Trust, Sheffield

    • Principal Investigators: Dr. Sarah Hulley and
      Dr. Mark Sharrard

  • University College London Hospital, London

    • Principal Investigator: Dr. Elaine Murphy

  • Bristol Royal Hospital for Children, Bristol

    • Principal Investigator: Dr. Germaine Pierre
  • Guy’s and St Thomas’ NHS Foundation Trust, London

    • Principal Investigator: Dr. Radha Ramachandran

  • Salford Royal NHS Foundation Trust, Manchester

    • Principal Investigator: Dr. Karolina Stepien
  • Evelina London Children’s Hospital, London

    • Principal Investigator: Dr. Roshni Vara

United States

  • Icahn School of Medicine at Mount Sinai, New York

    • Principal Investigator: Dr. Jaya Ganesh