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, the Citrin Foundation is sponsoring a Global Omics Study—a landmark multi-center study aimed at identifying novel biomarkers for CD through the analysis of collected plasma samples from CD patients of all ages and healthy controls.

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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:

Clinician Directory
Japan
Multiple sites, coordinated by Kumamoto University

Dr. Shirou Matsumoto

Dr. Jun Kido

Kumamoto University Hospital, Kumamoto

Dr. Takashi Hamazaki

Osaka Metropolitan University Hospital, Osaka

Dr. Kiyoshi Hayasaka

Dr. Chikahiko Numakura

Yamagata University School of Medicine, Yamagata

Dr. Ayano Inui

Saiseikai Yokohamashi Tobu Hospital, Yokohama

Dr. Atsuo Kikuchi

Dr. Yoichi Wada

Tohoku University School of Medicine, Sendai

Dr. Kei Murayama

Dr. Chiba Children's Hospital, Chiba

Dr. Masayoshi Nagao

National Hospital Organisation Hokkaido Medical Center, Hokkaido

Dr. Chikahiko Numakura

Saitama Medical University Hospital, Saitama

Dr. Kimihiko Oishi

The Jikei University School of Medicine, Tokyo

Dr. Yoriko Watanabe

Kurume University Hospital, Fukuoka

Dr. Masahide Yazaki

Shinshu University, Nagano

Korea
Taiwan

Dr. Chong Kun Cheon

Pusan National University School of Medicine, Yangsan

Dr. Chien Yin-Hsiu

National Taiwan University Hospital, Taipei

Dr. Niu Dau-Ming

Taipei Veterans General Hospital, Taipei

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

Dr. Saikat Santra

UK Lead Principal Investigator

Birmingham Women’s and Children’s Hospital, Birmingham

Dr. Spyros Batzios

Great Ormond Street Hospital, London

Dr. Charlotte Dawson

University Hospitals Birmingham NHS Foundation Trust, Birmingham

Dr. Arunabha Ghosh

Central Manchester University Hospital NHS Foundation Trust, Manchester

Dr. Sarah Hulley

Dr. Mark Sharrard

Sheffield Children’s NHS Foundation Trust, Sheffield

Dr. Elaine Murphy

University College London Hospital, London

Dr. Germaine Pierre

Bristol Royal Hospital for Children, Bristol

Dr. Radha Ramachandran

Guy's and St Thomas' NHS Foundation Trust, London

Dr. Karolina Stepien

Salford Royal NHS Foundation Trust, Manchester

Dr. Roshni Vara

Evelina London Children's Hospital, London

United States

Dr. Jaya Ganesh

Icahn School of Medicine at Mount Sinai, New York

Study Locations

Clinician Directory
Japan
Multiple sites, coordinated by Kumamoto University

Dr. Kimitoshi Nakamura

Dr. Shirou Matsumoto

Dr. Jun Kido

Kumamoto University Hospital, Kumamoto

Dr. Takashi Hamazaki

Osaka Metropolitan University Hospital, Osaka

Dr. Kiyoshi Hayasaka

Dr. Chikahiko Numakura

Yamagata University School of Medicine, Yamagata

Dr. Ayano Inui

Saiseikai Yokohamashi Tobu Hospital, Yokohama

Dr. Atsuo Kikuchi

Dr. Yoichi Wada

Tohoku University School of Medicine, Sendai

Dr. Kei Murayama

Chiba Children's Hospital, Chiba

Dr. Masayoshi Nagao

National Hospital Organisation Hokkaido Medical Center, Hokkaido

Dr. Chikahiko Numakura

Dr. Saitama Medical University Hospital, Saitama

Dr. Kimihiko Oishi

The Jikei University School of Medicine, Tokyo

Dr. Yoriko Watanabe

Kurume University Hospital, Fukuoka

Dr. Masahide Yazaki

Shinshu University, Nagano

Korea

Dr. Chong Kun Cheon

Pusan National University School of Medicine, Yangsan

Taiwan

Dr. Chien Yin-Hsiu

National Taiwan University Hospital, Taipei

Dr. Niu Dau-Ming

Taipei Veterans General Hospital, Taipei

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

Dr. Saikat Santra

UK Lead Principal Investigator

Birmingham Women’s and Children’s Hospital, Birmingham

Dr. Spyros Batzios

Great Ormond Street Hospital, London

Dr. Charlotte Dawson

University Hospitals Birmingham NHS Foundation Trust, Birmingham

Dr. Elaine Murphy

University College London Hospital, London

Dr. Germaine Pierre

Bristol Royal Hospital for Children, Bristol

Dr. Karolina Stepien

Salford Royal NHS Foundation Trust, Manchester

United States

Dr. Jaya Ganesh

Icahn School of Medicine at Mount Sinai, New York