Blood tests could unlock secrets of rare metabolic disease

NCT ID NCT06895746

First seen Jan 08, 2026 · Last updated Apr 29, 2026 · Updated 16 times

Summary

This study looks at blood samples from 100 people with citrin deficiency, a rare inherited condition that affects the liver and metabolism. Researchers want to find specific substances in the blood that can show how severe the disease is or how well treatments are working. The goal is to discover better markers that could help develop new therapies in the future.

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Contacts and locations

Locations

  • Birmingham Women's and Children's Hospital NHF Foundation Trust

    Birmingham, B4 6NH, United Kingdom

  • Bristol Royal Hospital for Children

    Bristol, BS2 8BJ, United Kingdom

  • Central Manchester University Hospital NHS Foundation Trust

    Manchester, Lancashire, M13 9WL, United Kingdom

  • Chiba Children's Hospital

    Chiba, 266-0007, Japan

  • Great Ormond Street Hospital for Children NHS foundation trust

    London, WC1N 3JH, United Kingdom

  • Jikei University Hospital

    Tokyo, Minato City, 105-0003, Japan

  • Kumamoto University Hospital

    Kumamoto, 860-8556, Japan

  • Kurume University

    Kurume-shi, Fukuoka, 830-0011, Japan

  • Mount Sinai Hospital

    New York, New York, 10029, United States

  • National Hospital Organisation Hokkaido Medical Center

    Hokkaido, Sapporo, 063-0005, Japan

  • Osaka Metropolitan University

    Osaka, Umeda, 1 Chome-2-2-600, Japan

  • Pusan National University Yangsan Hospital

    Yangsang, Gyeongsang, 50612, South Korea

  • Saiseikai Yokohama City Eastern Hospital

    Yokohama, Kanagawa, 230-0012, Japan

  • Saitama Medical University

    Saitama, Iruma, 350-0451, Japan

  • Salford Royal NHS Foundation Trust

    Salford, M6 8HD, United Kingdom

  • Sheffield Children's NHS Foundation Trust

    Sheffield, S10 2TH, United Kingdom

  • Shinshu University Hospital

    Matsumoto, Nagano, 390-0802, Japan

  • Taipei Veterans General Hospital

    Taipei, 112, Taiwan

  • Taiwan University Hospital

    Taipei, 100, Taiwan

  • Tohoku University

    Sendai, Miyagi, 980-8577, Japan

  • University College London Hospital

    London, NW1 2BU, United Kingdom

  • University Hospitals Birmingham NHS Foundation Trust

    Birmingham, B15 2TH, United Kingdom

  • Yamagata University School of Medicine

    Yamagata, 990-9585, Japan

Conditions

Explore the condition pages connected to this study.