Blood tests could unlock secrets of rare metabolic disease
NCT ID NCT06895746
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
Citrin deficiency is a rare, underdiagnosed condition that affects the liver and metabolism. There is no cure, and patients manage symptoms with lifelong diet changes. This study analyzes blood samples from 100 patients to find biomarkers that could help track disease severity and measure how well treatments work.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
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Contacts and locations
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Locations
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Birmingham Women's and Children's Hospital NHF Foundation Trust
Birmingham, B4 6NH, United Kingdom
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Bristol Royal Hospital for Children
Bristol, BS2 8BJ, United Kingdom
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Central Manchester University Hospital NHS Foundation Trust
Manchester, Lancashire, M13 9WL, United Kingdom
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Chiba Children's Hospital
Chiba, 266-0007, Japan
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Great Ormond Street Hospital for Children NHS foundation trust
London, WC1N 3JH, United Kingdom
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Jikei University Hospital
Tokyo, Minato City, 105-0003, Japan
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Kumamoto University Hospital
Kumamoto, 860-8556, Japan
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Kurume University
Kurume-shi, Fukuoka, 830-0011, Japan
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Mount Sinai Hospital
New York, New York, 10029, United States
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National Hospital Organisation Hokkaido Medical Center
Hokkaido, Sapporo, 063-0005, Japan
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Osaka Metropolitan University
Osaka, Umeda, 1 Chome-2-2-600, Japan
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Pusan National University Yangsan Hospital
Yangsang, Gyeongsang, 50612, South Korea
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Saiseikai Yokohama City Eastern Hospital
Yokohama, Kanagawa, 230-0012, Japan
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Saitama Medical University
Saitama, Iruma, 350-0451, Japan
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Salford Royal NHS Foundation Trust
Salford, M6 8HD, United Kingdom
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Sheffield Children's NHS Foundation Trust
Sheffield, S10 2TH, United Kingdom
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Shinshu University Hospital
Matsumoto, Nagano, 390-0802, Japan
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Taipei Veterans General Hospital
Taipei, 112, Taiwan
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Taiwan University Hospital
Taipei, 100, Taiwan
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Tohoku University
Sendai, Miyagi, 980-8577, Japan
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University College London Hospital
London, NW1 2BU, United Kingdom
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University Hospitals Birmingham NHS Foundation Trust
Birmingham, B15 2TH, United Kingdom
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Yamagata University School of Medicine
Yamagata, 990-9585, Japan