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Blood tests could unlock secrets of rare metabolic disease

NCT ID NCT06895746

Knowledge-focused Sponsor: Johannes Haeberle Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 100 people

The number the study aims to enrol. It can still change while the study runs.

Started

Apr 2023

Expected to finish

Dec 2026

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Citrin deficiency (CD) is an inherited autosomal recessive metabolic condition that is also a secondary urea cycle disorder caused by mutations in the SLC25A13 gene, which encodes for the mitochondrial transporter, citrin.

Ages

0 to 100 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria for patient group: * confirmed diagnosis of citrin deficiency Exclusion Criteria for control group: * any metabolic disease

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Conditions

The condition(s) this trial relates to.

Adult-onset citrullinemia type 2 citrin deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Citrin deficiency

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

More trials for these conditions

Other studies related to the condition(s) this trial covers.