Scientists probe liver fuel problems in rare citrin deficiency
NCT ID NCT07055269
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at how the liver processes energy and removes ammonia in people with citrin deficiency, a rare genetic disorder. Researchers will give participants special 'labeled' water, fructose, and ammonium chloride to track liver activity. By comparing 10 patients with 10 healthy volunteers, they hope to uncover key metabolic problems that could guide future treatments.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- stable isotopes (heavy water, labeled fructose, and labeled ammonium chloride)
- What this could lead to
- If successful, this study could reveal how citrin deficiency disrupts liver metabolism, pointing toward new ways to monitor or treat the condition.
- What could go wrong
- This is a small, early-stage observational study with only 20 participants. It aims to understand the disease, not test a treatment, so direct patient benefits are unlikely.
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.
- Phase
-
Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 20 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Oct 2025
- Expected to finish
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Sep 2026
An estimate. End dates often move.
- Lead sponsor
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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.
- Ages
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18 to 65 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide 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 AACD patients are: * Subjects with citrin deficiency, confirmed by genetic analysis to carry pathogenic variant(s) in the SLC25A13 gene * Age from 18 years to 65 years inclusive * Male or female * Written informed consent has been given * Understands and is willing, able and likely to comply with study procedures and restrictions Inclusion criteria for healthy subjects are: * Age from 18 years to 65 years inclusive, and not more than five years younger or older than the specified paired participant from the AACD group * Same sex as the specified paired participant from the AACD group * Same ethnicity the specified paired participant from the AACD group * Written informed consent has been given * Understands and is willing, able and likely to comply with study procedures and restrictions Exclusion criteria for AACD patients are: * acute and chronic disease requiring treatment of any kind, other than his/her AACD * females who are pregnant or lactating or attempting to become pregnant * use of any medication which, in the opinion of the investigator, is likely to interfere with liver function Exclusion criteria for healthy subjects are: * carry any pathogenic variant in the SLC25A13 gene * current or recurrent disease that could affect the metabolic function of the liver * acute and chronic disease requiring treatment of any kind * females who are pregnant or lactating or attempting to become pregnant * use of any medication which, in the opinion of the investigator, is likely to interfere with liver function * weight loss ≥10% within 3 months before study screening * daily alcohol consumption of more than 2 standard-sized beer for men and more than 1 standard-sized beer for women, or the equivalent * BMI \> 30 kg/m2 * currently smoking \>1 cigarette daily * liver transplant recipients * type 1 and 2 diabetes * currently on a ketogenic diet * currently taking medium chain triglyceride (MCT) supplements
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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.
Contacts and locations
Locations
-
University Children's Hospital Zurich
Zurich, 8008, Switzerland
More trials for these conditions
Other studies related to the condition(s) this trial covers.