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.
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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.