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Liver Metabolic Functions in Patients With Citrin Deficiency and Healthy Subjects

StatusActive, Not Recruiting
PhaseNot applicable
Started
View on ClinicalTrials.gov ↗
Record status
This record was last updated January 8, 2026 (before its estimated September 2026 completion). Its status may not reflect the trial's current state.

Record History

  1. Trial status: Recruiting to Active, Not Recruiting
    • Site details revised
    v3
  2. Trial status: Not Yet Recruiting to Recruiting
    • Start date: Aug 2025 to Oct 20, 2025
    • Primary and study completion dates: Aug 2026 to Sep 2026
    • Site details revised
    v2
  3. Study First Submitted
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
Citrin is an aspartate-glutamate transporter in the liver that facilitates the urea cycle pathway for ammonia detoxification via ureagenesis. It is also thought to be involved in liver energy metabolism as a component of the malate-aspartate shuttle. The clinical presentation in patients supports the hypothesis that liver glycolytic, gluconeogenic and lipogenic functions are compromised in citrin deficiency, but none of the key hepatic pathway fluxes have been measured in patients to date. This is the first study that will examine the liver metabolic fluxes in patients with citrin deficiency. Liver metabolic functions will be examined by metabolic flux assays and biochemical measurements after application of stable isotopes 2H2O and \[U-13C6\]-fructose. Urea cycle metabolites and their enrichment after application of a stable isotope tracer 15NH4Cl will be measured to examine the liver's ability to detoxify ammonia into urea.
Trial Details
NCT Number NCT07055269
Lead Sponsor Johannes Haeberle
Collaborators: Citrin Foundation, Marc Hellerstein, University of Berkeley
Conditions
(from sponsor)		 Citrin Deficiency
Related terms Adult-onset citrullinemia type 2
Enrollment 20 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov