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Liver Metabolic Functions in Patients With Citrin Deficiency and Healthy Subjects

NCT07055269 · Status: ACTIVE_NOT_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 20

Last updated 2026-01-08

No results posted yet for this study

Summary

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.

Conditions

  • Citrin Deficiency

Interventions

OTHER

liver metabolic flux

All participants will be given heavy water (2H2O, deuterium-labelled) and \[U-13C6\]-fructose orally, each followed by the collection of one blood plasma sample. Additional biochemical and clinical parameters including liver fat content by MRI, liver fibrosis and cirrhosis by ultrasound imaging and plasma biochemical profiles will be analyzed.

OTHER

ureagenesis capacity

urea and urea cycle metabolites and their enrichment after oral administration of a stable isotope tracer 15NH4Cl will be measured to examine the liver's ability to detoxify ammonia.

Sponsors & Collaborators

  • Citrin Foundation

    collaborator UNKNOWN

  • Marc Hellerstein, University of Berkeley

    collaborator UNKNOWN

  • Johannes Haeberle

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
18 Years
Max Age
65 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-10-20
Primary Completion
2026-09-30
Completion
2026-09-30

Countries

  • Switzerland

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07055269 on ClinicalTrials.gov