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Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients

NCT05671666 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100

Last updated 2026-01-08

No results posted yet for this study

Summary

Urea cycle disorders (UCDs) are dramatic congenital inherited metabolic disorders. There is no cure. Many novel therapeutic approaches are currently being developed, which hopefully will change the current situation. Testing the efficacy of such new therapies in patients is a challenge, because many clinical parameters are influenced by several disturbances and biochemical parameters are often not very specific.

The measurement of ureagenesis is a tool to analyze the entire function of the urea cycle in a single test. This is more meaningful for the characterization of UCD patients than the analysis of single metabolites or enzymes. Therefore, the test will be important to evaluate current and future novel therapies.

The term "ureagenesis" means "production of urea", which is the main task of the urea cycle. This total urea production can be measured with a "tracer" (in this case a stable ammonium chloride isotope). This tracer is non-radioactive and non-toxic. It is for example used as an unmarked substance in cough syrup, diuretic drugs and as food additive. Thus, the tracer does not pose a risk to the participant, especially since only a very low dose is applied.

The investigators will analyze specific substances from the urea cycle (namely \[15N, 14N\] urea and several \[15N\] amino acids) that are produced during the test and compare them with results from healthy people. Venous and capillary blood will be sampled at 15 to 30 minutes intervals up to 2 hours after administration of the stable isotope tracer. The maximum test duration is 5 hours.

This project is being carried out at one site, namely the University Children's Hospital in Zurich.

This project is being carried out under Swiss law. The responsible Ethics Committee has reviewed and approved the study.

Conditions

  • Urea Cycle Disorders

Interventions

DIAGNOSTIC_TEST

Urea cycle flux study

Quantification of ureagenesis

Sponsors & Collaborators

  • University Children's Hospital, Zurich

    lead OTHER

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-10-31
Primary Completion
2035-12-31
Completion
2035-12-31

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 NCT05671666 on ClinicalTrials.gov