Analyzing urea production in healthy individuals and patients with urea cycle disorders

Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients

NA · University Children's Hospital, Zurich · NCT05671666

This study is testing how well the body makes urea in healthy people and those with urea cycle disorders to better understand these conditions and improve treatments.

Quick facts

PhaseNA
Study typeInterventional
Enrollment100 (estimated)
SexAll
SponsorUniversity Children's Hospital, Zurich (other)
Locations1 site (Zurich, Canton of Zurich)
Trial IDNCT05671666 on ClinicalTrials.gov

What this trial studies

This study focuses on measuring ureagenesis, the production of urea, in both healthy subjects and patients diagnosed with urea cycle disorders (UCDs). By utilizing a stable ammonium chloride isotope as a tracer, researchers aim to evaluate the overall function of the urea cycle, which is crucial for assessing the efficacy of current and future therapies for UCDs. The study seeks to provide a more comprehensive understanding of UCDs compared to traditional methods that analyze individual metabolites or enzymes. Participants will include healthy individuals and UCD patients who meet specific inclusion criteria.

Who should consider this trial

Good fit: Ideal candidates include healthy individuals of any age and patients with a confirmed diagnosis of urea cycle disorders.

Not a fit: Patients with acute or chronic diseases requiring treatment, as well as pregnant or lactating women, may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved evaluation methods for novel therapies targeting urea cycle disorders.

How similar studies have performed: While the approach of measuring ureagenesis is innovative, similar studies have not been widely reported, indicating this may be a novel approach.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* healthy subjects at any age and given written informed consent
* subjects with a UCD confirmed by genetic or enzymatic diagnostics at any age and given written informed consent

Exclusion Criteria:

* healthy subjects with acute and chronic disease requiring treatment of any kind
* pregnant or lactating women.
* UCD patients with acute and chronic (other than her/his UCD) disease requiring treatment
* UCD patients in which intake of carglumic acid cannot be stopped for 24 hours prior to the test

Where this trial is running

Zurich, Canton of Zurich

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.

View on ClinicalTrials.gov →

Conditions: Urea Cycle Disorders

Last reviewed 2026-05-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.