Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients

NCT ID: NCT05671666

Last Updated: 2026-01-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

100 participants

Study Classification

INTERVENTIONAL

Study Start Date

2019-10-31

Study Completion Date

2035-12-31

Brief Summary

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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.

Detailed Description

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Conditions

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Urea Cycle Disorders

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Healthy controls or UCD patients

Group Type OTHER

Urea cycle flux study

Intervention Type DIAGNOSTIC_TEST

Quantification of ureagenesis

Interventions

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Urea cycle flux study

Quantification of ureagenesis

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University Children's Hospital, Zurich

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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University Children's Hospital

Zurich, Canton of Zurich, Switzerland

Site Status RECRUITING

Countries

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Switzerland

Central Contacts

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Johannes Häberle

Role: CONTACT

0041-442495988

Facility Contacts

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Johannes Haeberle

Role: primary

+41442667342

Other Identifiers

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Ureagenesis01352

Identifier Type: -

Identifier Source: org_study_id

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