Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients

January 3, 2023 updated by: University Children's Hospital, Zurich

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. 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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

The term "we" was exchanged by "The investigators" as recommended.

Study Type

Interventional

Enrollment (Anticipated)

100

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Healthy controls
Diagnostic test: Urea cycle flux study
Quantification of ureagenesis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Rate of flux through the urea cycle using stable isotopes in healthy subjects and patients, and the change of rate of flux through the urea cycle in patients after an intervention or for follow-up.
Time Frame: Baseline for healthy subjects and patients and post-intervention (up to 1 year after the intervention) for patients
Measurement of total concentrations of urea in plasma (in mmol/L) and amino acids in plasma (in micromol/L) and their enrichment (in %) after application of a stable isotope tracer by using a high-resolution liquid chromatography mass spectrometry (LC MS) method.
Baseline for healthy subjects and patients and post-intervention (up to 1 year after the intervention) for patients

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Children's Hospital, Zurich

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 31, 2019

Primary Completion (Anticipated)

December 31, 2035

Study Completion (Anticipated)

December 31, 2035

Study Registration Dates

First Submitted

November 1, 2022

First Submitted That Met QC Criteria

January 3, 2023

First Posted (Actual)

January 5, 2023

Study Record Updates

Last Update Posted (Actual)

January 5, 2023

Last Update Submitted That Met QC Criteria

January 3, 2023

Last Verified

January 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Ureagenesis01352

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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