Ureagenesis Analysis in Healthy Subjects and in Urea Cycl... | NCT05671666

Studies
Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients

NCT05671666

Sponsor

University Children's Hospital, Zurich

Status

Recruiting

Last Update Posted

Jan 8, 2026Actual

Enrollment

100Estimated

Phase

Not Applicable

Conditions

Urea Cycle Disorders

Interventions

Urea cycle flux study

Countries

Switzerland

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 31, 2019Actual

Primary Completion Date

Dec 31, 2035Estimated

Completion Date

Dec 31, 2035Estimated

First Submitted Date

Nov 1, 2022

First Submission Date that Met QC Criteria

Jan 3, 2023

First Posted Date

Jan 5, 2023Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 5, 2026

Last Update Posted Date

Jan 8, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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.

Detailed Description

Not provided

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

100Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Healthy controls or UCD patients	Other		Diagnostic Test: Urea cycle flux study

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Urea cycle flux study	Diagnostic Test	Quantification of ureagenesis	Healthy controls or UCD patients

Outcomes Module

Primary Outcomes

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.	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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility 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

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Johannes Häberle	Contact	0041-442495988		Johannes.haeberle@kispi.uzh.ch

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University Children's Hospital	Recruiting	Zurich	Canton of Zurich	8008	Switzerland

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
D056806	Urea Cycle Disorders, Inborn

Ancestor Terms

ID	Term
D020739	Brain Diseases, Metabolic, Inborn
D001928	Brain Diseases, Metabolic
D001927	Brain Diseases
D002493	Central Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided