Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Interventional
Study Phase: Not Applicable
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. 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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: t
View:

• 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

Locations
Other Locations
Switzerland
University Children's Hospital
RECRUITING
Zurich
Contact Information
Primary
Johannes Häberle
Johannes.haeberle@kispi.uzh.ch
0041-442667342
Time Frame
Start Date: 2019-10-31
Estimated Completion Date: 2035-12-31
Participants
Target number of participants: 100
Treatments
Other: Healthy controls
Related Therapeutic Areas
Sponsors
Leads: University Children's Hospital, Zurich

This content was sourced from clinicaltrials.gov