Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients

Launched by UNIVERSITY CHILDREN'S HOSPITAL, ZURICH · Jan 3, 2023

Keywords

ClinConnect Summary

This clinical trial is studying a condition called urea cycle disorders (UCDs), which are inherited metabolic disorders that affect how the body processes waste. Unfortunately, there is currently no cure for UCDs, but researchers are working on new treatments. This trial aims to measure "ureagenesis," or the production of urea, which is an important function of the urea cycle. By using a safe and non-toxic substance in a simple test, researchers can better understand how well the urea cycle is working in both healthy individuals and those with UCDs. This information could be valuable for developing and testing new therapies in the future.

To participate in this trial, you can be a healthy person or someone diagnosed with a UCD. You must be able to give written consent, and there are some health conditions that would exclude you from participating. The testing will take place at the University Children's Hospital in Zurich and will last a maximum of 5 hours. This study has been reviewed and approved by the Ethics Committee, ensuring that it meets safety and ethical standards. Participants will help researchers gather important data that could lead to better treatments for UCDs.

Gender

ALL

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