Evaluation of Ureagenesis Using a Stable Isotope Test in Healthy Individuals and Patients with Urea Cycle Disorders

What this Trial Is About

Urea cycle disorders UCDs are serious inherited metabolic conditions without a cure. Researchers are developing new treatments but testing their effects is difficult because many clinical and biochemical factors affect measurements. This study aims to measure ureagenesis, the production of urea by the urea cycle, using a stable ammonium chloride isotope tracer to better assess urea cycle function in both healthy individuals and patients with UCD. Participants receive a non-radioactive, non-toxic stable isotope tracer, which is commonly used in medications and food additives at low doses. This tracer allows researchers to track total urea production in a single test. Blood samples are taken from veins and capillaries at intervals of 15 to 30 minutes for up to 2 hours after tracer administration, with a maximum test duration of 5 hours. During the study, researchers analyze specific substances related to the urea cycle in the blood and compare results between healthy participants and UCD patients. The main measurement is the rate of urea cycle activity both at baseline and after any interventions up to one year later. The study is conducted at one site under Swiss law with ethics committee approval, and involves healthy volunteers as well as patients with confirmed UCD.

Ureagenesis Analysis in Healthy Subjects and in Urea Cycle Disorder Patients