NCT01549015

Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD) and Carriers of UCD Mutations to Evaluate Urea Cycle Function

Open, Prospective, Diagnostic, Multicentre Study in Healthy Subjects, Patients With Urea Cycle Disorders (UCD), and Carriers of UCD Mutations, to Evaluate in Vivo Ureagenesis Measured After a Single Application of Sodium [1,2-13C]-Acetate

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 37 (actual)
• Sponsor: Cytonet GmbH & Co. KG · Industry
• Sex: All
• Age: 65 Years
• Healthy volunteers: Accepted

Summary

This diagnostic study will be performed to investigate the performance of the urea cycle in healthy subjects, asymptomatic carriers of Urea Cycle Disorders (UCD) mutations and subjects with genetically proven urea cycle disorders. The ureagenesis rate will be measured by 13C incorporation assay, a method for in vivo measurement of urea cycle performance with stable isotopes.

Detailed description

In this diagnostic study CCD09, the urea metabolism in UCD subjects (patients and carriers) and healthy subjects of different age and sex will be assessed by measurement of the incorporation of 13C from orally taken sodium \[1,2-13C\]-acetate into urea by 13C stable isotope ratio detection. The aim of the study is to determine the 13C urea production and to quantify the total urea production in healthy subject, gene defect carrier or patient as marker for the functioning of the urea cycle. Since there are still only few data available using this specific method for measurement of urea cycle performance, the aim of this study CCD09 is to gain additional results on the 13C assay. To this end, comparison will be made between 13C urea production observed in healthy subjects, UCD patients, and asymptomatic mutation carriers. An evaluation of this study may also enable the treating physician to better judge the severity of disease and the future risk of metabolic decompensations in patients as well as the potential risk for so far asymptomatic carriers.

Conditions

• Urea Cycle Disorders

Interventions

Type	Name	Description
OTHER	oral administration of Sodium [1,2-13C]-Acetate	single dose of 0.55 mg/kg 13C-Acetate given orally of via a naso-gastric tube

Timeline

• Start date: 2012-01-01
• Primary completion: 2012-07-01
• Completion: 2013-03-01
• First posted: 2012-03-08
• Last updated: 2013-06-26

Locations

4 sites across 1 country: Germany