PCORI Urea Cycle Disorder Study

Completed

Conditions studied: Urea Cycle Disorders

In brief

Urea cycle disorders (UCD) are genetic disorders caused by the liver's inability to break down ammonia from proteins; ammonia then accumulates and is toxic to the brain. UCD cause brain damage and intellectual and developmental disabilities and even death. Treatment for UCD is either conservative management which involves a low-in-protein diet, drugs, and amino acid supplements or liver transplantation; each carries their own risks. This study aims to help patients to make the decision about different management alternatives by providing them with scientific information that is currently lacking. Aim 1 of this study will compare survival, neurocognitive function, and patient-reported quality of life.

Key facts

Study ID

NCT02740153

Run by

Children's National Research Institute

People needed

187

Starts

2016-03-04

Expected to finish

2020-06-30

Last updated by the study team

2021-01-26

Who can join

Age: any, up to 18. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Aim 1 (UCD patients):
• Age 18 and under
• Diagnosed with the following Neonatal-type urea cycle disorders:
• CPSD, OTCD, ASD or ALD, as defined as follows:
• Diagnosis of CPS I deficiency, defined as decreased (less than 20 % of control) CPS I enzyme activity in liver, and/or an identified pathogenic mutation, and/or hyperammonemia and first-degree relative meets at least one of the criteria for CPS I deficiency
• Diagnosis of OTC deficiency, defined as the identification of a pathogenic mutation, and/or less than 20% of control of OTC activity in the liver, and/or elevated urinary orotate (greater than 20 uM/mM) in a random urine sample or after allopurinol challenge test, and/or hyperammonemia and first degree relative meets at least one of the criteria for OTC deficiency
• Diagnosis of AS deficiency (Citrullinemia), defined as a greater than or equal to 10-fold elevation of citrulline in plasma, and/or decreased (less than 20% of control) AS enzyme activity in cultured skin fibroblasts or other appropriate tissue, and/or identification of a pathogenic mutation in the AS gene, and/or hyperammonemia and first degree relative meets at least one of the criteria for AS Deficiency
• Diagnosis of AL deficiency (Argininosuccinic Aciduria, ASA), defined as the presence of argininosuccinic acid in the blood or urine, and/or decreased (less than 20% of control) AL enzyme activity in cultured skin fibroblasts or other appropriate tissue, and/or identification of a pathogenic mutation in the AL gene, and/or hyperammonemia and first degree relative meets at least one of the criteria for AL Deficiency
• Willing to participate in at least 1 neurocognitive assessment and 1 quality of life assessment
• Permit access to medical records and medical providers

You may not qualify if…

• Aim 1:
• Rare and unrelated comorbidities (e.g., Down's syndrome, intraventricular hemorrhage in the newborn period, and extreme prematurity)

Where it is running

• Childrens Research Institute — Washington D.C., District of Columbia, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.