Rare Diseases Clinical Research Center: Urea Cycle Disorders
This is a multi-center clinical research network focused on natural history and interventional studies in the group of urea cycle disorders. Dr. Lee is the PI of the Baylor College of Medicine site and the lead accrual center in the network. The clinical research objectives of the UCDC are to perform:
- A Longitudinal Study of the natural history of UCD (Project 1; RDCRC Protocol 5101)
- A Phase II/III clinical trial of N-carbamyl-L-glutamate (Carbaglu), an investigational new drug ( IND ), in UCD (Project 2; RDCRC Protocol 5105)
- A neuroimaging/neuropsychological investigation of deficits in individuals with the most common UCD, OTCD (Project 3; RDCRC Protocol 5104)
- Pilot projects studying nitric oxide dysregulation (expansion of RDCRC Protocol 5102), neuropeptides and cytokines in UCD.
Relevance of the project to IDDRC mission:
Individuals with urea cycle disorder suffer from significant neurodevelopmental morbidity due to recurrent hyperammonemia. With the widespread use of expanded newborn screening, the natural history of these conditions and new interventions to prevent hyperammonemia is critical. Moreover, the urea cycle direct regulates synthesis of nitric oxide and the long term morbidity associated with some of these conditions represent unique models of nitric oxide dysregulation.