Baylor College of Medicine has partnered with the National Urea Cycle Disorders Foundation (NUCDF), a top patient advocacy organization, to develop research into understanding, treating and eventually curing urea cycle disorders, which are the result of a genetic defect that causes deficiency in an enzyme that plays a crucial role in the urea cycle’s proper function.
The urea cycle works to detoxify ammonia (a byproduct of protein metabolism) from the bloodstream. Usually, the cycle converts ammonia that is present in the bloodstream into urine which can then be eliminated by the body. In individuals with urea cycle disorders, there is an ammonia build-up in the blood that eventually leads to toxic levels, and without intervention it can damage the brain and quickly lead to coma stages and even death.
The NUCDF is supporting the CureUCD Center along with a new Preclinical Therapeutic Discovery initiative to be established at BCM. The goal is to engage technology and drug firms that are in early stages of testing and validation assessment of novel small nucleic acids and molecules as well as cell and gene therapies that might be able to address these disorders.
“Great progress has been made in the clinical research and infrastructure required for testing cures for urea cycle disorders. There is still no cure despite significant improvements in care and quality of life. We need to find a cure. This new collaboration will jump start that,” noted Brendan Lee from Baylor that will lead the study.
Cindy LeMons, the Foundation’s executive director, added: “We are very excited about this model partnership to establish the CureUCD Center for Preclinical Therapeutic Discovery to catalyze development and help drive new treatments for UCD through the pipeline. Our children and adults with UCD are in a fight for their lives. We are laser focused on finding a cure.”
The National Urea Cycle Disorders Foundation was established in 1988 and is the only nonprofit organization in the world that is exclusively focused on saving and improving the lives of children as well as adults that live with urea cycle disorders. The Foundation supports critical research, provides information and education to families and medical professionals, and raises public awareness to decrease undiagnosed cases of the disorder and help advance drug development for next-generation therapies.