July 30th, 2024
Tuberous sclerosis complex (TSC) is a genetic condition that leads to the development of benign tumors in multiple organs, including the brain, eyes, heart, kidneys, skin, and lungs. This condition can arise from inherited genetic factors or mutations occurring during conception or early embryonic development.
TSC is relatively rare, affecting approximately 1 in 6,000 newborns. Globally, nearly one million individuals live with this disorder, with an estimated 50,000 cases in the United States.
“It affects both males and females equally and is present in all races and ethnic groups,” said Martina Bebin, M.D., director of the UAB TSC Clinic and professor in the UAB Department of Neurology. “The condition can show up in many ways, but it most significantly affects the brain, leading to seizures, developmental delays, intellectual disabilities, and autism. These symptoms can greatly reduce the quality of life for those affected.”
Through research and clinical efforts, UAB researchers have been at the forefront of TSC research to better understand and address the impact of TSC on patients.
Three UAB researchers are among the eight who were recently honored with the Progress in Research Award from the TSC Alliance, a nonprofit focused on advancing TSC research and supporting investigators. This recognition celebrates their achievement in clinical research, the PREVeNT Trial.
The three UAB TSC researchers include Bebin, the principal investigator of the trial and a founding member of the TSC Clinical Research Consortium; Sarah O’Kelley, Ph.D., associate professor in the UAB Department of Psychology, lead neurodevelopmental psychologist for the trial; and Gary Cutter, Ph.D., professor emeritus in the UAB Department of Biostatistics and the trial's biostatistician.
“The PREVeNT Trial core team receiving the Progress in Research Award from the TSC Alliance at their 50th Year Gala highlights significant contributions to the field,” Bebin said. “Their work, which involved launching the first preventive clinical trial for epilepsy in the United States aimed at preventing or delaying seizures in infants with TSC, represents a major milestone. This pioneering trial has set the stage for future research focused on preventative treatments for TSC.”
Bebin offers additional information about the UAB TSC Clinic and its clinical research.