A shared goal to raise awareness and develop better treatments for neonatal-onset epilepsy has brought Baylor College of Medicine researchers together with three U.S. families: Jim and Tina Thompson of Iowa, Carla and Bryan Forbes from Massachusetts, and Jim Johnson and Scotty Sims in Colorado. Each couple has a child who suffered his or her first seizure within hours of birth. Those seizures continued through long stays in local neonatal intensive care units where standard treatments were unsuccessful.
Extensive diagnostic workups did not find answers, and each family waited years before the gene causing their child’s seizures could be identified. The parents subsequently helped found or lead different non-profit organizations supporting research on their children’s illnesses, including a new U.S.-wide study called Early Recognition of Genetic Epilepsy in Neonates (ERGENT).
ERGENT, led by Dr. Edward C. Cooper, associate professor of neurology, neuroscience and molecular and human genetics at Baylor College of Medicine, seeks to increase awareness of neonatal genetic epilepsy while testing new tools for identifying the newborns at highest risk for this condition.
Along with co-investigators Dr. John J. Millichap of Ann & Robert H. Lurie Children’s Hospital in Chicago and Dr. Tammy Tsuchida of Children’s National Medical Center in Washington, D.C., Cooper and his colleagues have created a program that provides free-of-charge genetic testing to babies who have features suggestive of a genetically-caused epilepsy.
“Babies with specific genetic causes of epilepsy are less common than those whose seizures are caused by injury, so, unfortunately, this diagnosis is often considered later than is optimal,” Cooper said. “Our goal is to be able to pinpoint features that allow doctors to identify babies at risk soon after birth. This will help us develop and test precision treatments that target the underlying genetic mechanisms and to begin such treatment faster.”
Babies can be referred by medical professionals to ERGENT from anywhere in the United States. Any medical provider may contact ERGENT using a brief online form. If a patient is eligible (and parents provide consent), the study provides testing for more than 180 genes. Results are returned to the treating physician and family approximately two weeks after serum collection.
“Evidence suggests that babies with genetic epilepsy may benefit from specialized treatments that are already available,” said Tsuchida, an associate professor of neurology and pediatrics at George Washington University School of Medicine and Health Sciences. “Newer treatments are being developed now, including both drugs previously used in adults and newer compounds tailored to specific types of genetic epilepsy. These hold promise but remain untested.”
Millichap, an associate professor of pediatrics and neurology at Northwestern University Feinberg School of Medicine, said, “Novel laboratory techniques are available for identifying compounds that treat a patient’s specific type of genetic epilepsy. Our group of collaborators is working to make early diagnosis and testing more available to maximize the potential benefits of these new treatments.”
ERGENT is funded by the Jack Pribaz Foundation, the KCNQ2 Cure Alliance and the FamilieSCN2A Foundation, all nonprofit organizations led by the parents of children with neonatal onset genetic epilepsies.