Weill Cornell Medicine researchers are leading the development of a pilot treatment protocol for STXBP1 encephalopathy with epilepsy with a new grant from The Orphan Disease Center and Clara Inspired. STXBP1 encephalopathy is a devastating neurological disorder that starts in infancy. Children with STXBP1 encephalopathy typically have seizures, movement disorders, and moderate to profound developmental delay and cognitive impairment.
In a revolutionary study, Dr. Jacqueline Burré and her colleagues found that a medication called phenylbutyrate can act as chemical chaperone to stabilize functional STXBP1. This study aims to take phenylbutyrate as a treatment option into clinical practice.
Led by Dr. Zachary Grinspan, director of Pediatric Epilepsy, investigators at Weill Cornell Medicine will administer phenylbutyrate to ten children with STXBP1 encephalopathy. Interviews will also be conducted with family members to learn about their experience with STXBP1 and the study drug. Researchers have three goals: pilot an evaluation protocol, assess the potential for efficacy, and assess serum levels of active metabolites in the patient population.
“We are thrilled to work together with Dr. Burré and her team to take this potential treatment and give it to children with STXBP1 encephalopathy. It’s a rough disease with severe neurological complications. The families of the affected children are so enthusiastic for the trial,” said Dr. Grinspan. “The medication works in the lab, but we don’t know yet if it will work for the patients. This first-in-disease study is really about safety and tolerability, but we will be looking also to see if there are any clinical benefits.”