Dr. Zachary Grinspan (center) with child health advocates
In August, Zachary Grinspan, M.D., M.S., pediatric neurologist and Director of the Weill Cornell Medicine Pediatric Epilepsy Program, hosted parents, advocates and friends of children with STXBP1 encephalopathy and SLC6A1 neurodevelopment disorder at Griffis Faculty Club in gratitude for funding a pilot study for both disorders.
STXBP1 encephalopathy and SLC6A1 neurodevelopment disorder are both potentially devastating neurological diseases associated with developmental delay, seizures and movement disorders. Dr. Grinspan is the primary investigator for a pilot clinical trial to use phenylbutyrate for STXBP1 encephalopathy and SLC6A1 neurodevelopment disorder. The trial grew from innovative bench neuroscience research by Jaqueline Burré, Ph.D., a federally funded neuroscientist at Weill Cornell Medicine. Several parent-led advocacy groups raised money for the clinical study, including SLC6A1 Connect, the STXBP1 Foundation, Lulu’s Crew, the Orphan Disease Center at the University of Pennsylvania and Clara Inspired.
The study is the first clinical trial for both disorders. Results from the study are expected in late 2022/early 2023.
Dr. Zachary Grinspan
