A $1.1 million grant from the parent-caregiver-led Rare Bird Foundation to Weill Cornell Medicine is supporting the launch of a natural history study for a rare neurodevelopmental disorder that causes developmental delays and seizures called MEF2C Haploinsufficiency syndrome (MCHS).
Currently, there are no specific therapies for MCHS, which affects about 400 people worldwide. Patients with the condition may experience developmental delays, difficulties communicating, and frequent seizures. The goal of the study, coined the Volāre Study, is to collect vital information about the condition to lay the necessary groundwork for future clinical trials of therapies for MCHS.
“The drive for this study comes from the parents of children with MCHS,” said principal investigator Dr. Zachary Grinspan, director of the Pediatric Epilepsy Program at Weill Cornell Medicine and vice chair of health data science for the Department of Pediatrics at Weill Cornell Medicine and NewYork-Presbyterian Komansky Children’s Hospital of Children’s Hospital of New York. “They share a sense of urgency to bring treatments to their kids and to others who have the disease. It makes the work very personal and meaningful for our team.”