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.”
Dr. Grinspan will conduct the study with co-principal investigator Dr. M. Elizabeth Ross, the Nathan Cummings Professor of Neurology and head of the Laboratory of Neurogenetics and Development in the Feil Family Brain and Mind Research Institute at Weill Cornell Medicine. They lead a multidisciplinary team that includes Dr. Jennifer Cross, a developmental pediatrician; Dr. Dara Jones, a pediatrician and physiatrist; and Ji-Sun Kim, a genetic counselor; as well as dedicated research staff Amelia Stone, Natalie Wayland and Natasha Basma. NewYork-Presbyterian provides additional support from their occupational therapy team to conduct assessments.
Dr. Grinspan worked closely with the parent-advocates at the U.S.-based Rare Bird Foundation to meticulously plan the study. It will include an online registry, virtual patient cohort, and in-person cohort of patients who will travel to New York for medical and behavioral exams and collection of patient samples. The foundation will help offset family travel costs.
Weill Cornell Medicine and NewYork-Presbyterian/Weill Cornell Medical Center were recently designated a Rare Disease Center of Excellence by the National Organization for Rare Disorders, making it an ideal home for the Volāre Study.
“There is a spirit of collaboration and interdisciplinary work that is part of our DNA at Weill Cornell Medicine,” Dr. Grinspan said.
In that spirit, a multidisciplinary team of clinicians and investigators will conduct intensive evaluations of each child participating in the study over multiple visits to provide baseline developmental trajectory information critical for measuring the benefits of new therapies in future clinical trials. For example, it should provide information on the normal progression of the condition, such as whether children’s symptoms plateau or continue to worsen over time. Clinical trial investigators can use this information to create meaningful endpoints for clinical trials and measure how therapies alter the course of the disease.
The Volāre Study also establishes the infrastructure, clinician and scientific collaborations, and patient cohorts that will be needed to get future multicenter, multinational clinical trials running quickly for experimental therapies that are already in development.
“Together with our international collaborators, we look forward to expanding the Volāre Study across the globe and showcasing our patient population’s eagerness to change the course of this devastating disease,” said Isra Bhatty, director for strategic partnerships at the Rare Bird Foundation.
