“The Cute Syndrome Foundation reached out because children with this disorder are dying. They were hoping to find a way to make more people, especially medical professionals, aware of this disorder and treatment recommendations,” said John Schreiber, M.D.

Children’s National Health System is proud to share that they have launched into a 6-month pilot research program to evaluate and improve education and access to care for SCN8A-related epilepsy. Due to advances in genetic testing, more patients with SCN8A mutations and other rare genetic epilepsies are being discovered all the time.

The research for the pilot program is being led by John Schreiber, M.D., assistant professor of neurology and pediatrics and director of the epilepsy genetics program at Children National. Dr. Schreiber will help to develop a more focused effort to provide families and clinicians with the Clinician Information and Reference Guide that was created by The Cute Syndrome Foundation. The goal of the information is to provide families and clinicians with a guide to remove barriers to access expert care.

“The Cute Syndrome Foundation reached out because children with this disorder are dying. They were hoping to find a way to make more people, especially medical professionals, aware of this disorder and treatment recommendations,” said Dr. Schreiber. “We’re at a critical point of collecting information as patients from around the world are looking at Children’s National as a leader to combat this type of disorder.”

As the first study of its kind in a rare genetic epilepsy, the pilot will provide the opportunity for future interventions that will help elevate the profile of SCN8A-related disorders, improve overall patient outcomes and facilitate collaborative partnerships that focus on research and on supporting positive outcomes for patients.

To help uncover barriers to accessing expert advice, the SCN8A survey was given out to over 200 health care professionals at Children’s National 2019 Pediatric Neurology Update meeting. Specifically, the study will help doctors at Children’s National increase provider knowledge of SN8A-related disorders, improve utilization of appropriate anti-seizure therapies and may ultimately end up reducing mortality.

Children’s National received a gift of $15,397 to establish the SCN8A Education and Research Fund, which will support research within the Comprehensive Pediatric Epilepsy Program to evaluate access to and increase awareness of SCN8A epileptic encephalopathy and treatment recommendation from experts in the field. The funds will be used for personnel, technology and material costs associated with the research.