Dr Zach Grinspan Receives Pilot Grants To Fund STXBP1 Encephalopathy Intervention Research at Weill Cornell Medicine

Dr. Zach Grinspan and Weill Cornell Medicine investigators are leading the development of a pilot treatment protocol for STXBP1 encephalopathy with epilepsy.

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.

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The STXBP1 Foundation is a NORD Platinum Member organization

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Michael Boland & Wayne Frankel Receive SFARI 2020 Research Grant