Research and Innovation

Our team of clinicians and scientists is active in research related to multiple types of synaptopathies.

Natural history studies are performed to better understand how these disorders evolve over time and to lay the groundwork for possible future therapies. During this type of study, you can expect your child to undergo a comprehensive one- to two-day evaluation. Our multidisciplinary team comes together to see your child and your family all at once. Your child will also undergo electroencephalogram (EEG) and possible lab testing. The collective data from the study can help us make new discoveries.

We invite you to contact us to learn how your child can participate in these observational clinical trials.

These studies currently include the following:

• STARR Natural History Study for STXBP1: We partner with the STXBP1 Foundation and Children’s Hospital of Philadelphia to run an observational clinical trial (natural history study) called STARR for children with STXBP1-related disorders.
• PRoMiSS Natural History Study for SYNGAP1: We partner with CURE SYNGAP1 and Children’s Hospital of Philadelphia to run an observational clinical trial (natural history study) called PRoMiSS for children with SYNGAP1-related disorders to better understand synaptopathies.
• The Knowles Lab at the Stanford School of Medicine: This lab conducts basic and translational research focused on how epilepsy and autism develop in synaptopathies and other forms of genetic epilepsy, and how we can better treat synaptopathies.