STXBP1 Community Shines at AES Meeting: A Recap
The American Epilepsy Society (AES) annual meeting is where epilepsy experts unite, and this year's gathering was especially significant for the STXBP1 community. With over 5000 attendees, AES is the go-to for cutting-edge research, networking, and collaboration.
Why AES?
AES is a knowledge hub, and for us, it's a chance to stay updated, connect with researchers, and bond with fellow advocacy groups for rare neurodevelopmental disorders and epilepsies.
STXBP1 Highlights
This year, STXBP1 took the spotlight with 13 scientific posters, a big leap from the 5 in 2019. Among them, exciting projects like the STXBP1 mouse model at UCB Pharma, potential promise for biomarker development, and the STXBP1 ENGAGE study, indicating our great progress. We also shared a study across developmental encephalopathies presented by Mathieu Milh from in France and a poster on comparing EEGs for STX'ers with normal controls, and seeing differences in alpha power from Peter Galer at Children's Hospital of Philadelphia
STARR Natural History Study Update
The STARR Natural History Study for STXBP1 is moving fast. We had our first-ever meeting with all clinical sites, discussing the first set of patients seen in the study. Impressive 65 participants will complete their first clinical visit by December's end. Kudos to our community! The current four sites are at Children's Hospital of Philadelphia, Colorado Children's, Baylor Texas Children’s and Weill-Cornell in New York. Learn more at naturalhistory@stxbp1disorders.org
Rare Epilepsy Network and Advocacy
Our involvement in biopharma meetings and representation at the Rare Epilepsy Network reflects our commitment to progress. Board member Melissa Hioco shared insights on a caregiver panel, emphasizing the importance of a diagnosis for rare families.
Parents Playing Their Part
In addition to our board, we had John and Izabella Oldenhof, parents from Canada, and Souha Mahmoudi, mom based in Orlando. We want to thank you Izabella, John, and Souha, for your help manning our busy information table, with lots of clinicians and researchers coming by!
In a nutshell, the AES meeting showcased the strides made by the STXBP1 community. Researchers, clinicians, and advocates are united, and our momentum is building. If you're curious about the presented posters, go here and search for “STXBP1”. Stay tuned for more updates.
