Protocol and Recruitment. Here we present a comprehensive and feasible protocol for evaluating the natural history of STXBP1 (STARR) and SYNGAP1 (ProMMiS) using existing outcome measures within the framework of a clinical visit. Recruitment is ongoing, with n=323 individuals evaluated to date. Study protocol includes standardized clinical assessments, parent-reported outcomes, quantitative EEG and movement sensors, and detailed seizure histories. Consortium structures have been established for both studies allowing data generation from multiple sites in an FDA-compliant format for collaboration with industry partners, advocacy organizations, and researchers.

Preprint alert 🚀

Our new paper outlines a prospective NHS protocol built to support clinical trial readiness in SYNGAP1 and STXBP1.

The protocol already powers STARR and ProMMiS.

🔗 www.medrxiv.org/content/10.6...

#SYNGAP1 #STXBP1 #DEE #ClinicalTrials

Capsida Receives FDA IND Clearance for Its First-in-Class, IV-administered Gene Therapy for STXBP1 Developmental and Epileptic Encephalopathy - Capsida Biotherapeutics CAP-002 is the first engineered IV-delivered gene therapy that crosses the blood-brain-barrier and detargets the liver and dorsal root ganglia to enter the clinic THOUSAND OAKS, Calif., May 12, 2025 —...

Hope for our #STXBP1 community 💜❤️💜
capsida.com/capsida-rece...

6º Encuentro Científico y Familiar del Síndrome STXBP1

📅 Sábado 31 de mayo
📌Salón de Actos de CABIMER

Inscripción gratuita (plazas limitadas)
docs.google.com/forms/d/e/1F...

#STXBP1Spain #apoyosintaxina #STXBP1 #EncuentroSTXBP1

AES 2024: THE FUTURE IS NOW — DRACAENA The American Epilepsy Society (AES) meeting is the largest epilepsy meeting of the year, and because it takes place every month of December it also serves as an annual review on the understanding and ...

Here are my highlights from the progress that we saw at #AES2024 for rare epilepsy syndromes:
1 - The future is now: tangible progress in disease-modification
2 - Beyond seizures in DEEs
3 - Beyond the largest DEEs

www.draccon.com/dracaena-rep...
#Dravet #SYNGAP1 #STXBP1 #CDKL5

4-Phenylbutyrate for STXBP1 and SLC6A1. Safety, tolerability, seizure, and EEG outcomes. A case series at 2 centers Introduction Pathogenic mutations in STXBP1 and SLC6A1 can cause developmental delay and epilepsy. 4-phenylbutyrate (4PB), a drug used for urea cycle disorders, rescues dysfunction in pre-clinical mod...

Promising study from Zach Grinspan and colleagues for #STXBP1 patients 🧪
www.medrxiv.org/content/10.1...

Capsida Biotherapeutics to Showcase Advances in Gene Therapy at Evercore HealthCONx Conference Capsida Biotherapeutics is set to present its pioneering gene therapies for various neurological conditions at the upcoming Evercore HealthCONx Conference, highlighting innovative treatments.

Capsida Biotherapeutics to Showcase Advances in Gene Therapy at Evercore HealthCONx Conference #United_States #Coral_Gables #Capsida_Biotherapeutics #gene_therapy #STXBP1