STXBP1 Summit+ 2022 Session Recordings
Research Roundtable Sessions from Friday, August 19, 2022
Welcome
Session
Kick-Off: Charlene Son Rigby & James Goss, PhD – STXBP1 Foundation
Featured Family Story: Jared Barnum & Georgia's Story – STXBP1 Foundation
Clinical Update
Session
Open questions in STXBP1-related disorders: Ingo Helbig, MD - Children's Hospital of Philadelphia
Natural history study- clinical spectrum, epilepsy, and developmental outcomes: Kim Thalwitzer - University Hospital Heidelberg
A natural history study of STXBP1-related disorders through 259,265 phenotypic annotations reconstructed from medical records: Julie Xian - Children’s Hospital of Philadelphia
Update of 4-Phenylbutyrate Trial in STXBP1 Children: Zach Grinspan, MD, MS - Weill Cornell Medicine
Clinical Trial Readiness
Session
Development of a Disease Concept Model for STXBP1 Disorders: Katie Rose Sullivan - Children's Hospital of Philadelphia
ESCO: an EU Consortium to Promote Trial Readiness for STXBP1 Disorders: Ganna Balagura, MD, PhD - University of Genoa
Developing EEG Biomarkers for STXBP1: Jay Pathmanathan, MD - Beacon Biosignals
The Contribution of EEG Analysis to Deep Phenotyping of STXBP1-DEE: Elena Gardella, MD, PhD - Univ of Southern Denmark
Therapeutic Development Updates
Session Part 1
A Zebrafish Model for STXBP1: Scott Baraban, PhD - University of California San Francisco
Editing the Epigenome: Molly Reilly, PhD - University of Pennsylvania
AAV gene therapy for STXBP1 encephalopathy: Wu (Charles) Chen, PhD - Baylor College of Medicine
Use of 2D and 3D Human Pluripotent Stem Cell Cultures to Interrogate STXBP1 Variants: Wei Niu, PhD - University of Michigan
Developing ASO therapeutics using deeply powered functional measurements of human neurons: Luis Williams, PhD - Q-State Biosciences
Session Part 2
EIEE STXBP1: Genotype/phenotype correlation, molecular comorbidity, and advanced experimental therapy: Francisco J Esteban, PhD - University of Jaen
Development of ASO Therapeutics: Alex Felix, PhD - University of Pennsylvania
Disease mechanisms and rescue strategies for STXBP1 encephalopathies: Jacqueline Burre, PhD - Weill Cornell Medicine
Advancing treatments for STXBP1: Wendy Gold, PhD - University of Sydney
Family Meeting Sessions from Saturday, August 20, 2022
Welcome
Session
Featured Family Story: Cristina Brennan
Kick-Off and Foundation Remarks: Charlene Son Rigby
Clinical Session
Session
STXBP1 Clinical Update: Ingo Helbig, MD - Children's Hospital of Philadelphia
Genetics 101: Kate Rose Sullivan - Children's Hospital of Philadelphia
A Disease Concept Model for STXBP1 Disorders: Katie Rose Sullivan - Children's Hospital of Philadelphia
Evidence Based Physical and Occupational Therapy Strategies: Samuel Pierce, PT, PhD, NCS & Kristin Cunningham, MS, OTR/L - Children's Hospital of Philadelphia
Translational Research
Session
Genetic Therapy Overview and ASO Development: Ben Prosser, PhD - University of Pennsylvania
STXBP1 mouse models and gene therapy development: Mingshan Xue, PhD - Baylor College of Medicine
Clinical Trial Readiness and Natural History Studies
Session Part 1
Clinical Trial Readiness: Terry Jo Bichell, PhD - COMBINEDBrain
Simons Searchlight & STXBP1 Study Update: Paul Wang, MD - Simons Foundation
Neuropsychological Evaluations at Children’s Hospital Colorado’s Neurogenetics Clinic: Andrea Miele, PhD - Children’s Hospital Colorado
A multi-center natural history study in pediatric patients with STXBP1 encephalopathy with epilepsy: Alana Salvucci, DO - Capsida Biotherapeutics
Session Part 2
ESCO: The European STXBP1 Consortium Promoting STXBP1 Syndrome Trial Readiness: Ganna Balagura, MD PhD - University of Genoa
Watch the entire Family Meeting all at once from start to finish in our Livestream recording
Therapy Development
Session
Fintelpa: Clara Schad, MD, MS - UCB/Zogenix
Biomarkers and how they can be used for STXBP1 drug development: James Goss, PhD - STXBP1 Foundation
4-Phenylbutyrate Trial Update: Zachary Grinspan, MD, MS - Weill Cornell Medicine