STXBP1 1st European Summit & Research Roundtable 2023 Session Recordings
Research Roundtable Day 1: STXBP1 in the Lab
May 16, 2023
Opening & Session I: Mechanisms and models of disease in STXBP1-related disorders
Session I: Part 1
Opening and Introduction: G. Balagura - University of Genoa
A history of STXBP1 research: where are we now: M. Verhage - Vrije Universiteit Amsterdam
Single cell transcriptional changes in an STXBP1 mouse model: A. Roig Adam - Vrije Universiteit Amsterdam
Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability, rescue with AMPAkines: A. Britos dos Santos, J. F. Perrier - University of Copenhagen
Disease-linked mutations in Munc18-1 deplete synaptic proteins: N. Guiberson - Weill-Cornell Medicine
Synaptic phenotypes in patient-derived neurons: J. Sørensen - University of Copenhagen
Network defects and proteome changes in patient-derived neurons: M. Öttl - Vrije Universiteit Amsterdam
Modelling STXBP1 encephalopathy in human brain slice cultures: F. McLeod - Newcastle University
Early Network Activity in a mouse model of STXBP1 disorder: P. P. Lenck-Santini - INSERM
qEEG analysis in STXBP1-disorders: K. Linkenkaer-Hansen - Vrije Universiteit Amsterdam
Session II: Pipeline towards therapies for STXBP1-related disorders
Session II: Part 1
Fly screen with small molecules: L. Neukomm, C. Schäfer - University of Lausanne
ASOs and miRNA modulation for STXBP1-RD: B. Prosser - University of Pennsylvania
Uncovering the biology of STXBP1 poison exons: L. Janssen - Vrije Universiteit Amsterdam
Gene replacement therapy design: R. Toonen - Vrije Universiteit Amsterdam
A preclinical pharmacology study of AAV gene therapy in a mouse model of STXBP1 encephalopathy: M. Xue - Baylor University
Roundtable of pre-clinical researchers: Chair M. Verhage - Vrije Universiteit Amsterdam. Panelists: A. Dolado, N. Guiberson, F. McLeod, B. Prosser, J. Sørensen, M. Xue
Research Roundtable Day 2: STXBP1 in the Clinic
May 17, 2023
Session III: The clinical spectrum and standard of care in STXBP1-related disorders
Multilevel phenotyping of STXBP1 patients: the N=You approach: H. Bruining - Vrije Universiteit Amsterdam
Sensory and behavioral profiles in people with STXBP1-RD: A. Fetta - University of Bologna
STXBP1 ENGAGE Study: Capturing Patient and Family Lived Experiences: J. Gofshteyn - Encoded
Childrens’ Colorado model of a Neurogenetic Multidisciplinary Clinic: S. Demarest - Children’s Hospital Colorado
Launch of the European STXBP1 registry: F. Furia, G. Balagura, H. Stamberger, E. Gardella - Danish Epilepsy Centre, University of Genoa, University of Antwerp - VIB
The role of 4-Phenyl-Butyrate in STXBP1-RD: clinical trial updates: Z. Grinspan - Weill-Cornell Medicine
Standardized assessments in physical and occupational therapy in STXBP1-related disorders: S. Pierce, K Cunningham - Children's Hospital of Philadelphia
Cortical Visual Impairment in STXBP1-RD: M. Abbott - Children’s Hospital Colorado
The emerging scope of neuropsychological abilities in STXBP1: A. Miele - Children’s Hospital Colorado
Session IV: The future therapeutic landscape in STXBP1-related disorders: what to treat, how to measure?
Session IV: Part 1
Introduction to the session: Targeted therapies for STXBP1-RD: J. Goss - STXBP1 Foundation
EEG in STXBP1-RD: not only epilepsy: E. Gardella - Danish Epilepsy Centre
Characterizing gait deviations in DEE and potential impact for rehabilitation: A. Hallemans - University of Antwerp - VIB
Gut-brain axis in epilepsy and autism: E. Russo - University Magna Graecia of Catanzaro
Session IV: Part 2
Prospective, Multi-Site Natural History Study of STXBP1-related Disorder: S. Ruggiero - Children's Hospital of Philadelphia
ESCO natural history study: G. Balagura, M. Verhage - University of Genoa, Vrije Universiteit Amsterdam
The Loulou Foundation CDKL5 pre-competitive consortium: X. Liogier - loulou Foundation
Virtual clinical trials and seizure prediction in STXBP1-related disorders: J. Xian - Children's Hospital of Philadelphia
Roundtable of clinical researchers and industry: Chair A. Soto Padilla - Vrije Universiteit Amsterdam. Panelists: H. Bruining, H. Cahan, S. Demarest, J. Gofshteyn, C. Son Rigby
Approaching Regulatory Frameworks for Clinical Outcome Measures & Biomarkers: J. Panagoulias - Angelman Syndrome Biomarker and Outcome Measure Consortium, Mahzi Therapeutics
Families & Researcher Day 3: STXBP1 in the Home
May 18, 2023
Session V: STXBP1 in the Home
Family community development and integration: C. Son Rigby - STXBP1 Foundation
Overview of progress and state of the art (day 1+2): G. Balagura & H. Stamberger
Regional STXBP1 associations: introductions & goals: Chair C. Son Rigby
Italy: L. Frassine, Spain: A. Regatero, Israel: L. Dor, France: C. Legré, Germany: G. Schnur, Poland: J. Marut, Brasil: T. Rovaris, USA: C. Son Rigby, Netherlands: R. Martina, Belgium: G. Van Looveren, Sweden: H. Henningsson, Slovakia & Hungary: L. Zuzkovicova, Canada: I. Oldenhof
Roundtable of PAOs, health care professionals and researchers: Chair C. Son Rigby - STXBP1 Foundation. Panelists: A. Azzola, L. Frassine, F. Furia, C. Legré, J. Oldenhof, H. Stamberger, S. Syrbe, M. Verhage
Roundtable of STXBP1 families: Chair C. Son Rigby - STXBP1 Foundation. Panelists: A. Azzola, L. Dior, L. Frassine, R. Martina, J. Marut, A. Regatero, G. Van Looveren, L. Zuzkovicova