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Please download the complete program as pdf file here.
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RESEARCH SUMMIT DAY 1 | WEDNESDAY 8th
| 13.00 | Registrations |
| 14.20 | Kick-Off: Steffen Syrbe (Heidelberg) |
| 14.30 | Session 1: Shared and distinct mechanisms for monogenic neurodevelopmental disorders |
| Chair: Matthijs Verhage (Amsterdam) Introduction to SNAREopathies: Matthijs Verhage (Amsterdam) SNAREopathies; the SYT1 case: Niels Cornelisse (Amsterdam) Syntaxin Dysfunctions: Jacqueline Burre (New York) Inborn errors of synaptic transmission: Thomas Opladen (Heidelberg) | |
| 15.50 | Coffee break |
| 16.20 | Session 2: Disease mechanisms of STXBP1-related disorders |
| Chair: Ruud Toonen (Amsterdam) Functional analysis of STXBP1 missense mutations discriminates three disease mechanisms: Sylvia Korhorn (Amsterdam) In vitro modeling of Patient-Specific STXBP1 Variants: Caroline Pearson (New York) STXBP1 haploinsufficiency and homeostatic responses at the cellular levels: Romina Ambrosini Defendi (Amsterdam) Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability: Jean-Francois Perrier (Copenhagen) Early developmental effects of STXBP1 deficiency: Matthew Vanheusden (Amsterdam) | |
| 17.40 | Expert discussion – Chair: Matthijs Verhage (Amsterdam) |
| 18.30 | Conference reception |
RESEARCH SUMMIT DAY 2 | THURSDAY 9th
| 9.00 | Session 3: Clinical science on STXBP1-related disorders |
| Chair: Kim Thalwitzer (Heidelberg) Gait control study for STXBP1 related disorders: Hannah Stamberger (Antwerpen) Mild cases of STXBP1 related disorders: Francesca Furia (Dianalund) Longitudinal study on STXBP1: Antonio Gil Nagel team (Madrid) MRI study of STXBP1-related disorders: Matteo Lenge/Alice Dainelli (Florence) Clinical update on STXBP1-related disorders: Helbig Group | |
| 10.20 | Coffee break |
| 10.50 | Session 4: Therapeutic development – lessons from other neurodevelopmental disorders |
| Chair: Bruria Ben-Zeev (Ramat Gan) Introduction to precisional therapies in DEEs: Bruria Ben-Zeev (Ramat Gan) Recent advances in treating DEEs – lessons from Dravet & Lennox Gestaut: Allan Bayat (Dianalund) From innovative diagnostics to personalized treatments – lessons from ASO development in SCN2A: Matias Wagner (Munich) Implementation of gene therapy – lessons learned from neuromuscular diseases: Andreas Ziegler (Heidelberg) | |
| 12.00 | Lunch break & poster session |
| 13.20 | Session 5: Standard of care and current therapies for STXBP-related disorders |
| Chair: Ganna Balagura (Genoa) Introduction & Delphi protocol for STXBP1: Ganna Balagura (Genoa) Updates from the Ravicti Study: Millie Stone (New York) Disease-Modifying Treatment for STXBP1: rAAV CAP-002: Capsida Biotherapeutics Rafa‘s Moonshot and the potential of NMN: Hila Ben-Moshe (Tel Aviv) | |
| 14.25 | Group photo + Coffee break |
| 15.00 | Session 6: New therapy development for STXBP1-related disorders |
| Chair: James Goss Therapy development in human neurons in vitro: Ana Carreras Mascaro (Neurospector) Therapy development in mice: Mingshan Xue (Houston) ASO strategies to treat STXBP1 haploinsufficiency: Ben Prosser (Philadelphia) Targetet RNA editing as a potential treatment for G>A Mutations in STXBP1-Related Disorders: Gad Vatine (Beer Sheva) CRISPRa strategies to treat STXBP1 haploinsufficiency: Nathan Henderson (Philadelphia) Advancing STXBP1 Research: Structural Insights and Computational Approaches for Small Molecule Discovery: Efrat Ben-Zeev (Rehovot) | |
| 16.40 | Roundtable 1 – Promoting academia-industry partnership – Chair: Claudia Persoon (Neurospector) |
| 19.00 | Conference dinner |
RESEARCH SUMMIT DAY 3 | FRIDAY 10th
| 9.00 | Session 7: Biomarker and endpoint development |
| Chair: Elena Gardella (Dianalund) EEG-biomarker studies: Hilgo Bruining (Amsterdam) Mapping the resting state EEG functional connectome in STXBP1 syndrome: Additya Sharma (Amsterdam) qEEG based quantification of developmental consequences in STXBP1 syndrome: Shilpa Anand (Amsterdam) Quantitative EEG biomarkers of severity in STXBP1-related disorders: Jillian McKee (Philadelphia) Plasma biomarkers for STXBP1-related disorders: Laura Wetzel/Jan Lui (BioMarin) | |
| 10.10 | Coffee break |
| 10.40 | Session 8: Clinical trial readiness |
| Natural History Study and Gene Therapy for DRAVET syndrome: Andreas Brunklaus (Glasgow) The STARR natural history study: Sarah Ruggiero (Philaladelphia) The ESCO registry: Elena Gardella (Dianalund) The ESCO natural history study: Hannah Stamberger (Antwerpen) A consensus Clinical Global Impression (GCI) scale for STXBP1 Disorders: Sarah Tefft (Philadelphia) Pilot and Validation of a novel STXBP1-Clinical Severity Assessment: Megan Abbott (Colorado) The best version of the Bayley 4 for STXBP1: an item analysis: Andrea Miele (Colorado) | |
| 12.10 | Expert discussion |
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