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Please download the complete program as pdf file here
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RESEARCH SUMMIT DAY 1 | WEDNESDAY 8th
| 14.00 | Registrations |
| 14.30 | Kick-Off Steffen Syrbe (Heidelberg) |
| 14.45 | Session 1: Shared and distinct mechanisms for monogenic neurodevelopmental disorders |
| Introduction to SNAREopathies Matthijs Verhage (Amsterdam) SNAREopathies; the SYT1 case Niels Cornelisse (Amsterdam) Inborn errors of synaptic transmission Thomas Opladen (Heidelberg) Autophagy in epileptic disorders from SNAP-SNARE-synaptopathies Afshin Saffari (Heidelberg) Hot topic emerging in 2025 | |
| 16.00 | Coffee break |
| 16.15 | Session 2: Disease mechanisms of STXBP1 |
| New disease mechanisms for STXBP1 missense mutations Sylvia Korhorn (Amsterdam) Syntaxin Dysfunctions Jacqueline Burre (New York) 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) | |
| 17.45 | Expert discussion |
| 18.15 | Conference reception |
RESEARCH SUMMIT DAY 2 | TUESDAY 9th
| 9.00 | Session 3: Clinical science on STXBP1-related disorders |
| Gait control study for STXBP1 related disorders Hannah Stamberger (Antwerpen) Mild cases of STXBP1 Francesca Furia (Dianalund) MRI study of STXBP1-related disorders Matteo Lenge/Alice Dainelli (Florence) Hot topic emerging in 2025 Hot topic emerging in 2025 | |
| 10.15 | Coffee break |
| 10.30 | Session 4: Standard of care of STXBP1-related disorders |
| New insights into epileptic encephalopathies Steffen Syrbe (Heidelberg) Clinical update on STXBP1-related disorders Ingo Helbig (Philadelphia) Delphi protocol for STXBP1 Ganna Balagura (Genoa) Hot topic emerging in 2025 Hot topic emerging in 2025 | |
| 11.30 | Expert discussion |
| 12.15 | Lunch break & poster session |
| 13.45 | Session 5: Therapeutic development I |
| Rafa‘s Moonshot and the potential of NMN Hila Ben-Moshe (Tel Aviv) ASO startegies to treat STXBP1 haploinsufficiency Ben Prosser (Philadelphia) CRISPRa strategies to treat STXBP1 haploinsufficiency Nathan Henderson (Philadelphia) Genetic Therapy Development in mice Mingshan Xue (Houston) Disease-Modifying Treatment for STXBP1: rAAV CAP-002 Capsida Biotherapeutics | |
| 15.00 | Coffee break |
| 15.15 | Session 6: Therapeutic development II |
| Targetet RNA editing as a potential treatment for G>A Mutations in STXBP1-Related Disorders Gad Vatine (Beer Sheva) Natural History Study and Gene Therapy for DRAVET syndrome Andreas Brunklaus (Glasgow) Implementation of gene therapy – lessons learned from neuromuscular diseases Andreas Ziegler (Heidelberg) Hot topic emerging in 2025 Hot topic emerging in 2025 | |
| 16.30 | Expert Discussion |
| 19.00 | Conference reception |
RESEARCH SUMMIT DAY 3 | FRIDAY 10th
| 9.00 | Session 7: Biomarker and endpoint development |
| 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) Smartphone applications for seizure diaries ESCO Multiomics biomarkers in STXBP1 Ganna Balagura (Genoa) | |
| 10.15 | Coffee break |
| 10.30 | Session 8: Clinical trial readiness |
| 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) | |
| 11.45 | Expert discussion |
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