2025 European STXBP1 Research Roundtable Recordings
Links to released presentation recordings from the Research Roundtable are available on this page. More coming soon!
Session 6: Therapy approaches for STXBP1-related disorders II
CRISPRa strategies to treat STXBP1 haploinsufficiency: Nathan Henderson (Philadelphia)
Rafa‘s Moonshot and the potential of NMN: Hila Ben-Moshe (Tel Aviv)
Session 8: Clinical trial readiness
The STARR natural history study: Samuel Pierce (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)
The best version of the Bayley 4 for STXBP1: an item analysis: Andrea Miele (Colorado)
Session 3: Clinical science on STXBP1-related disorders
Gait control study for STXBP1 related disorders: Merel Swinnen (Antwerpen)
STXBP1 cohort description: Adrián Valls Carbó (Madrid)
Session 5: Therapy approaches for STXBP1-related disorders I
Updates from the Ravicti Study: Millie Stone (New York)
Rafa‘s Moonshot and the potential of NMN: Hila Ben-Moshe (Tel Aviv)
Session 4: Therapeutic development - lessons from other neurodevelopmental disorders
Recent advances in treating DEEs – lessons from Dravet & Lennox Gestaut: Allan Bayat (Dianalund)