ESCO consortium takes off with new funding and EMA application

06 November 2023

The European STXBP1 COnsortium (ESCO, was established in 2021 with eight partner countries in the EU, coordinated by VU/AUMC. All partners have now signed the consortium agreement and ESCO secured its 1st funding.

STXBP1 related disorders (STXBP1-RD), are the most common group of SNAREopathies, disorders caused by pathogenic variation in genes that regulate the secretion of chemical signals in the brain. With an incidence of 1:30.0000, STXBP1-RD is one of the most common monogenic neurodevelopmental dis-orders. The disorder is characterized by severe developmental delay, intellectual disability, motor deficits and seizures. Since decades STXBP1 has been a focus of research in Amsterdam and since 2018, patient family days are organized at AUMC.
AUMC and VU have worked together with industry to develop animal and human disease models for STXBP1-RD and to design and test new therapies. In parallel, ESCO aims to prepare the field for successful and efficient evaluation of new therapies for STXBP1-RD and promote equal and evidence-based access to new therapies. Starting Q1 2024, ESCO will direct a natural history study (NHS) in eight EU sites + Israel. ESCO has secured its first funding from the international STXBP1 foundation. Several letters of intent have been signed by pioneer sponsors (industry). In parallel, ESCO has applied for the Innovative Tools program at EMA to be able to exploit the NHS as a concurrent control arm for future clinical trials.
ESCO was established in 2021 by Matthijs Verhage (VU/AUMC) and Ganna Balagura (Gaslini Hospital Genua, IT). Together with Andrea Soto Padilla, business developer at IAO/IXA Neuro, they form ESCO’s executive board. The eight partner countries are NL, BE, IT, DK, DE, FR, SP and IL. See for more information.