Recently, the European STXBP1 Consortium (ESCO) was established, uniting Amsterdam UMC and seven prominent partners. ESCO expects to be supported by several industry partners and announced the initiation of formal proceedings with the European Medicines Agency (EMA).
Neurological disorders
STXBP1 related disorders (STXBP1-RD) are the most common group of SNAREopathies – neurological disorders caused by changes in genes that control how the brain releases chemical signals. With a frequency of 1 in 30,000, STXBP1-RD lead to developmental delays, intellectual disability, motor issues, and seizures. Research on STXBP1 has been ongoing in Amsterdam for decades, and patient family events have been organized at AUMC since 2018.
ESCO and collaborations
Amsterdam UMC and Vrije Universiteit Amsterdam have worked together with industry to develop animal and human disease models for STXBP1-RD and to design and test new therapies. ESCO aims to prepare the field for the successful and efficient evaluation of new therapies for STXBP1-RD and to promote equal and evidence-based access to new treatments. Starting in Q1 2024, ESCO will conduct a natural history study (NHS) in seven EU countries and Israel. ESCO received its first funding from the international STXBP1 Foundation and has gained support from industry pioneers through several signed letters of intent. ESCO has also applied for the Innovative Tools program at the EMA to be able to use its NHS in future clinical trials.
ESCO was established in 2021 by Matthijs Verhage (Vrije Universiteit Amsterdam/Amsterdam UMC) and Ganna Balagura (Gaslini Hospital Genoa, Italy). Along with Andrea Soto Padilla, a business developer at IAO/IXA-Amsterdam Neuroscience, they form ESCO’s executive board. The eight partner countries (NL, BE, IT, DK, DE, FR, SP, and IL) all have signed a consortium agreement, and ESCO has received its initial funding.
For more details, visit www.stxbp1eu.org.
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