Representatives from ESCO’s eight member countries convened in Antwerp, Belgium, on February 8th, marking the initiation of ESCO’s strategic endeavours to advance trial readiness for treatment of STXBP1-related disorders. ESCO (the European STXBP1 Consortium) facilitates collaboration among clinicians, researchers, patient families, and industry leaders from partner countries.
The aim of this event was for the consortium’s steering committee and executive board to make final preparations for the consortium to begin its mission to promote clinical and pre-clinical research on STXBP1-related disorders, to prepare for successful and efficient evaluation of new therapies, once available, and to promote equal and evidence-based access to new therapies.
STXBP1 related disorders (STXBP1-RD) are rare genetic conditions caused by de novo, heterozygous disease-causing genetic variants inthe STXBP1 gene. STXBP1-RD are rare neurodevelopmental disorders characterized by developmental delay and intellectual disability (ID), most of the time associated with epilepsy. Comorbidities such as movement disorders, autism and other behavioral disorders are frequent. Symptoms can vary between different individuals. There is no cure for STXBP1-RD to date, but there are treatments that target symptoms, such as anti-seizure medications, habilitation therapies or behavioral therapies. The disease course is variable among affected individuals, and the long-term outcome is still under investigation.
Buongiorno. Desidero sapere se sta per avviarsi uno studio di storia naturale per la mutazione stxbp1 anche in Italia e , se sì, come è possibile parteciparvi. Grazie