The European STXBP1 Consortium (ESCO) is thrilled to announce that it has secured the necessary funding to commence its large scale, pan-European natural history study. This marks a significant milestone in the consortium’s mission to advance our understanding of STXBP1-related disorders and improve outcomes for patients and families affected by these conditions.
STXBP1 related disorders (STXBP1-RD), caused by mutations in the STXBP1 gene, are rare, severe neurodevelopmental conditions that often lead to epilepsy, intellectual disabilities, and motor dysfunction. Despite the profound impact on patients’ lives and that of their caregivers, research into these disorders has been limited due to a lack of comprehensive data and resources. The newly acquired funding represents a pivotal step toward addressing these challenges.
ESCO is a collaborative network of leading clinicians and researchers from across Europe and is dedicated to pooling expertise and resources to accelerate progress in our understanding of these conditions.
Key objectives of the study include:
- Collect already available information about STXBP1 patients: many clinical assessments of STXBP1 patients have already been performed in many hospitals across Europe. ESCO aims to gather this information in a standardized manner and use it to define the disease more precisely.
- Track Development of Symptoms Over Time (“Natural History Study”): Study how STXBP1-RD develop and change in patients over the years. This will create a reference for future treatments that aim to improve the symptoms of the condition.
- Improve diagnosis: (i) synchronise the way symptoms are defined in clinics across EU using standardized scales and promote objective, quantitative assessments; (ii) integrate many different aspects of the conditions, from seizures to sleep and from communication to digestion
- Set Benchmarks for Clinical Trials (“Biomarkers”): Identify measurable indicators of the disease to be able to monitor effects of treatments in future clinical trials for STXBP1-RD, ensuring that these trials are effective and meaningful.
- Find Disease Markers (“Endpoints”): Identify measurable outcomes of future treatments to be able to determine effectiveness of future treatments.
- Evaluate Impact on Life and Care Needs: Examine how STXBP1-RD affects quality of life and identify unmet needs for patients and their caregivers. This will help establish the best practices for caring for individuals with STXBP1-RD.
These objectives are necessary steps to prepare for future clinical trials. ESCO is monitoring developments around the world that may lead to candidate treatments. With the current activities, ESCO establishes a European framework that will greatly facilitate the effective and safe assessment of such candidate treatments in the future and fair access for everyone across EU.
With the secured funding, the consortium is poised to make significant strides in the fight against STXBP1 disorders. The consortium’s work is not just a scientific endeavor; it is a beacon of hope for families seeking answers and better treatment options. The collaborative spirit and shared commitment of ESCO members underscores the power of teamwork in tackling rare diseases. Stay tuned for updates on this transformative study as it unfolds, offering new insights and hope for those affected by these challenging conditions.
Can I just double check that UK families cannot take part?
Hi Claire,
Thanks for reaching out. While at the moment, the UK is not a part of ESCO, we are actively discussing with clinicians there about future collaboration and possibility to join the consortium in the future.