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The European STXBP1 Consortium

Bringing together clinicians, researchers, families, and industry to develop new therapies for STXBP1-related disorders.

FDA Grants Orphan Drug Designation to Capsida Biotherapeutics for Potential Treatment of STXBP1 Developmental and Epileptic Encephalopathy

The European STXBP1 Consortium (ESCO) is excited to share groundbreaking news in the quest for new treatments for STXBP1 disorders! The FDA has granted Orphan Drug Designation to Capsida Biotherapeutics’ potential therapy for STXBP1 Developmental and Epileptic Encephalopathy (STXBP1-DEE). This designation represents a critical step toward addressing the needs of those affected by this rare disorder, bringing hope for impactful treatment options on the horizon. See below the announcement from Capsida Biotherapeutics on PR Newswire. Wholly owned first-in-class program anticipated to enter clinical trials in first half of 2025 THOUSAND OAKS, Calif., Oct. 30, 2024 /PRNewswire/ — Capsida Biotherapeutics (“Capsida”) today announced the […]

Save the Date! The Second European STXBP1 Summit and Roundtable will take place in in Heidelberg Germany, 8-11 October 2025

The 2025 STXBP1 Summit, hosted by the European STXBP1 Consortium (ESCO), will take place in Heidelberg, Germany. This significant event, scheduled from October 8-11, 2025, includes a Research Roundtable from October 8-10, followed by a Family Summit on October 11. The summit aims to bring together researchers, clinicians, and families affected by STXBP1 disorders to discuss advancements, share knowledge, and foster collaboration. Set in the historic and picturesque city of Heidelberg, the event promises to be a pivotal moment for the STXBP1 community, driving forward the understanding and treatment of this rare neurological condition. Save the date for this essential […]

European STXBP1 Consortium Secures Funding to Monitor Disease Progression in 50 STXBP1 Patients

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 […]

Successful Million Dollar Bike ride for research of STXBP1-related disorders!

On Saturday June 8, 2024, Dutch and Belgian teams including members from the European STXBP1 Consortium successfully biked the European Million Dollar Bike Ride, a fundraising event to raise money for research into STXBP1-related disorders. Together they raised more than 12.000 euros. The teams consisted of researchers and clinicians from the Functional Genomics department of Vrije Universiteit Amsterdam, Human Genetics department of Amsterdam UMC, Amsterdam Neuroscience, Radboud UMC, University of Antwerp, and Antwerp University Hospital, as well as family members of STXBP1 patients. Each team biked more than eighty kilometers to the mid-point in Dordrecht, halfway between the labs of […]

Million Dollar Bike Ride 2024: Belgium and the Netherlands race for rare disease research

Research teams from ESCO member institutes in the Netherlands and Belgium are preparing to participate in the European satellite event of the 2024 Million Dollar Bike Ride. The ride, orchestrated by the Orphan Disease Center in Philadelphia, aims to generate funds earmarked for critical rare disease research grants, with our teams’ funds specifically dedicated to STXBP1 studies. Scheduled for Saturday, June 8th, the race will see both teams embarking on an 80-kilometre journey to a designated midpoint between Antwerp and Amsterdam. Building upon the success of the 2022 event, where over 10,000 euros were raised, we aspire to make this […]

ESCO members convene in Antwerp, Belgium for Inaugural Kick-Off Event

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 […]

About The European STXBP1 Consortium

ESCO is an investigator-driven consortium of currently 7 European countries and Israel focused on promoting trial readiness for the treatment of STXBP1-related disorders. ESCO brings together all the relevant stakeholders in the space, including industrial partners and family associations, to foster collaborations that accelerate the creation of life-changing solutions for this patient population in need.

ESCO's Mission

The mission of ESCO is 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.

Disease Prediction Tool

Information about STXBP1

STXBP1-related disorders are characterized by developmental delay and intellectual disability, most of the time associated with epilepsy, movement disorders, autism and other behavioral problems. Find more information on the disorder and the research towards STXBP1 and STXBP1-related disorders through the following links.

Information for patients and caregivers

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Information on STXBP1 research in ESCO countries

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Information for healthcare professionals

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Patients affected by STXBP1 in ESCO countries

Belgium

Israel

Denmark

Italy

France

Netherlands

Germany

Spain

Interested in learning more?

If you are interested in joining ESCO as a participant or clinical representative, please contact the representatives of your home country. If your home county is not part of the consortium at this moment, please contact the representatives of the Netherlands.

Member countries