Homepage - ESCO -

Welcome to ESCO

The European STXBP1 Consortium

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

Our First European STXBP1 Natural History Study Participant

We are pleased to share the inclusion of the very first participant in the ESCO Natural History Study! The four-year-old Rosie from Belgium bravely took part in a full day of assessments. In the morning, she met with the neuropsychologist, physiotherapist, and speech therapist at the developmental center. Followed by an afternoon visit with the pediatric neurologist for a detailed medical history, clinical examination, EEG, ECG and blood sampling. Rosie handled every step with remarkable courage and cooperation throughout the day. Her father was proud to contribute to this important research. It was a long but rewarding day – may […]

Together Across Europe for STXBP1 Awareness Month 2025

Eight countries across Europe came together this September for STXBP1 Awareness Month, uniting to raise awareness of STXBP1-related disorders and to stand together in the search for a cure. Families and friends from Italy, Spain, France, Israel, Denmark, the Netherlands, Belgium, and Germany joined forces—covering countless kilometers and spreading hope across the continent. This video was a collaborative effort with parents and families across ESCO countries and premiered during the European STXBP1 Summit in Heidelberg. We are deeply inspired and motivated to see what we can achieve together in 2026! �✨ Thanks to the incredible energy and dedication of everyone […]

Recap: 2nd European STXBP1 Summit and Family Day in Heidelberg

From October 8–11, 2025, Heidelberg became the center of the STXBP1 community, welcoming scientists, clinicians, families, and advocates from across Europe and beyond for the 2nd European STXBP1 Summit and Family Day. The four-day gathering brought together over 40 expert speakers, dozens of families, and countless collaborators united by one goal: to advance research and improve the lives of individuals living with STXBP1-related disorders. Research Roundtable: Bridging Mechanisms, Models, and Medicine The Research Summit (October 8–10) opened with a welcome by Steffen Syrbe (Heidelberg) and presentations from the European STXBP1 Association. Over the following days, participants explored the shared and […]

Dutch Families Raise €14,159 for STXBP1 Research with Nationwide Relay

Over the past several months, the STXBP1 community in the Netherlands has taken on an incredible challenge — kick starting the European-wide Estafette (relay) traveling from one end of the country to the other. Families cycled, walked, jogged, and even rode motorcycles to pass a ball donning the colors of the Dutch flag across the Netherlands, raising awareness for STXBP1-related disorders and collecting donations to support the European STXBP1 Consortium (ESCO).

Prof. Dr. Matthijs Verhage Honored with the 2025 Innovative Research Award

We are thrilled to announce that Prof. Dr. Matthijs Verhage, head of the department of Functional Genomics and a founder of the European STXBP1 Consortium (ESCO), has been selected as the recipient of the 2025 Innovative Research Award by the STXBP1 Foundation. This prestigious award is bestowed upon individuals whose groundbreaking scientific contributions have significantly advanced our understanding of STXBP1-related disorders. Prof. Verhage’s long-standing dedication to translational research has been instrumental in uncovering critical disease mechanisms in SNAREopathies, particularly STXBP1. His tireless efforts have not only expanded our scientific knowledge but also paved the way for potential new therapies, offering hope to countless families […]

STXBP1 Associations Across Europe and Israel Raise Awareness for Rare Disease Month

Rare Disease Month, culminating in Rare Disease Day on February 28 this year, is an important time for the rare disease community to raise awareness and advocate for improved research and care. Rare Disease Day, first launched in 2008, is now observed worldwide to highlight the challenges faced by individuals living with rare conditions and to call for greater support from governments, healthcare providers, and the public. Throughout February, STXBP1 associations across Europe and Israel engaged in impactful activities to spread awareness and raise funds for their initiatives. Highlights from Across Europe […]

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

Find out more

Munc18_HD-ezgif.com-video-to-gif-converter

Information on STXBP1 research in ESCO countries

Find out more

Information for healthcare professionals

Find out more

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 or email esco@stxbp1eu.org.

Member countries