ESCO & STXBP1 Foundation
International Caregiver Survey to Inform Future Therapies
The STXBP1 Foundation and the European STXBP1 Consortium (ESCO) are proud to announce the upcoming launch of a joint global initiative: the STXBP1-RD Potential Future Therapies Caregiver Survey. Scheduled to open to families on September 15th 2026, the survey will gather vital insights directly from caregivers to help inform future clinical research and clinical trial planning.
Each caregiver in a household can answer the survey.
The survey will be available in 9 Languages: English, Spanish, Dutch, French, Danish, Norwegian, Hebrew, German, and Italian.
BRAINMODEL
Precision medicine for brain disorders
A team of researchers from six Dutch knowledge institutions (including coordinator Vrije Universiteit Amsterdam) is introducing new research methods to improve treatment for developmental disorders of the brain, including STXBP1-related disorders. The scientific team will work together with societal partners, clinical associations and companies as the BRAINMODEL consortium and will implement new stem cell-based methods to improve diagnostics and therapy decisions and to develop new therapies. The Netherlands Organisation for Health Research and Development (ZonMw) has allocated a grant of 4 million euros for this work.
Patient inclusion: currently ongoing
Contact: brainmodel.gen@radboudumc.nl
Gait analysis of
Individuals with STXBP1-related disorders
At the University Hospital Antwerp, Belgium, prof. Sarah Weckhuysen and dr. Hannah Stamberger, together with prof. Ann Hallemans of the physiotherapy department, have started a study on motor problems including gait abnormalities in STXBP1-RD. They aim to characterize the nature and evolution of gait abnormalities and functional mobility in patients with STXBP1-RD in a semi-quantitative way, using Instrumented 3D gait analysis to produce measurable outcome parameters that can be useful for clinical follow-up and for potential future therapeutic trials. The study requires 2 study visits at the University Hospital in Antwerp, one at the Neurology department for a (video-recorded) semi-standardized clinical neurological examination, and one at the gait lab of the Hospital for a 3D gait analysis. Parents of participating patients are further requested to complete 2 questionnaires.
Patient inclusion possible until end of 2024.
Contact: Dr. Hannah Stamberger (https://weckhuysenlab.sites.vib.be/en)
