September 2026 — 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.
Background on the Survey
STXBP1-related disorders (STXBP1-RD) are rare neurodevelopmental conditions that deeply affect brain development, presenting immense challenges for children and their families. While current medical care primarily focuses on managing symptoms, research into potential disease-modifying options, including gene therapies, RNA-based treatments, and other therapeutic strategies, is advancing.
As new therapeutic approaches move toward clinical development, researchers need to understand the perspectives and priorities of families living with STXBP1-related disorders. The survey is designed to capture caregivers’ awareness, hopes, and perceived risks associated with emerging treatments and participation in clinical research. No prior medical or clinical trial knowledge is required to participate. By capturing caregivers’ firsthand perspectives, the STXBP1 Foundation and ESCO hope to inform future trial design and research approaches that reflect the needs, safety considerations, and values of the community. Beyond clinical trial design, the survey results will also highlight where caregivers need the most information, enabling the development of targeted educational resources and materials to better support families.
Coming This September for STXBP1 Awareness Month
The survey is slated for official release on September 15th, during global STXBP1 Awareness Month (celebrated in the 9th month because the STXBP1 gene is located on the 9th chromosome) and will remain open for one month. Caregivers across the globe are encouraged to stay tuned to official ESCO & STXBP1 Foundation channels for the link to participate as the awareness month kicks off.
A Heartfelt Thank You to Our Communities
This milestone initiative is a testament to the power of a united global patient network. The STXBP1 Foundation and ESCO would like to extend our deepest gratitude to the global STXBP1 community.
Critical research frameworks and collaborative studies like this one do not happen in a vacuum. They are made entirely possible by the fierce dedication, passionate advocacy, and relentless financial commitment of families, friends, and donors participating in fundraisers. Every dollar raised directly fuels the science and infrastructure required to move closer to a cure. In particular, we give heartfelt thanks for the support from the Oudervereiniging STXBP1 (Netherlands parent association), STXBP1 Italia, and those who continue to contribute to the STXBP1 Foundation and ESCO.
“Parents and family members play a vital role in caring for our children with STXBP1. They know things that a doctor at the hospital never sees: what a day is really like, and when things are going better or worse. Every day, they provide the care that is meant to make treatment easier. And they know what really matters to a family. They can tell us whether participating in this study is feasible in their daily lives. That is why we are calling on parents: please participate in this study. By doing so, you’ll help us achieve a breakthrough in the treatment of your children.” –STXBP1 NL Parents’ Association
Check out the success of the first Europe-wide STXBP1 Awareness Month Fundraiser from 2025.
For more updates on the survey’s release and how to participate this September, please keep an eye on the official channels of the STXBP1 Foundation and ESCO.
About the Organizers
The STXBP1 Foundation is a parent-led, non-profit organization dedicated to improving the lives of individuals affected by STXBP1-related disorders by supporting families, advancing research, preparing the community for clinical trials, and accelerating the development of meaningful treatments.
ESCO (The European STXBP1 Consortium) is a robust network of clinicians, scientists, and researchers bridging multiple European nations, working collectively to optimize diagnosis, clinical care, and therapeutic pipelines for individuals with STXBP1 disorders.