Three Take Aways from STXBP1 Summit+ 2023

The Family Summit in Colorado was a truly memorable event. We had more than 200 attendees in person -  families, key researchers and clinicians, and industry partners - and many more online. It was a weekend where we got to fill our heads - and our hearts.

Here are three takeaways from this year's Summit:

Ecosystem & collaboration

Ecosystems and collaboration are key to fast and strong progress. In the early days of the foundation, we were given the advice to not just focus on one researcher, but to work with multiple researchers. We have heeded this advice, and gone further - not only developing relationships and investing time with multiple research groups, but also bringing those groups together to develop a vibrant, collaborative ecosystem. We will achieve more together.

To this end, it was amazing to see our dedicated researchers seated in a circle planning and sharing lessons already learned from the first couple weeks of the STARR study, the STXBP1 natural history study announced at Summit.

Another example of collaboration has been the partnership we've supported between the STARR Study and European STXBP1 Consortium (ESCO). With these two studies, we are making sure the protocols align so the data can be used together to better support future clinical trials.

And a third recent example is the census project we started this year with family associations and country representatives from over 20 countries as part of STXBP1 Global Connect. Our census identified 928 STXBP1 patients in 46 countries at the end of June!

Clinical Trial Readiness

The research progress in STXBP1-related disorders is promising. We are now at a pivotal point, an inflection point where we are expanding from basic and translational research to prepare for future clinical trials. Preparing for clinical trials, or developing clinical trial readiness, is part of our foundation's 3 year strategic plan, STXBP1 Fast Forward.

Families can contribute to clinical trial readiness by participating in observational studies. Studies like the STXBP1 Disease Concept model (Sullivan et al, 2023), and the STXBP1 ENGAGE study presented by Encoded at Summit can also help us understand what is important and impactful to patients and families. Other studies can help us to understand our kids' symptoms over time. The STARR Study, announced at Summit and launching at 4 clinical centers in the US, will study our patients longitudinally and help us determine what can be used to measure meaningful improvement for our patients in future clinical trials. Through our Are You All In campaign, we are asking you to be All In for a short list of research studies. Participating in these studies  takes your valuable time but is so vital to advancing our community's preparation for clinical trials.

Community, community, community

As Heather Jones said in her family story, this is a family we never knew we would need, but we're so glad to have. All of this, everything we are doing is for our kids and for this community. Thank you for showing up in any and every way you are showing up. Together, we are #STXStrong.

By the way, if you missed Heather's story and her Q&A with her daughter Clara, check it out here.