The Science is Speaking. Are You Listening?
When families contribute their data to research, they're making a bet. A bet that the information they share — the seizure logs, the developmental milestones, the therapy notes — will add up to something meaningful. Something that changes what's possible.
That bet is paying off.
As we head into the 2026 STXBP1 Summit+ in Philadelphia this July, I want to share some of what researchers have been learning — because what's coming out of our natural history studies is genuinely exciting, and families deserve to hear it directly.
Let me start with some numbers. The STARR natural history study - a study that tracks how STXBP1 affects our children over time - now includes over 170 participants. That's 170 families who said yes to sharing their child's information with science. And that data is starting to reveal things we couldn't see before. Researchers are now identifying three distinct subgroups within our STXBP1 community — and understanding those differences could change how trials are designed. What those subgroups look like, and what they mean for our kids will be presented at Summit. I'm leaving that for the researchers to share in person.
There's more good news. A separate database called the ESCO registry which tracks individuals with STXBP1 disorders in Europe - has now reached 145 participants. And the new ESCO natural history study is seeing patients in multiple countries in Europe. This means families now have places to go where clinicians understand STXBP1, and where each visit adds to the collective knowledge about our condition.
Researchers are doing something that sounds technical but is actually really important for families: they're checking whether the tools being used to measure progress in the natural history study are the right tools for our population. In other words — are we measuring what actually matters for kids with STXBP1? If the answer is yes, those same tools could be used in a future clinical trial. That's a big deal. It's the kind of groundwork that makes treatment development possible. And it’s critical groundwork for the more than 18 treatments now in development for STXBP1, which I’ll be covering at Summit.
This is the research our community has made possible. And Summit is where you get to hear about it — directly from the scientists doing the work, with the chance to ask your own questions. It's a conversation worth being in the room for, and we want YOU to be part of that conversation!
The 2026 STXBP1 Summit+ takes place July 17–19 at the Hilton at Penn's Landing in Philadelphia. Registration is open until June 30!
I hope to see you there.
Charlene Son Rigby
President of the Board and Mom to Juno