Celebrating 2023 & Looking Forward
2023 has been a year of acceleration. A return to normalcy in so many ways, with a distinct post-pandemic flavor. During COVID, people didn't see friends, travel, or go to in person meetings. Now, it's all happening—and it feels like the movie “Everything Everywhere All at Once.” So much going on at the same time, and no time to catch one's breath.
STXBP1 also experienced marked acceleration in 2023. We and our collaborators have collectively pushed the STXBP1 gas pedal. The progress we’ve made is both amazing and humbling.
Several notable milestones and firsts:
Launched new STXBP1 Fast Forward 3-Year Strategic Plan.
Published the first peer-reviewed STXBP1 Disease Concept Model, which documents our patients' most significant symptoms and the impact on them and their families.
First STXBP1 Research Roundtable in Europe, held in Milan in May, with over 100 researchers and clinicians in attendance - sharing their latest work and forging important collaborations.
The first longitudinal natural history study for STXBP1, called STARR, launched in July in the U.S. This study is a critical step in preparing our community for upcoming clinical trials for new drugs and therapeutics. The first year of this study was made possible by the Flourish campaign, and the ENDD Center at Penn Medicine and Children's Hospital of Philadelphia.
Held our first public meeting with the FDA in October, to educate them on STXBP1, our patients’ experiences, and our urgent need for truly impactful therapies. More than 288 people attended!
Exceeded 20 countries in the STXBP1 Global Connect, our coalition of STXBP1 foundations and country liaisons.
Initiated an STXBP1 patient census, which has counted over 951 patients in 47 countries around the world.
All of these achievements support our efforts to drive forward therapy development and advance our readiness for clinical trials. We are so appreciative of our strong partners including:
The new ENDD Center at Penn Medicine and Children's Hospital of Philadelphia, which also launched this year and is led by STXBP1 dad and researcher, Ben Prosser.
The new European STXBP1 Consortium (ESCO), a research consortium of 9 European countries and growing, will launch a natural history study for STXBP1 in 2024. The STARR and ESCO studies are complementary, and we have worked hard to align the studies.
All of this tremendous progress! Yet, as a parent, things are not moving fast enough. As you may recall, I promised my daughter, Juno, that we would do something path-bending for her by the time she turned 10. She turned 10 last June, and we are not there.
We have multiple therapies in development, as noted by Ana Mingorance in her American Epilepsy Society update (see #5 Impressive Patient Groups). But, much more needs to be done to move those therapies from the lab into clinical trials and approved therapies, from which Juno and our entire STXBP1 patient community will benefit.
Let’s get there together. Our kids are counting on us. I ask you to donate to the STXBP1 Foundation to help us advance this urgently needed work. May the reflection on how far we have come this past year fuel us as we continue to Fast Forward STXBP1.
Your gifts are a direct investment in our ability to:
Invest in research and advocate to propel precision therapies
Expand the natural history studies to grow what we know about our loved ones with STXBP1 disorders
Develop specific biomarkers that can help us identify characteristics that can be measured and evaluated
Support our STXBP1 community by broadening access to clinical expertise, working to develop standards of care for patients, and being a resource for education, shared experience, and friendship.
STXBP1 FOUNDATION Impact since 2017
4 Research Roundtables
$1.5M in Grants & Research Funding
5 Family Summits
$20K Patient Assistance Grants
951 Patients identified
11 Therapies in Pre-Clinical Development
-Charlene Son Rigby