STXBP1 Community Activation: Reflections on 2024
A holiday message and end of year request from our Board President, Charlene Son Rigby
Our community has always been our north star, guiding our work and ensuring we are focused on truly improving the lives of our patients and families. It's been incredibly heartening to see the community activating in remarkable and impactful ways in 2024. At the same time, our talented researcher network is working with diligence and urgency. As I noted last year, we were collectively pushing the STXBP1 gas pedal. In 2024, we didn't take our foot off that accelerator!
I want to highlight several milestones:
Our STARR Natural History Study for STXBP1 entered its second year, with more than 137 patients seen so far, exceeding our target of 100 patients. The focus of this study is to prepare for future clinical trials. We also now have five study sites, with Stanford Medicine Children's Health, opening in October and joining Children's Hospital of Philadelphia, Children's Hospital Colorado, Texas Children's Hospital Baylor, and Weill Cornell Medicine
Move to Cure, our 8th annual challenge fundraiser, raised over $104K. 30 teams worldwide activated our community to “Shine a Light on STXBP1”
We have awarded a cumulative total of $3 million in research funding since our first award in 2019. This research funding includes both grants and sponsored research agreements, and is critical funding to advance both translational and clinical research
The STXBP1 Foundation’s work including our Fast Forward Strategic Plan was published in a peer-reviewed article in the journal Therapeutic Advances in Rare Disease: “STXBP1: fast-forward to a brighter future - a patient organization perspective”
Our engagement with the FDA continued, with the publication of our Voice of the Patient report, documenting the Patient Focused Drug Development Meeting we held in 2023. We also held our first scientific meeting with the FDA in December to discuss the STARR study protocol
Our community amplified our messages of hope and determination in high profile forums and mainstream media including the White House, People Magazine, NPR, MLB Detroit Tigers, CBS News, and Rare in Times Square
STXBP1 Global Connect, our coalition of STXBP1 foundations and country liaisons, grew by 30 percent to 26 countries
We counted more than 1,157 patients in 52 countries in our STXBP1 census
It truly takes a global village to get to effective therapies and, one day, a cure. Our foundation so appreciates the committed collaboration of our partners including the STXBP1 Global Connect, the ENDD Center at Penn Medicine and Children's Hospital of Philadelphia, the STARR clinical sites, the European STXBP1 Consortium (ESCO), Clara Inspired, FLOURISH, and Lulu's Crew from the Million Dollar Bike Ride.
We continue to Fast Forward STXBP1: we are moving forward strategically and with urgency. There are over 16 therapies in development for STXBP1. But we have so much more to do to advance these therapies to clinical trials and beyond.
I ask you to donate to the STXBP1 Foundation to help us advance this critical work.
Thank you to those who have already supported us this year! 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 tell us whether a new therapy is working
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.
Join me in giving the gift of research in honor of someone you love this season. I am making my gift in honor of my daughter, Juno. She inspires me every single day.
With heartfelt gratitude,
Charlene Son Rigby
STXBP1 Foundation
President + Mom
STXBP1 FOUNDATION Impact since 2017
5 Research Roundtables
$3M in Grants & Research Funding
6 Family Summits
$63K Patient Assistance Grants
1157 Patients identified
>16 Therapies in Pre-Clinical Development