STXBP1: Fast Forward to a Brighter Future
The Foundation’s own Charlene Son Rigby and James Goss, together with our close collaborators Ben Prosser and Ingo Helbig, recently published paper in the journal Therapeutic Advances in Rare Disease where we discussed the STXBP1 Foundation and our Mission to Fast Forward STXBP1 Therapeutic Strategies.
STXBP1 Fast Forward, which launched in 2023, has four pillars:
Propel Precision Therapies for STXBP1-RD. We are energetically pursuing several therapeutic strategies for STXBP1-RD. Pursuing multiple strategies at the same time gives us more ‘shots-on-goal’ for effective therapies and reduces risk.
Prepare for Clinical Trials. With multiple therapies potentially entering clinical trials in the next couple of years, it is imperative that we maximize the likelihood that clinical trials are successful – and that we see improvements in the symptoms that are important to our patients and families. We are leading and orchestrating a number of clinical trial readiness projects, including natural history studies, identifying clinical outcome measures (endpoints), biomarker development, and engaging with regulatory agencies to educate them on STXBP1-RD and what is important to patients.
Build Biopharma Company Interest. We need to build awareness and interest from biotech and pharmaceutical companies, who will ultimately lead the development and commercialization of STXBP1-RD therapies. Our goal is to de-risk STXBP1-RD through our research and clinical trial readiness initiatives, thus making STXBP1-RD an attractive condition for companies to invest in.
Support Patients Today. We are focused on enabling the precision therapies of tomorrow, but we also realize it’s critical to support our patients and families now. We are broadening access to clinical expertise for STXBP1-RD, both through clinical centers for STXBP1 and by developing a standard of care for STXBP1-RD patients.
“We are hopeful that over the next several years, repurposed drugs may help reduce the severity of some STXBP1-RD symptoms for our patients while the promise of precision therapies, which will allow our kids autonomy and greater quality of life, begins to be realized. What we know now is that the knowledge base for STXBP1 is growing faster than it ever has before and we stand at the precipice of major advances.”
