Therapeutic Pipeline

In 2019 at the foundation’s first scientific meeting, the team mapped out four roadmap priorities to advance STXBP1 research. Following this initial roadmap, and with the amazing work of our research and family community, we have made tremendous progress. 

In the three years from 2020 - 2022, we developed a disease concept model, multiple natural history studies, launched an early phase clinical trial for 4-phenylbutyrate, and at the end of 2022, more than 9 potential therapies were in development for STXBP1 disorders.

The therapy pipeline for STXBP1 disorders continues to expand. In Q4 2025 — in our last year of our STXBP1 Fast Forward 3 year plan — there are more than 20 potential therapies in development. Two of these therapies have been awarded orphan designation or orphan drug designation. This great progress highlights that we are on track with STXBP1 Fast Forward.

Now Is The Time For The STXBP1 Community To Activate

If there are already some pharmaceutical companies developing drugs for STXBP1, do we need to do anything else? The answer is YES!

  • Our community knows STXBP1 better than anyone else. We need to inform clinical trials with what matters to patients, and drive the development of endpoints that matter

  • Any single therapy can fail in development or in clinical trials. We must encourage and support as many therapy programs as possible to maximize the likelihood of developing effective therapies and to minimize the downside of any individual therapy failing

  • A single therapy can be deprioritized by a biopharma based on internal prioritization or market conditions. We need to continue to highlight that STXBP1 is an attractive target, strengthen and build industry relationships, demonstrate our community is activated, and truly understand the size of our patient population

  • Potential therapies can be initially developed in academia, but they then need an industry partner for later development and/or clinical trials. Our efforts to understand STXBP1 and develop clinical trial readiness de-risks this transition and makes STXBP1 attractive to industry