Update on FDA-NIH Rare Disease Day 2025
Dear STXBP1 Community,
Late last week, the National Institutes of Health (NIH) announced that the FDA-NIH Rare Disease Day 2025 will be postponed. Although they provided limited details about the reasons, they expressed hope to reschedule the event in the coming months. This is disappointing, as many within the rare disease community eagerly anticipate this opportunity for advocacy, networking, and learning about new treatment options.
While it's challenging to compensate for this event, we are excited to share that Cristina Brennan, a board member of the STXBP 1 Foundation, will represent the foundation at Rare Disease Week on Capitol Hill this week. Additionally, we will host an STXBP1 Virtual Family Meet Up on Rare Disease Day, February 28, at 7:30 p.m. ET. Both gatherings will offer the STXBP 1 community a platform to learn and discuss initiatives aimed at enhancing the lives of those affected by STXBP1.
We would also like to acknowledge the outstanding work the FDA and NIH have supported through grants for initiatives such as the ORCA Measure and EpiMVP program a collaborative ‘center without walls’ aimed at understanding and predicting the pathogenic potential of epilepsy gene variants, including STXBP1. Their contributions to clinical trial development, particularly in capturing our community’s perspective during the Patient-Focused Drug Development (PFDD) meeting for STXBP1-Related Disorders and the Critical Pathway Innovation Meeting (CPIM), have played a vital role in advancing research and treatment options for our loved ones.
In light of the recent developments, we encourage everyone to actively engage in our upcoming events. Additionally, we urge you to advocate for continued support of the FDA and NIH. Reach out to your representatives and express the importance of funding for research and treatments related to STXBP1 disorders. Every voice matters, and collectively, we can drive the change we wish to see.
Let's work together to ensure that our community's needs and perspectives are heard and prioritized. Also, please consider donating to our 2025 Rare Disease Day Campaign, where every dollar you give will be matched up to $5,000 by a generous community member.
Thank you for your dedication and support.
