The Voice of The STXBP1 Community: A Landmark FDA Meeting and A Rare Achievement
Our community achieved another milestone by securing an EL-PFDD (Externally Led – Patient Focused Drug Development) meeting with the FDA and achieving record attendance with 287 unique attendees! This rare accomplishment stands as a testament to this community’s unwavering dedication and unity. Of the 10,000+ rare diseases only 79 have been granted an EL-PFDD meeting so far. The significance of this meeting, one of the largest in its category, underlines the urgent need for effective treatments for STXBP1-Related Disorders.
Submit a comment (until November 19, 2023)
Our Mission: Expediting A Cure
The STXBP1 Foundation's mission is clear: to expedite treatments for individuals living with STXBP1-Related Disorders and support our families. The EL-PFDD meeting captures the voice of the patient to potentially help expedite FDA approvals in the future. During the meeting, parents and caregivers shared the realities of living with STXBP1, highlighting the profound impact on children and families.
The Patient Voice: A Resounding Impact
The statistics spoke for themselves: 79% of the participants were STXBP1 families and supporters, 15% represented industry, researchers, and clinicians, and the remaining attendees were from the FDA and other non-profit organizations. The patient voice, echoed through these percentages, is pivotal in shaping future clinical trials and informing the FDA's decisions. It also guides biopharma companies in developing treatments that align with patient needs and preferences.
Community Engagement: A Testament to Unity
The involvement of the FDA, alongside industry and academic partners, highlighted the community's commitment to advocating for better treatments. This highly successful event not only demonstrated the community's motivation but also educated both the FDA and industry about the arduous journey of STXBP1 families and the pressing need for effective treatments.
Highlighting the Urgent Need: Beyond Seizures
The STXBP1 community's focus extends far beyond seizures. While improved seizure treatments are a priority as well as improved communication, the meeting underscored the need to address the broader, complex, and tremendously debilitating symptoms that affect STXBP1 patients. Their mission is to advocate for holistic treatments that consider the entire child, promising a better quality of life.
“Our son’s intellectual disability leads to many secondary challenges in addition to communication. He'll likely need diapers forever. He'll run away if we don't hold on to him while out; no sense of safety whatsoever.” - Kevin, Seattle Washington, USA
Calls to Action: Join the Cause
The STXBP1 Foundation invites everyone to watch the recording of the meeting and make their voices heard by submitting comments through November 20, here. This achievement and the collective voice of the community are a testament to the power of unity and determination in advocating for hope and change. Together, we've set a precedent for the rare disease community, advocating for more effective treatments and improved quality of life.
