EL-PFDD Meeting
Helping regulators and drug developers understand the unique needs of the SCN2A community
Externally-led Patient-Focused Drug Development (EL-PFDD) Meeting
On October 23, 2026, the FamilieSCN2A Foundation hosted an Externally-led Patient-Focused Drug Development (EL-PFDD) meeting in Washington, DC.
The goal was to share the critical patient voice for future drug development efforts and key stakeholders, including the US Food and Drug Administration (FDA). This interactive town-hall style meeting is designed to be a conversation about what it's like to live with an SCN2A-related disorder, including current management and desires for future treatments. Families from around the globe attended in person and virtually to share their thoughts with FDA and drug developers who attended to listen and learn.
This meeting is a key part of the Foundation's strategy to advance patient-centered drug development.
Share Your Comments for the
Voice of the Patient Report
Written comments are now OPEN!
We encourage everyone in the SCN2A community to submit a comment, whether you are attending the October 23 meeting in person, joining virtually, or unable to attend.
Your written comments will be included in the final SCN2A Voice of the Patient Report and carry the same weight as comments shared during the meeting.
The comment period is open September 23 – November 22, 2026, and you may submit more than one comment.
Consider sharing:
What does a typical day with SCN2A look like?
What are the hardest parts of living with an SCN2A-related disorder?
What treatments, therapies, medications, or interventions have you tried?
What do you wish researchers, drug developers, and the FDA understood about SCN2A?
What would a meaningful future treatment look like for you or your loved one?
What risks are you willing to take for an experimental treatment?
Your response does not need to be long or formal. Honest, personal experiences are incredibly valuable.
Every story helps us build a more complete picture of life with an SCN2A-related disorder and make sure our community is heard.
Polling Questions
Prior to the meeting, families shared their priorities and concerns in the comprehensive pre-meeting polling, surveys, and interviews, collectively under the SNORKLE Study protocol. Results were shared during the EL-PFDD meeting, and helped inform the new Disease Concept Model (in draft).
During the meeting, families from around the world shared their perspectives in real time. Polling remains open until November 22, 2026 for additional meeting participants who are joining asynchronously.
Meeting Highlights
Short vdeo clips from the meeting, including featured stories and panelists. Stay tuned for additional family stories, meeting recordings, and other shareable content from the meeting.
Health Effects and Daily Impact
Featured story: Mark
Shared by his mother, Angie and sister, Jillian
Health Effects and Daily Impact
Featured story: Isla
Shared by her father, Brian
Current Approaches to Treatment
Featured story: Leo
Shared by his mother, Krista
Clinical Trial Perspectives
Featured story: Tomas from Argentina (as shared by his mother, Alejandra)
Clinical Trial Perspectives
Featured story: Ethan
Shared by his mother, Mery
Self-advocate and video answers to EL-PFDD Prompts
Over 100 videos uploaded onto Clinical Picture Maker (GeneticaLens) in response to EL-PFDD prompts. Contact study team to view. https://clinicalpicturemaker.com
SCN2A EL-PFDD Meeting - Family posters and quotes
Quotes from the pre-meeting survey (SNORKLE Study), mixed in with posters of children throughout the world
Part of the Patient-Centered Drug Development advocacy plan
Patient-Centered Drug Development is an intentional effort to ensure that patient needs and priorities are meaningfully included at all stages of clinical research and development. Regulatory and industry partners play critical roles in the treatment development process. Learn how FamilieSCN2A engages in patient-centered drug development by amplifying the patient voice with regulatory agencies and collaborating with industry partners.