EL-PFDD Meeting on Angelman Syndrome

On April 7, 2025, hundreds of caregivers, researchers, FDA staff, and industry leaders came together for the first-ever Externally-Led Patient-Focused Drug Development meeting for Angelman syndrome.

Advocacy in Action: Highlights from the Historic AS EL-PFDD Meeting held on April 7, 2025.

The Recap

Thank you to the speakers Dr. Thibert, DO, MSPH, Dr. Elizabeth Berry-Kravis, MD, and Dr. Campbell, PhD and the moderator Dr. Tim Franson, MD. Thank you to the Angelman syndrome community for making your voices heard. We deeply appreciate the caregivers who shared their valuable personal insights in the pre-meeting survey, the panels, the live polling, and the facilitated discussions. Your insights will help regulators, drug developers, and others better understand Angelman syndrome, its impact, and the need for treatments. Attendance:

Attendance: 383 total participants, with over 227 Angelman syndrome caregivers and family members, 67 industry representatives, 41 FDA staff, and 27 researchers and healthcare providers present.

Watch the Meeting

The video features the Angelman syndrome community sharing personal experiences about living with the condition, including the daily impact on individuals and families. It also highlights community perspectives on current treatment challenges and hopes for future therapies.

Frequently Asked Questions

Please email ryan.fischer@cureangelman.org if you cannot find an answer to your question.

What is PFDD?

The Patient-Focused Drug Development (PFDD) is a systematic approach to help ensure that patients’ experiences, perspectives, needs, and priorities are captured and meaningfully incorporated into drug development and evaluation. The PFDD initiative started in 2012 as part of FDA’s commitments under the Prescription Drug User Fee Act (PDUFA) V. After conducting FDA-led PFDD meetings, FDA recognized there are many more diseases/conditions that can be addressed beyond those that were planned and conducted by FDA.

To help expand the benefits of FDA’s EL-PFDD initiative, in 2015, FDA announced the opportunity for externally-led (PFDD) meetings.

PFDD meetings are planned and hosted by patient organizations, with the input of FDA staff, and use the process established by FDA-led PFDD meetings as a model.

Participation for Caregivers, Family, and Friends

Caregivers and family members can submit comments in response to the discussion questions. We encourage 1 family member from each household participate in the live polling discussions, and we ask that only parents / primary caregivers call in live.

Will this be a one time event or repeat regularly?

We view this as a launching pad for a much broader array of initiatives. The EL-PFDD Meeting itself will not repeat but things will come out of the meeting itself – surveys, additional focus groups, etc, which will continue our interaction with the FDA. We need to keep an ongoing dialogue with the FDA.

Can non-US residents participate?

You can to participate in the survey as long as you can speak English and answer the questions. For the EL-PFDD Meeting itself, you can attend the meeting and participate.

Voice of the Patient Report

We are proud to announce that the Voice of the Patient Report from the Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting on Angelman Syndrome has been officially submitted to the U.S. Food and Drug Administration (FDA). The FDA established the Patient-Focused Drug Development (PFDD) program  in 2012 to gather information directly from patients and caregivers about their lived experiences for regulatory decision-making.