EL-PFDD Meeting & Voice of the Patient REPORT

The Phelan-McDermid syndrome community broke new ground at the CureSHANK planned and funded Externally-Led Patient Focused Drug Development (EL-PFDD) Meeting for Phelan-McDermid Syndrome, held before Food and Drug Administration (FDA).

From this meeting, CureSHANK developed the Phelan-McDermid Syndrome VOICE OF THE PATIENT Report, which was adapted into a journal publication in 2024. Learn more below.

The Phelan-McDermid syndrome community showed up in a major way on November 8, 2022 at the Externally-Led Patient Focused Drug Development (EL-PFDD) Meeting for PMS on November 8, 2022! We made the most of this event, which was a one-time opportunity to shape the FDA's understanding of this devastating genetic disorder.

The Externally-Led Patient Focused Drug Development (EL-PFDD) Meeting for Phelan-McDermid syndrome gave the Food and Drug Administration (FDA) and other key stakeholders, including medical product developers, health care providers, and federal partners, an important opportunity to hear directly from patients, their families, caregivers, and patient advocates about the symptoms that matter most to them, the impact the disease has on patients’ daily lives, and patients’ experiences with currently available treatments.

CureSHANK invested $80,000 to sponsor the event. It was a unique opportunity to share about the impact of Phelan-McDermid syndrome on families and about the types of symptom improvements that would benefit patients and their families. The EL-PFDD meeting content is now collated in the Phelan-McDermid Syndrome VOICE OF THE PATIENT Report, which has been submitted to the FDA along with the record-breaking Additional Patient/Caregiver Comments submitted online.

The Voice of the Patient report was also adapted into a paper entitled “Caregiver perspectives on patient-focused drug development for Phelan-McDermid syndrome,” published in March 2024 in Orphanet Journal of Rare Diseases.

A special thank you to the HUNDREDS of members of the Phelan-McDermid community who shared their stories live on November 8 and and by submitting comments online!

Q&A EL-PFDD

  • PFDD meetings integrate patient insights into the drug development process. Following the successful model that the FDA developed to host similar meetings, the half-day event focused primarily on a range of patient viewpoints on Phelan-McDermid syndrome, covering the symptoms and impacts on daily life that are most important to patients and caregivers as well as their perspectives on existing and future treatments. This input can help inform the FDA’s decisions and oversight during drug development and approval of new therapies.

  • Among the 7,000+ known rare diseases, only a few dozen have ever held an EL-PFDD meeting with the FDA. This meeting increased awareness of the impacts of PMS; educated the FDA and other stakeholders about the challenges of living with PMS; and will inform regulatory (FDA) decision-making.

  • The agenda consisted of speakers and discussion starters who talked about living with PMS. There were two panels consisting of caregivers, who provided insights about the challenges individuals with PMS face. This groundbreaking meeting included facilitated discussions that provided additional perspectives from remote participants.

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