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Externally-Led Patient-Focused
Drug Development (EL-PFDD) Meeting

The EL-PFDD for Phelan-McDermind syndrome(PMS) was held on November 8, 2022.

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

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 sponsored the event and co-planned it with the Phelan-McDermid Syndrome Foundation.  It was a unique opportunity  to share about the impact PMS has had 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 PMS VOICE OF THE PATIENT Report, which has been submitted to the FDA along with the record-breaking Additional Patient/Caregiver Comments submitted online.

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

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Q: What is an externally-led Patient-Focused Drug Development (PFDD) Meeting?

A: 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.

Q: What makes our PFDD meeting so important?

A: 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.   

Q: What was the format of the meeting?

A: 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.

Early Comments


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22q13 i Norden

SHANK3 Gene Mutation/Microdeletion

SHANK3 c.3679dupG


Voice of the Patient Report

Following the EL-PFDD meeting, CureSHANK submitted a Voice of the Patient Report to the FDA documenting the real impact PMS has on people living with the disease and their caregivers to inform the development of treatments. The Report reflects the information and insights gathered during the meeting.


The PMS Voice of the Patient Report gives the FDA and other key stakeholders, including drug developers, health care providers, and insurance companies, data from people with PMS and their caregivers. The report details the everyday impact and burden the disease has on people's daily lives, their experiences with currently available treatments, and their hopes for future PMS therapies. This information is also helps provide the context of the disease burden to the FDA to inform the Agency’s review of new drug applications. The Report, along with the many Additional Patient/Caregiver Comments submitted online, highlights the unmet need for research and drug development while also illuminating a path forward.

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