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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.

WATCH a recording of the EL-PFDD HERE.

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! A recording of the EL-PFDD can be viewed now.

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. 

A special thank you to the HUNDREDS of members of the PMS community who made time on November 8 to share their stories!

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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 will focus 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 parents and their perspectives on existing and future treatments. This input can help inform the FDA’s decisions and oversight during drug development and the 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 will increase awareness of the impacts of PMS and educate the FDA and other stakeholders about the challenges of living with PMS and inform regulatory (FDA) decision-making.   

Q: What is the format of the meeting?

A: The agenda will consist of speakers and discussion starters who will speak about living with PMS. There will be two panels consisting of caregivers, who will provide insights about the challenges individuals with PMS face. This groundbreaking meeting will include facilitated discussions to provide additional perspectives from remote participants.

Q: Why is it important to educate the FDA?

A: Our goal is to inform the FDA and other stakeholders in the drug development process about the impact that PMS has on quality of life for individuals and their families. The PFDD meeting gives the PMS community the opportunity to inform the FDA and other stakeholders about what matters most. 

Q: Who should attend the EL-PFDD Meeting?

A: Numbers matter! All PMS community members (individuals with PMS, caregivers, and family members) should join us by webcast to strengthen our meeting impact. We encourage participation from people around the world. PMS knows no boundaries and we need to include the perspective of our global community. Researchers from academia and industry are also encouraged to attend. We want your support and partnership.

Q: How can I contribute to the meeting and mission?

A: There are many ways you can contribute.

  1. Get the word out and post to social media #PMSPFDD

  2. Urge fellow members of the PMS community to attend the meeting

  3. Actively participate in the live polling during the meeting (instructions will be provided on the day of the meeting). 

  4. Sponsor the meeting.  Your contribution will be tax deductible. Contact:

Early Comments


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Voice of the Patient Report

Following the EL-PFDD meeting, CureSHANK will submit 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 information will reflect the information and insights gathered during the meeting.


The PMS Voice of the Patient Report will give 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 will detail 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 intended to help provide the context of the disease burden to the FDA to inform the Agency’s review of new drug applications. CureSHANK anticipates that the report will highlight the unmet need for research and drug development while also illuminating a path forward.

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