A group of women at a business meeting

leading the way

Although there are over 10,000 known diseases, less than 100 have been the subject of a PFDD meeting – and Phelan-McDermid Syndrome (PMS) is among them. 


It is thanks to the generous support of CureSHANK donors and the tireless efforts of our board and advisors, that we are able to be a part of this groundbreaking new process that can bring us closer to successful treatments.

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

In [May 2022] CureSHANK will host a Patient-Focused Drug Development Meeting (EL -PFDD) for the U.S. Food and Drug Administration (FDA). PFDD meetings are part of an FDA initiative to systematically gather patients’ perspectives about their condition and available therapies. 


In the CureSHANK EL-PFDD meeting, researchers and drug development stakeholders will meet with families and caregivers of those affected by Phelan McDermid Syndrome. Their goal is to learn which avenues of research would be most impactful to the daily lives of the PMS community. 


The meeting presents a systematic and comprehensive way to share patient and caregiver’s perspectives on

  • The severity of the condition

  • The impact of PMS on daily life

  • Assessments of availability or lack of treatments


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.