By Dr. Dominique Pichard, IRSF CSO –
The patient voice has increasingly become a focus for the Food and Drug Administration (FDA) in the drug development process. Thanks to years of advocacy from patients and caregivers, the FDA has developed mechanisms to hear the patient voice and has encouraged pharmaceutical companies to increasingly include the needs/wants of the population to be treated in their drug development. The FDA shares that “Patient-focused drug development is a systematic approach to help ensure patients’ experiences, perspectives, needs, and priorities are captured and meaningfully incorporated into drug development and evaluation. As experts in what it is like to live with their condition, patients are uniquely positioned to inform the understanding of the therapeutic context for drug development and evaluation.” 
The Patient-Focused Drug Development Meeting is one way the FDA collects information from communities about what is important to those affected by a condition. As you may know, we led an Externally-Led Patient-Focused Drug Development Meeting in March 2022. This full-day meeting included brief talks by Dr. Wilson Bryan (CBER FDA) and Dr. Eric Marsh (IRSF COE at CHOP), followed by pre-recorded panelist statements about life for their daughters or sons with Rett syndrome. James Valentine (moderator) and I then opened up the meeting to the community. We heard from individuals from all over the world representing families affected by Rett syndrome. All ages, both males and females, and all different levels of severity of Rett syndrome were represented. It was an incredible day.
We heard the raw, vulnerable stories of many families affected by Rett syndrome. We heard what good days look like and what bad days look like. We heard what meaningful changes in response to treatments would be and what types of risks members of our community feel would be tolerable. Because of you, our passionate community, we had one of the most well-attended meetings and the volume of families who either called in to speak live or submitted written messages was nearly overwhelming.
The culmination of all this activity is a written report called the Voice of the Patient Report. This document summarizes what was shared during the meeting and serves as a reference document to the FDA and pharmaceutical companies developing treatments for Rett. This will help those stakeholders when designing clinical trials for future therapies for Rett and when considering approvals.
Thank you to our community for showing up, standing together in a unified fashion for a common cause, and making a difference. We are eternally grateful for each of you, and we stand by you while working hard to ensure treatments for Rett syndrome are developed.
Special thanks to our sponsors: Shape Therapeutics, Acadia Pharmaceuticals, Anavex Life Sciences, Novartis Gene Therapies, Taysha Gene Therapies, Vyant Bio, Alycone Therapeutics, DepYmed, Herophilus, & Neuren Pharmaceuticals.