VOICE OF THE PATIENT REPORT ON ANGELMAN SYNDROME SUBMITTEDTO THE U.S. FOOD AND DRUG ADMINISTRATION (FDA)

We are proud to announce that the Voice of the Patient Report from the Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting on Angelman Syndrome has been officially submitted to the U.S. Food and Drug Administration (FDA). The FDA established the Patient-Focused Drug Development (PFDD) program  in 2012 to gather information directly from patients and caregivers about their lived experiences for regulatory decision-making.  

Hosted virtually on April 7, 2025, and organized by the Foundation for Angelman Syndrome Therapeutics (FAST) and the Angelman Syndrome Foundation (ASF), this meeting brought together hundreds of families, caregivers, researchers, clinicians, FDA representatives, and industry leaders, to spotlight the urgent, unmet needs of the Angelman syndrome (AS) community. 

This comprehensive report captures the lived experiences of individuals with AS through their caregivers and highlights: 

• The lifelong impact of Angelman syndrome symptoms, including communication challenges, severe cognitive limitations, movement and balance issues, sleep disturbances, seizures, and behavioral concerns.
   
• The lived experience of families who provide round-the-clock support throughout their loved one’s life due to their lack of functional independence.
   
• The urgent need for disease-modifying treatments that could improve communication, daily living skills, cognition, and overall quality of life and that any improvements could have a profound impact.
   
• The limitations of current symptomatic therapies, which often provide minimal relief and require complex, lifelong management. 

Before the meeting, 342 caregivers participated in a detailed survey to shape the agenda and discussion. Their responses, combined with powerful personal testimonies during the meeting, and remarks by key healthcare providers, have been compiled to inform FDA's assessments of community benefit expectations and risk tolerance and guide the design of future clinical trials. The online meeting was attended by 383 participants, including several from the FDA. 

This milestone reflects the strength of the Angelman syndrome community and our shared commitment to accelerating the development of meaningful treatments. This report helps equip decision makers shaping the lives of people with Angelman syndrome with the knowledge they need to make informed, impactful decisions.