Thank you to the speakers Dr. Thibert, DO, MSPH, Dr. Elizabeth Berry-Kravis, MD, and Dr. Campbell, PhD and the moderator Dr. Tim Franson, MD. Thank you to the Angelman syndrome community for making your voices heard. We deeply appreciate the caregivers who shared their valuable personal insights in the pre-meeting survey, the panels, the live polling, and the facilitated discussions. Your insights will help regulators, drug developers, and others better understand Angelman syndrome, its impact, and the need for treatments.
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On April 7, the Angelman syndrome (AS) community shared what matters most to those living with Angelman syndrome and their caregivers with drug developers, clinicians, and FDA staff during a virtual patient-focused drug development (EL-PFDD) meeting.
Co-hosted by the Foundation for Angelman Syndrome Therapeutics (FAST) and the Angelman Syndrome Foundation (ASF), Hope in Action: an EL-PFDD Meeting on Angelman Syndrome, was a platform for our community to share treatment needs and concerns directly with the FDA as well as other important stakeholders. There were 383 total participants, with over 227 Angelman syndrome caregivers and family members, 67 industry representatives, 41 FDA staff, and 27 researchers and healthcare providers present.
The meeting included opening remarks from Amanda Moore, ASF’s Chief Executive Officer, and Ryan Fischer, FAST’s Chief Operating Officer. Dr. Michelle Campbell from the FDA provided an overview of patient-focused drug development. There were also clinical presentations from Dr. Ron Thibert from the Massachusetts General Hospital for Children and Dr. Elizabeth Berry-Kravis from Rush University Medical Center, who respectively provided background on AS signs and symptoms and available symptomatic treatments.
The meeting featured family panels, live polling, and audience comments, sparking powerful discussions with caregivers. Their perspectives highlighted what it is like to care for an individual with AS, including its complexity, concerns about persistent symptoms, the gaps in current approaches to managing the condition, and what the community desires for meaningful new treatments.
A compelling theme emerged throughout the meeting on the need for treatment advances to help move individuals toward greater levels of independence. Caregivers discussed the profound impacts this condition and its symptoms have on their loved ones’ daily lives, noting a variety of wide-ranging and complex symptoms having a substantial impact on daily activities and significantly limiting independence. They cited challenges with communication, cognition, anxiety, motor skills and behavior as having profound impact on their loved ones, often noting the interconnectedness of these symptom areas. All caregivers echoed that even small improvements in symptoms would have meaningful impact on daily lives and that these incremental advances would represent significant milestones in their loved ones’ journey toward independence.
Caregivers also discussed their loved ones’ experiences with currently available symptomatic treatments, and their hopes for future treatment options, often reinforcing the unmet need for treatments that address the underlying condition as well as the related symptoms. Many cited the use of a broad array of medications and tools to manage their loved ones’ symptoms, including physical therapy, occupational therapy, speech therapy, and medications to manage sleep, gastrointestinal issues, and seizures. However, they also noted that these options are only supportive and continuously emphasized the need for therapies that target small, meaningful changes that would help their loved ones move towards independence.
As next steps, FAST & ASF are preparing a Voice of the Patient report to capture, organize, and convey the key elements of the meeting, as well as the data and analysis of the pre-meeting survey completed by 342 caregivers of individuals with Angelman syndrome. This report will be submitted to the FDA and serves to inform researchers, drug developers, and regulators going forward, thereby providing sustained value as a reference for those who are committed to finding new and better treatments for this disease.
The online comment form is open until May 7. Caregivers and family members are encouraged to submit additional comments, which will be added to the Voice of the Patient report.
A full recording of the meeting can be viewed at the EL-PFDD meeting page