Rett Syndrome Symptoms and Quality of Life Improvements Through Trofinetide: Ponni Subbiah, MD, MPH

WATCH TIME: 4 minutes

"If you look at some of the things I mentioned related to what caregivers observed, some key areas noted with benefiting from trofinetide are engagement, interaction with others, hand use, eye gaze, all contributing to communication and interaction."

Patients with Rett syndrome continue to struggle with limited nonverbal skills, loss of fine and gross motor function, behavioral issues, seizures, hand stereotypies, and gastrointestinal problems. Earlier this year, trofinetide (Daybue; Acadia Pharmaceutical) became the first FDA-approved therapy for the condition, with data from the phase 3 LAVENDAR trial (NCT04181723), and open-label extension studies LILAC-1 (NCT04279314) and LILAC-2 (NCT04776746) supporting its approval.

To explore the experience of study participants with Rett treated with trofinetide, Acadia conducted a caregiver analysis. Presented at the 2023 American Epilepsy Society (AES) annual meeting, held December 1-5, in Orlando, Florida, the analysis featured 27 caregivers who completed an hour-long interview after the end of LILAC-2 treatment or study exit. Each interview followed the methods and procedures outlined in the institutional review board-approved qualitative interview procedure guide and focused on observations of treatment benefit and meaningfulness of these benefits.

All told, the most frequently improvements in Rett syndrome in the trofinetide studies were engagement with others (42.3%), hand use (38.5%), and eye gaze (30.8%). Ponni Subbiah, MD, MPH, chief medical officer of Acadia, sat down with NeurologyLive® to discuss the analysis, including some of the most noted improvements seen in treated patients. Subbiah, who also serves as the senior vice president and global head of medical affairs, discussed some of the major symptoms patients with Rett experience and the role of trofinetide going forward.

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REFERENCE
1. Bishop KM, Barrett AM, Olayinka-Amao O, Martin S, Doshi D, Youakim J. Assessing experiences with trofinetide for Rett syndrome: interviews with caregivers of patients in LAVENDER, LILAC, and LILAC-2 studies. Presented at 2023 AES annual meeting; December 1-5; Orlando, FL.