Abstract Details

Title Assessing Experiences with Trofinetide for Rett Syndrome: Interviews with Caregivers of Patients in Open-label Studies

Topic Child Neurology and Developmental Neurology

Presentation(s) S37 - Emerging Therapies in Child Neurology (4:54 PM-5:06 PM)

Poster/Presentation
Number 008

Background Food and Drug Administration (FDA) guidance emphasizes the importance of seeking the patient voice during drug development. Trofinetide has been approved by the US FDA for treating RTT in adult and pediatric patients aged ≥2 years.

Objective

Exit interviews were conducted with caregivers of individuals with Rett syndrome (RTT) participating in open-label trofinetide studies to gain insight into the patient experience of RTT and trofinetide treatment.

Design/Methods Caregiver interviews were conducted with caregivers of LILAC/LILAC 2, open-label extension studies of the phase 3 LAVENDER study in patients aged 5—22 years, and DAFFODIL, an open-label study in patients aged 2—4 years. Caregivers were asked about the effects of RTT, experiences with trofinetide, meaningfulness of improvements, and satisfaction. Transcripts were created from audio recordings, and thematic analysis was performed.

Results

Interviews were conducted with caregivers of 33 patients, including 26 from LILAC/LILAC-2 (mean age, 12.3 years) and 7 from DAFFODIL (mean age, 4.5 years). Caregivers reported the following effects of RTT (n=33): lack of verbal communication (94%); repetitive hand movements interfering with purposeful hand use (73%); motor skills impairment interfering with walking (67%) and performing daily self-care (39%); lack of engagement (36%); mood disturbance (33%); and constipation (30%). Seizures (54%), breathing problems (35%), and feeding tubes (27%) were reported only for patients from the LILAC/LILAC-2 (n=26).

Caregivers reported that patients (n=33) experienced improvement in using hands (46%), engaging with others (39%), eye gaze (33%), focusing (27%), walking (21%), using eye gaze device (27%), and mood (24%). Ten patients (31%) acquired new words. The most meaningful improvements affected communication, engagement, and independent movement. Almost all of the caregivers reported being very satisfied or satisfied with trofinetide.

Conclusions Caregivers of participants in trofinetide open-label studies reported improvements in RTT with meaningful impact on participant communication, engagement, hand use, and walking.

Authors/Disclosures
Kathie M. Bishop, PhD PRESENTER	Dr. Bishop has received personal compensation for serving as an employee of Acadia Pharmaceuticals, Inc. . Dr. Bishop has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for DTx Pharma. Dr. Bishop has stock in Acadia Pharmaceuticals, Inc..
Amy Barrett	No disclosure on file
Oyebimpe Olayinka-Amao (RTI Health Solutions)	No disclosure on file
Susan Martin	No disclosure on file
Dilesh Doshi, PharmD (Acadia)	Dr. Doshi has received personal compensation for serving as an employee of Acadia Pharmaceuticals.
James M. Youakim, MD (Acadia Pharmaceuticals)	Dr. Youakim has received personal compensation for serving as an employee of Acadia Pharmaceuticals. Dr. Youakim has stock in Acadia Pharmaceuticals.