Authors :
Presenting Author: Kathie Bishop, PhD – Acadia Pharmaceuticals Inc.
Amy Barrett, MSPH, MA – RTI Health Solutions; Oyebimpe Olayinka-Amao, PharmD, MPH – RTI Health Solutions; Susan Martin, MSPH – RTI Health Solutions; Dilesh Doshi, PhD – Acadia Pharmaceuticals Inc.; James Youakim, MD – Acadia Pharmaceuticals
Rationale:
Trofinetide is approved by the US Food and Drug Administration (FDA) for treating Rett syndrome (RTT) in adult and pediatric patients aged ≥2 years. Individuals with RTT need lifelong care and assistance with all aspects of daily living. Recent FDA guidance has emphasized the importance of understanding the patient’s experience and seeking the patient voice during the drug development process. A qualitative interview study was conducted with caregivers of individuals with RTT who participated in clinical studies of trofinetide to gain insight into the experiences of participants in long-term trofinetide studies.
Methods:
Two independent researchers conducted interviews with primary caregivers of clinical study participants of LILAC‑2, a 32-month trofinetide open-label extension study of the 12-week phase 3 LAVENDER randomized trial and the 40-week LILAC extension study. Caregivers were asked about the effects of RTT on their child, changes experienced during the study, effects and meaningfulness of any improvements, and satisfaction with trofinetide. Transcripts were created from audio recordings of the interviews and analyzed with thematic coding.
Results:
Interviews were conducted with caregivers of 26 participants of LILAC and LILAC-2 (mean age, 12.3 years; range, 6-22). Caregivers most frequently reported the following effects of RTT: lack of verbal communication (92%), little or no purposeful hand use (81%), significantly impaired gross and fine motor skills interfering with walking (73%) and performing daily self-care activities (46%), seizure (54%), lack of engagement/interaction (39%), breathing problems (35%), and mood disturbance (eg, anxious, irritable, unhappy; 30%). Patient experiences reported by caregivers during trofinetide clinical studies included improvement in hand use (42%), engagement with others (42%), use of eye gaze device (31%), focus (27%), walking (19%), and mood (23%). Some participants acquired new words (19%) or new sounds (23%). Caregivers said that improvements were meaningful, particularly those affecting patients’ communication, engagement, and ability to move independently and assist in their own care. When asked, 14 of the 26 caregivers reported a change in their daily life as a result of their child’s treatment-related improvements. They reported that their family was able to attend social gatherings together and was happier. Additionally, their lives were improved by being able to interact with their child and have their child respond to them and others. Among the 25 caregivers who reported their satisfaction with trofinetide, 24 were very satisfied or satisfied.Conclusions:
Caregivers of participants with RTT in LILAC-2 reported sustained and meaningful improvements with trofinetide treatment. The improvements had a positive impact on their child’s physical and social functioning, including improved ability to communicate and interact with others and participate in family activities.Funding: Acadia Pharmaceuticals Inc.