An Evaluation of Real-World Effectiveness and Safety of Trofinetide in Patients with Rett Syndrome: A Retrospective Chart Review
Abstract number :
1.541
Submission category :
11. Behavior/Neuropsychology/Language / 11B. Pediatrics
Year :
2025
Submission ID :
1295
Source :
www.aesnet.org
Presentation date :
12/6/2025 12:00:00 AM
Published date :
Authors :
Presenting Author: Constance Smith-Hicks, MD, PhD – Center for Synaptic Disorders, Rett and Related Disorders Clinic, Kennedy Krieger Institute
Steven Skinner, MD – Greenwood Genetic Center
Amitha Ananth, MD – University of Alabama at Birmingham
Cary Fu, MD – Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center
Arthur Beisang, MD – Gillette Children's Specialty Healthcare
Peter Heydemann, MD – Department of Pediatrics-Neurology, Baylor College of Medicine
Davut Pehlivan, MD – Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine; Blue Bird Circle Rett Center, Texas Children's Hospital
Ryan Bucco, PharmD – Acadia Pharmaceuticals, Inc.
Rationale: Trofinetide is approved for the treatment of Rett syndrome (RTT) in patients aged ≥2 years in the US and patients aged ≥2 years weighing ≥9 kg in Canada. While clinical trials have demonstrated the efficacy and safety of trofinetide in patients with RTT, real-world data are essential to understand its impact in routine clinical practice. Here, we present the results of a retrospective chart review designed to evaluate the real-world effectiveness, safety, and treatment patterns of trofinetide in patients with RTT following its commercial availability in the US in April 2023.
Methods: This multisite study included patients with RTT across 6 clinical sites in the US. Patients were categorized based on timing of initiation of trofinetide: Group A initiated trofinetide after commercial availability and Group B initiated trofinetide during clinical trials. Data were extracted from electronic health records and included demographics, clinical characteristics, treatment regimens, and safety outcomes. Changes in the symptoms of RTT were assessed from baseline to 3, 6, 12, and >12 months postinitiation of commercial trofinetide across domains including general mood, breathing problems, hand behaviors, fine and gross motor skills, repetitive movements, sleep, communication, and alertness. Safety endpoints include incidence and severity of adverse events and serious adverse events. Descriptive statistics were used to analyze the data.
Results: Overall, 51 patients with RTT were included in this analysis. Group A was comprised of 41 female patients with RTT, with a median (interquartile range [IQR]) age of 7.7 (4.5-17.4) years. Group B was comprised of 10 female patients with RTT, with a median (IQR) age of 7.8 (4.9-9.9) years. The median (IQR) age of RTT diagnosis was 2.0 (1.8-4.1) years and 1.9 (1.0-2.3) years in Groups A and B, respectively. All patients had a history of a pathogenic variant in the MECP2 gene. In Group A, 37 (92.5%) and 3 (7.5%) patients had typical and atypical RTT, respectively; all patients in Group B had typical RTT. Data collection and analysis are ongoing; results will be presented at the congress.
Conclusions: This study provides valuable insights into the real-world use of trofinetide in patients with RTT, including its effectiveness, safety, and treatment patterns. These findings will help inform clinical decision-making and optimize patient care in routine practice.
Funding: This study was funded by Acadia Pharmaceuticals Inc.
Behavior