Demographic and Clinical Characteristics among Adult Individuals with Rett Syndrome Treated with Trofinetide vs Untreated
Abstract number :
3.49
Submission category :
16. Epidemiology
Year :
2025
Submission ID :
1481
Source :
www.aesnet.org
Presentation date :
12/8/2025 12:00:00 AM
Published date :
Authors :
Presenting Author: Kitty Rajagopalan, PhD, MS – Anlitiks, Inc
Vinod Yakkala, PhD – Anlitiks, Inc
Daksha Gopal, PhD – Anlitiks, Inc
Nazia Rashid, PharmD, MS – Acadia Pharmaceuticals
Rationale: Trofinetide (TROF) is the only FDA approved treatment for Rett (RTT) syndrome in patients ≥2 years of age. TROF has been studied among individuals with RTT aged 5-20 years (LAVENDER, LILAC-1 and LILAC-2) and 2-4 years (DAFFODIL). The data generated from the Phase 3 clinical trials does not include individuals with RTT >20 years of age, thus, this analysis will help educate providers about the demographic and clinical characteristics among adult RTT individuals overall and for those initiated on TROF.
Methods: A retrospective analysis of individuals with RTT diagnosis (ICD-10-CM: F84.2) from a linked medical and pharmacy claims database from 01/01/2021 to 09/30/2024 was conducted. RTT individuals were stratified into two groups based on treatment status: TROF group (index date: 1st TROF prescription 04/01/2023 to 03/31/2024) and No-TROF group (index date: assigned date using a risk set sampling method). Individuals who were ≤20 years of age at index date or had diagnosis for brain trauma or cerebrovascular disease prior to RTT diagnosis were excluded. Eligible RTT individuals had to have continuous enrollment for at least 6 months pre-index and post-index. Lastly, the two groups were matched 1:1 based on age, gender, and time from RTT diagnosis to index date. Baseline demographics and clinical characteristics were assessed during the 6-month pre-index period among the two groups. Continuous variables were summarized as means and SD; categorical variables as counts and percentages.
Results: There were 1,820 adult RTT individuals ( >20 year old) eligible for the analysis: TROF group (n=290 [15.9%]) and No-TROF group (n=1,530 [84.1%]). Among the unmatched sample, mean age (SD) at index date was 30.9 (9.9) years (TROF group) vs. 33.5 (10.0) years (No-TROF), respectively. In total, 5.5% vs. 6.7% were males in the TROF vs. No-TROF groups, respectively. Baseline comparisons showed TROF-group vs. No-TROF group had the following: epilepsy (38.6% vs. 37.1%), gastrostomy (25.8% vs. 20.9%), dysphagia (18.9% vs. 18.5%) and scoliosis (14.4% vs. 11.5%). After matching (n=246), mean age (SD) at index was 30.4 (9.4) years (TROF group) vs. 30.3 (8.5) years (No-TROF group), with a similar proportion of males (4.8%). Baseline comparisons showed TROF-group vs. No-TROF group had the following: epilepsy (45.1% vs. 37.4%), gastrostomy (30.0% vs. 23.1%), dysphagia (21.1% vs. 15.4%) and scoliosis (17.0% vs. 12.2%).
Conclusions: Data on adult RTT individuals >20 years is scarce, especially for those initiating TROF. In this real-world analysis, only 16% of eligible adult RTT individuals were initiated on TROF, while 84% remain untreated. After matching, the treated group had higher rates of baseline comorbidities; potentially suggesting individuals with higher severity initiate TROF. Additional insights and analyses are being completed to identify TROF utilization patterns among the adult RTT individuals over 20 years of age.
Funding: The study was funded by Acadia Pharmaceuticals, Inc
Epidemiology