Characteristics of adult individuals with Rett syndrome treated or untreated with trofinetide in the United States.

Authors

Nazia Rashid, Alyssa Peckham, Vinod Kumar Yakkala, Louise Cosand, Krithika Rajagopalan

Published in

Frontiers in neurology. Volume 17. Pages 1856312. Epub Jul 27, 2026.

Abstract

Rett syndrome (RTT) is a rare, progressive MECP2-related neurodevelopmental disorder with substantial lifelong morbidity that persists into adulthood. Although survival has improved, adults often experience evolving multisystem complications and fragmented transition care. Trofinetide (TROF) is approved for ages ≥2 years old, yet data on adults with RTT in the real-world setting remains limited; this study evaluated demographics and characteristics of adults >20 years of age who are treated vs. untreated with TROF.
A retrospective analysis of individuals with RTT diagnosis (ICD-10-CM: F84.2) from a linked medical claims and specialty pharmacy database from 01/01/2021 to 09/30/2024 was conducted. RTT individuals were categorized into two groups based on treatment status: treated group (index date: 1st TROF prescription (RX) 04/01/2023 to 03/31/2024) and untreated 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. RTT individuals were required to have continuous enrollment for ≥6 months pre-index and post-index. Demographics and clinical characteristics were assessed during pre-index among the treated and untreated groups. Continuous variables were summarized as means and SD; categorical variables as counts and percentages.
There were 1,820 adult RTT individuals (>20 year old) eligible for the analysis: treated group (n = 290 [15.9%]) and untreated group (n = 1,530 [84.1%]). Mean age (SD) at index date was 30.9 (9.9) years (treated group) vs. 33.5 (10.0) years (untreated); and 5.5% vs. 6.7% were males in the treated vs. untreated groups, respectively. Treated group had higher rates of differential diagnoses, but similar rates of baseline comorbidities among both. Treated group also had higher rates of RTT related clinical features vs. untreated group.
In this real-world analysis, only 16% of eligible adult RTT individuals were initiated on TROF, while 84% remain untreated. There is a high unmet need for adult individuals with RTT to initiate treatment with TROF. Treated group had higher rates of RTT related clinical features and differential diagnoses; however, the observation that TROF is being used in adults with greater to similar baseline complexity compared to untreated may provide reassurance for prescribers to consider TROF in adults who were untreated.

PMID:
42577214
Bibliographic data and abstract were imported from PubMed on 11 Aug 2026.

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