Real-World Demographics, Clinical Characteristics, and Predictors of Persistence Among Males with Rett Syndrome Treated with Trofinetide.

Authors

Krithika Rajagopalan, Vinod Yakkala, Nazia Rashid

Published in

Advances in therapy. Jun 30, 2026. Epub Jun 30, 2026.

Abstract

Rett syndrome (RTT) is a rare neurodevelopmental disease that primarily affects females but also occurs in males. Trofinetide (TROF) is approved in the USA and Canada for individuals with RTT regardless of sex aged ≥ 2 years; efficacy and safety of TROF was primarily studied among females, thus real-world data for males remain limited. This study evaluated real-world characteristics, treatment persistence, and predictors of non-persistence among males with RTT.
This retrospective cohort study using IQVIA database linked to TROF specialty pharmacy claims from 01/01/2021 to 09/30/2024 identified males with ≥ 1 medical claim for RTT (ICD-10 F84.2). Two groups were created based on treatment status and their respective index dates: treated and untreated. Continuous enrollment of ≥ 6 months pre-index and post-index was required. Pre-index demographics and clinical characteristics were compared descriptively. Among treated males, Kaplan-Meier analysis assessed time to non-persistence, and logistic regression evaluated predictors of non-persistence.
Of 8047 individuals with RTT identified in the database, 1219 (15.1%) were males; of these, 75 (6.2%) were treated with TROF and 1144 (93.8%) were untreated; after final study criteria, 51 (10.9%) were treated and 415 (89.1%) were untreated. The mean (SD) age for treated vs untreated males was 18.8 (18.3) vs 17.7 (13.2) years. Neurologists managed most patients treated with TROF (64.7% vs 12.7%). Treated males had higher pre-index rates of epilepsy (52.9% vs 25.5%), gastrostomy (31.4% vs 16.1%), and respiratory failure (25.5% vs 13.3%) than untreated (all p < 0.05). Among treated males, 52.9% were persistent and 47.1% were non-persistent. Approximately 70% remained on TROF for ≥ 6 months and > 50% for ≥ 17 months. Pre-index neurologic disorders were significantly associated with non-persistence.
Most males with RTT remained untreated during this study period, while TROF initiation appeared concentrated among those with greater pre-index concomitant comorbidities and neurology involvement. Persistence beyond 6 months was common, supporting continued long-term use of TROF in males with RTT in real-world practice.

PMID:
42377739
Bibliographic data and abstract were imported from PubMed on 30 Jun 2026.

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