Alan Percy, MD, Professor of Pediatrics, Neurology, Neurobiology, Genetics, and Psychology at University of Alabama, Birmingham and lead author for the LILAC-1 and LILAC-2 studies, discusses long-term data from clinical trial extension of trofinetide in patients with Rett syndrome.
Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome.
It is a progressive, neurodevelopmental disorder, but infants with Rett syndrome generally develop normally for about 6 to 18 months after birth. After this period, these children experience development regression, and motor control anomalies (e.g., ataxia, uncontrolled hand movements) begin to emerge. With a heterogenous presentation, recognition of Rett syndrome can be challenging.
Trofinetide Studies
Trofinetide is a synthetic analog of the N-terminal tripeptide of insulin-like growth factor 1. It was approved by the U.S. Food and Drug Administration for the treatment of Rett syndrome in 2023. LILAC-1 was a 40-week, open-label extension of the phase 3 LAVENDER trial evaluating the long-term safety and efficacy of trofinetide in patients ages 5 to 21 years with Rett syndrome. LILAC-2 was a 32-month open-label extension evaluating the long-term safety and efficacy of trofinetide in female patients, ages 5 to 22 years who completed LILAC-1.
Patients who completed these studies experienced an improvement in symptoms as measured by the Rett Syndrome Behaviour Questionnaire (RSBQ). Patients from the LAVENDER trial were eligible for the 40-week LILAC-1 study (n=154), and then, the 32- week LILAC-2 (n=77) study. 27 caregivers participated in an optional exit interview to observe their experiences with Rett syndrome and the trofinetide treatment during the studies. The most frequent improvements that caregivers reported were engagement with others (46.2%), hand use (42.3%), eye gaze (30.8%), new sounds (23.1%), and new words (19.2%).
Additionally, no new safety concerns were observed with profiles consistent with that observed in the LAVENDER trial. The most common side effects were diarrhea and vomiting.
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To learn more about Rett syndrome and other rare genetic diseases, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/
