New Therapy Approved for Rett Syndrome

The Food and Drug Administration (FDA) has approved trofinetide (Daybue; Acadia Pharmaceuticals, San Diego, CA) for the treatment of Rett syndrome in adult and pediatric patients 2 years of age and older. This drug represents the first and only approved therapy for the rare genetic neurodevelopmental disorder, which is associated with a progressive loss of motor skills and language.   

The approval of trofinetide was supported by results from the pivotal phase 3 LAVENDER study (NCT04181723) that evaluated the efficacy and safety of the drug versus placebo in 187 female patients with Rett syndrome 5 years of age to 20 years of age. In the study, treatment with trofinetide showed statistically significant improvement compared to placebo for both co-primary endpoints as measured by the change from baseline in the Rett Syndrome Behavior Questionnaire (RSBQ) total score and the Clinical Global Impression-Improvement (CGI-I) scale score at week 12.

“This is a historic day for the Rett syndrome community and a meaningful moment for the patients and caregivers who have eagerly awaited the arrival of an approved treatment for this condition,” said Melissa Kennedy, Chief Executive Officer, International Rett Syndrome Foundation. “Rett syndrome is a complicated, devastating disease that affects not only the individual patient, but whole families. With today’s FDA decision, those impacted by Rett have a promising new treatment option that has demonstrated benefit across a variety of Rett symptoms, including those that impact the daily lives of those living with Rett and their loved ones.” 

Trofinetide is a synthetic version of a naturally occurring molecule, tripeptide glycine-proline-glutamate (GPE).Common adverse reactions for trofinetide include diarrhea and vomiting.