Trofinetide (Acadia Pharmaceuticals) is effective in improving symptoms in girls and young women with Rett syndrome (RTT), a rare and devastating neurodevelopmental disorder, results from a phase 3 study suggest.

Dr Jeffrey Neul
"In a severe disorder like Rett syndrome that has no approved therapies and where all of our interventions are purely symptomatic, it's very exciting to be at a point where a phase 3 trial shows benefit," study investigator Jeffrey L. Neul, MD, PhD, director of the Vanderbilt Kennedy Center and professor of pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, told Medscape Medical News.
The findings were presented at the American Academy of Neurology (AAN) 2022 Annual Meeting.
Rare, Devastating Condition
A neurodevelopmental disorder occurring almost exclusively in females, RTT is caused by mutations on the X chromosome on the methyl-CpG binding protein-2 ( MECP2 ) gene. The condition is rare, occurring in 1 in 10,000-15,000 female births. In the US, it affects about 6000 to 9000 individuals.
Symptoms typically present between 6 and 18 months of age, with patients experiencing a rapid decline with loss of fine motor and communication skills.
Rett syndrome is thought to be associated with severe intellectual disability, but since patients have limited ability to speak or use hand movements, they're unable to complete standardized tests, said Neul.