Consider trofinetide for symptom management in Rett syndrome, with new therapies requiring further study

Rett syndrome (RTT) is a rare, genetic, neurodevelopmental disorder that predominantly affects girls. Clinical presentation is defined by regression of acquired motor and communication skills followed by stabilisation or recovery. Other clinical features can include decelerated head growth, breathing difficulties and seizures. Clinicians must therefore balance treatment of multiple comorbidities throughout the management of RTT. Trofinetide is the first drug approved specifically for treatment of neurological symptoms of RTT. While the number of RTT therapy trials has expanded in recent years, positive results have been limited. Additional preclinical and clinical investigations are ongoing.