Trofinetide providing a promising avenue for the treatment of Rett syndrome

Abstract

Rett syndrome (RTT) is a developmental disability associated primarily with the abnormal functioning of the nervous system. Affecting 1 in 10,000-15,000 women, it results from an inactivating modification in the X-linked genetic code, methyl-CpG-binding protein 2 (MECP2), which codes for a protein that binds to DNA and regulates transcription. Girls with RTT are born with normal prenatal and perinatal periods and appear to be in good health. Their psychomotor growth is typical up to their first or second year of life, at which point brain functional regression starts. Clinical signs of the regression include the emergence of stereotyped hand movements, a loss of fine motor skills, gait apraxia, verbal and nonverbal communication deficits, and epileptic seizures.