Rett syndrome is a seriously debilitating neurological disorder that occurs almost exclusively in females following apparently normal development for the first six months of life. Typically, between 6 to 18 months of age, patients experience a period of rapid decline with loss of purposeful hand use and spoken communication. Many patients have recurrent seizures. They experience a variety of motor problems including increased muscle tone (spasticity) and abnormal movements. These individuals are never able to provide fully for their own needs, with most requiring life-long medical care and 24 hour a day supportive care as they grow older. Most Rett syndrome patients live well into adulthood. In addition to direct costs for medical and related services, costs for institutional and special education services as well as the financial and emotional impact on families are very large. Rett syndrome is caused by mutations on the X chromosome on a gene called MECP2. There are more than 200 different mutations found on the MECP2 gene that interfere with its ability to generate a normal gene product. Rett syndrome strikes all racial and ethnic groups and occurs worldwide in approximately 1 in every 10,000 to 15,000 live female births.
Acadia Pharmaceuticals has a worldwide exclusive licence from Neuren for trofinetide. On 10 March 2023 Acadia received marketing approval from the U.S. Food and Drug Administration (FDA) for Daybue™ (trofinetide) to treat Rett syndrome in adults and pediatric patients 2 years of age and older in the United States.
Click here for information about DAYBUE™ (trofinetide)