Rett Syndrome

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.

There are currently no approved medicines for Rett syndrome. The US Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have both granted Orphan Drug designation to Neuren for trofinetide in Rett syndrome. The FDA has also granted Fast Track designation.

Neuren's North American partner for trofinetide, ACADIA Pharmaceuticals, has announced positive top-line results from a Phase 3 trial in Rett syndrome and submitted a New Drug Application (NDA) to the FDA in July 2022 for treatment of Rett syndrome in patients two years of age and older. The NDA was accepted by the FDA for Priority Review with the Prescription Drug User Fee Act (PDUFA) date set for 12 March 2023. Neuren previously conducted a Phase 2 double-blind placebo-controlled clinical trial in girls aged 5 to 15 years with Rett syndrome, in which statistically significant and clinically meaningful improvement was demonstrated. This followed positive trends observed in Neuren's earlier Phase 2 trial in adolescents and adults aged 16 to 45 years. (International Rett Syndrome Foundation, or IRSF) has provided advice to Neuren on clinical trial strategy, introductions to leading clinical investigators and grant towards the cost of Neuren’s Rett syndrome trials. Support from an advocacy organisation such as IRSF in discussions with the FDA and communications with patients, families and investigators is an important factor assisting with the successful implementation of Neuren’s development programs.