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FDA Approves Trofinetide for Treatment of Rett Syndrome

Rett syndrome is a rare neurodevelopmental disorder with a wide range of complex symptoms. Children with Rett syndrome typically experience a period of neurological regression where they may lose previously acquired gross motor, fine motor, and communication skills. With breathing abnormalities, gait disturbances, and disruptive hand stereotypies, individuals with Rett syndrome and their families may have a decreased quality of life. Therefore, after years in the making, families and professionals in the Rett Community are celebrating as the FDA approves the first treatment for Rett syndrome.

Trofinetide, now to be marketed as DAYBUE, mimics a naturally occurring growth factor to help decrease inflammation in the brain. It is also thought to improve synaptic function and stimulate synaptic maturation in Rett syndrome. Dr. David Lieberman, MD, PhD, Director of the Boston Children’s Hospital’s Rett Clinic, and other members of the RSZ TNC’s Rett Research Program have been involved in clinical trials for trofinetide since 2016. Since the initial trial with Neuren Pharmaceuticals, team members such as research nurse Grace Correa, MSN, RN, CPNP, genetic counselor Lindsay Swanson, MS, CGC, and others have led four additional clinical trials for the drug with Acadia Pharmaceuticals. Along with the commitment of the research team, many Boston Children’s Hospital families have dedicated their time and efforts to several trials over the years. Understandably, many families are excited for DAYBUE to become available by late April 2023.

Each individual with Rett syndrome is unique and therefore faces unique challenges managing their symptoms. As such, a variety of treatment options need to be available to families. The approval of trofinetide is just the beginning of the treatment discoveries for Rett syndrome. For example, Neurogene Inc. recently announced FDA clearance to begin their gene therapy trial and Taysha Gene Therapies has already begun their gene therapy trial for adults with Rett syndrome in Canada. Dr. Lieberman and the Rett Research Program here at Boston Children’s Hospital join the Rett Community in their excitement for the future discoveries that lie ahead.

To learn more about Boston Children’s Hospital’s Rett Syndrome Program and the dedicated researchers that have helped contribute to this exciting breakthrough, please use the link below.