Exploring Novel Treatments for Rett Syndrome

STATEMENT OF NEED

Rett syndrome is a rare, debilitating neurodevelopmental disorder almost always associated with a spontaneous mutation in the methyl-CpG-binding protein 2 (MECP2) gene on the X-chromosome. Affected individuals experience loss of purposeful hand skills, abnormalities in gait, loss of spoken language, and stereotypic hand movements, with more severe manifestations including seizures, autistic features, autonomic nervous system dysfunction, breathing abnormalities, sleep disturbances, and cardiac abnormalities. While therapies for Rett syndrome are being investigated in clinical trials and have demonstrated modest benefit, no curative or effective disease-modifying treatments currently exist (Petriti et al, 2023). Therefore, the multidisciplinary team is challenged with the optimal management of complex comorbidities that persist throughout patients’ lives. This activity chaired by Timothy John Feyma, MD, Pediatric Neurologist at Gilette Children’s Hospital, will explore novel treatments and quality-of-life improvement strategies for children and adults with Rett syndrome.

TARGET AUDIENCE

Pediatric and adult neurologists, pediatricians, internists, family physicians, child and adult psychiatrists, nurse practitioners, physician assistants, nurses, and other health care professionals involved in the treatment of children and adults with Rett syndrome.

LEARNING OBJECTIVES

Identify distinguishing features of Rett syndrome that can inform early and accurate diagnosis
Evaluate the safety, efficacy, and clinical utility of novel and emerging treatments for Rett syndrome in children and adults
Devise strategies to monitor and manage Rett syndrome symptoms in children and adults