Exploring Novel Treatments for Rett Syndrome is organized by i3 Health.
Dates Available:
December 21, 2023 - December 20, 2024
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.
Learning Objectives:
Upon completion of this activity, participants should be able to
- 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
