Yael Shiloh-Malawsky, MD, with co-investigators Diana Cejas, MD, MPH, and Jane Fan, MD, with research coordinator Yulissa Gonzalez, commissioned the UNC School of Medicine site for Acadia Pharmaceuticals’ FDA-approved clinical trial for the treatment of Rett syndrome. led. .
This spring, Acadia Pharmaceuticals Inc. announced that the FDA has approved DAYBUE (trophinetide) for the treatment of Rett syndrome in adults and children aged 2 years and older. DAYBUE is the first and only drug approved for the treatment of Rett syndrome.
UNC School of Medicine was part of this multi-site clinical trial led by Yael Shiloh-Malawsky, MD, associate professor of neurology. Collaborators were Diana Cejas, MD, MPH, and Jane Fan, MD, Professor of Neurology. The principal research coordinator was Julissa Gonzalez.
Rett syndrome is a complex and rare neurodevelopmental disorder usually caused by genetic mutations in the MECP2 gene. It is characterized by a period of normal development from 6 to 18 months of age followed by profound developmental regression with loss of acquired communication skills and intentional hand use. Symptoms may also include hand wringing, clapping, and gait abnormalities. Rett syndrome is thought to affect between 6,000 and 9,000 patients in the United States, with a diagnosed population of approximately 4,500 US patients.
FDA approval of DAYBUE is supported by results from the pivotal Phase 3 LAVENDER trial, which evaluated the efficacy and safety of trophinetide versus placebo in 187 women with Rett syndrome aged 5 to 20 years. I was. In this study, treatment with DAYBUE was statistically superior to placebo for both primary efficacy endpoints, as measured by the change from baseline on the Rett Syndrome Behavioral Questionnaire and the Clinical Overall Impression Improvement Scale score. showed significant improvement in
Melissa Kennedy, CEO of the International Rett Syndrome Foundation, said: “Rett syndrome is a complex and devastating disease that affects not just the individual patient, but the entire family. We have a promising new treatment option that has demonstrated benefits across a range of Rett conditions, including those that affect our daily lives.”
Click here for Acadia’s press release.