Marisa Wexler, MS,  senior science writer—

A clinical trial is evaluating the safety and tolerability of a nutritional formulation containing the ketone beta-hydroxybutyrate (BHB) as a treatment to help control seizures in children with Angelman syndrome. More information about the trial (NCT03644693), called Nutritional Formulation for Angelman Syndrome (FANS), is available here. The…

A first patient has been randomized in the NEPTUNE trial, which is testing oral OV101 (gaboxadol) as a potential treatment for Angelman syndrome. Ovid, the pharmaceutical company that is developing OV101, made the announcement in a press release. OV101 is a small molecule derived from a component found…

Angelman syndrome is caused by a lack of functional UBE3A gene in the brain. Thus, getting brain cells to express a functional UBE3A gene seems like a fairly intuitive therapeutic strategy. Yet at what point during disease progression must UBE3A be introduced in order to avoid the changes seen in…

A new study reports differences in brain activity among Angelman syndrome patients whose disease arises because of changes in the UBE3A gene. The research with that finding, “Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes,” was published in Biological Psychiatry. Angelman syndrome is defined by a lack…