Marisa Wexler, MS, senior science writer —

Ovid Therapeutics‘ OV101 (gaboxadol) has been granted a rare pediatric disease designation by the U.S. Food and Drug Administration (FDA) for the treatment of Angelman syndrome. This designation is…

Asklepios BioPharmaceutical (AskBio) and the University of North Carolina at Chapel Hill (UNC) have entered into an agreement for the development of a gene therapy for Angelman syndrome. Angelman syndrome is caused by the loss-of-function of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene. The…

A new rat model of Angelman syndrome (AS) involves complete deletion of the maternal UBE3A gene, which causes multiple behavioral and neurological abnormalities. This model could be useful for better understanding AS and for testing new therapies. The study, “Translational outcomes in a full gene deletion of…

A conceptual model describing how Angelman syndrome (AS) tends to manifest and affect a person with Angelman and those around them was described in a recent study. The model and its often age-specific points could be useful in guiding care for Angelman, as well as in designing trials and…

Nutrition is an important but under-discussed aspect of care in Angelman syndrome (AS), according to a case report that described the use of a gastronomy button in a child with the disorder who also had a swallowing dysfunction. The report was published in Lifestyle Genomics and titled “…

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…