Lindsey Shapiro, PhD,  science writer—

The U.S. Food and Drug Administration (FDA) has granted fast track designation to MVX-220, Mavrix Bio’s investigational gene therapy for Angelman syndrome that is headed into clinical trials. Fast track designation aims to facilitate the clinical development and regulatory review of therapies intended to treat serious conditions with an…

Sensory problems and other features of autism spectrum disorder (ASD) were prevalent in children with Angelman syndrome and were generally stable over time, a report suggests. Children with the most common type of genetic defect that causes Angelman, called the deletion genotype, exhibited more autistic traits than those…

Supporters are gearing up for International Angelman Day (IAD), a community-driven event held every February that aims to raise awareness for Angelman syndrome and honor those living with or lost to the rare neurodevelopmental disorder. The celebration also aims to promote Angelman research and education and mobilize fundraising…

Children with Angelman syndrome have diminished bone health — which continues to decline with age — compared with their peers in the general population, according to a study by researchers in the Netherlands. Deletions in the UBE3A gene as the cause of disease, as well as immobility, late onset…

The translation into other languages of the Global Angelman Syndrome Registry (GASR) website has substantially boosted global participation by families affected by Angelman syndrome, a study shows. Researchers say adopting multiple languages “helps build and maintain engagement with global disease communities.” The approach could also serve as an…

Emotional and behavioral problems are the symptoms of Angelman syndrome (AS) that most significantly predict lower life quality in children with the genetic disease, according to a study from the Netherlands. Moreover, these issues — along with a child’s sleep problems — were found to have the greatest impact…

A device to remotely monitor sleep in Angelman syndrome (AS) patients, called EarlySense, was found to be feasible for characterizing their sleep patterns in an at-home setting, according to a recent report. The no-contact device recognized sleep patterns similar to those recorded with the gold-standard polysomnography (PSG) test, which involves…

OV101 (gaboxadol) fails to ease disease severity in children with Angelman syndrome (AS), according to recently published final results from the Phase 3 NEPTUNE trial. The findings are overall consistent with previously reported top-line trial data from the treatment’s developer Ovid Therapeutics, which prompted the company…

Increases in autophagy, a pathway for clearing cellular waste, were observed in cell and mouse models of Angelman syndrome (AS) in a recent study that revealed new details of this disease mechanism. Researchers noted that it isn’t yet clear whether this increase is a compensatory process to help restore…

Oxidative stress and mitochondrial dysfunction during early brain development may contribute to symptoms in people with Angelman syndrome (AS), according to a recent study. These cellular changes were observed in developing nerve cells taken from mouse embryos with AS-like disease, but not their healthy counterparts, and were associated with…