Author Archives: Jose Marques Lopes PhD

Nonverbal patients with Angelman syndrome do not necessarily differentiate between known names — their own or those of others close to them — and unfamiliar names, as assessed through measurements of brain responses, a study suggests. The study, “Social–emotional processing in nonverbal individuals with Angelman syndrome:…

Ovid Therapeutics is planning to start a pivotal Phase 3 trial of OV101 (gaboxadol), its investigational oral therapy, in children ages 4-12 with Angelman syndrome. The company’s decision is based on an end-of-Phase 2 meeting with the U.S. Food and Drug Administration. If successful, the Phase 3 study, named…

Treatment candidate OV101 showed a favorable safety profile and was well-tolerated in adults and adolescents with Angelman syndrome in a Phase 2 trial, according to a press release from Ovid Therapeutics, which is developing the therapy. With these positive results, Ovid now plans to start an open-label extension…

A mutation in the UBE3A gene, whose loss causes Angelman syndrome, activates a molecular pathway that is critical to brain development, new research shows. The study, “The autism-linked UBE3A T485A mutant E3 ubiquitin ligase activates the Wnt/β-catenin pathway by inhibiting the proteasome,” appeared in the…

A specific type of magnetic resonance imaging (MRI) can be used to detect oxidative stress in mouse models of Angelman syndrome and Alzheimer’s disease, new study shows. Hippocampus oxidative stress is considered pathogenic in neurodegenerative and neurodevelopmental disorders, such as Angelman syndrome. Yet the clinical benefits of antioxidant treatment for…

Patients with Angelman syndrome (AS) often have gastrointestinal (GI) issues such as constipation, reflux and abnormal food-related behaviors, according to new research. The study, “Prevalence of gastrointestinal symptoms in Angelman syndrome,” appeared in the American Journal of Medical Genetics Part A. Its senior author is…

Sleep problems in children with Angelman syndrome (AS), particularly abnormal nighttime duration and night-walking, start in early infancy, a new study shows. The research, “Sleep phenotypes in infants and toddlers with neurogenetic syndromes,” was published in the journal Sleep Medicine. Children with neurogenetic syndromes…

In a mouse model of Angelman syndrome (AS), pain sensitivity increased due to genetic alterations in the central nervous system, new research from The University of North Carolina at Chapel Hill (UNC) shows. The study, “Enhanced nocicepion in Angelman syndrome,” was published in…

Sleep disturbances and epilepsy, which affect about 80 percent of pediatric Angelman syndrome patients, improve over the years, new Italian study shows. The study, “Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients,” appeared in the journal…

Sleep problems of children with Angelman syndrome (AS) take a toll on parents as well, according to a study that takes a closer look at those challenges than previous research. The findings of the study, which was based on interviews with parents, prompted the research team to call for ways to…