News

Authorities in both the U.S. and Europe have provided positive feedback to Ultragenyx Pharmaceutical regarding plans for a Phase 3 clinical trial testing its gene therapy candidate GTX-102 in people with Angelman syndrome. Now, having completed an end-of-Phase 2 meeting with the U.S. Food and Drug Administration (FDA),…

A molecule dubbed (S)-PHA533533 is able to increase the expression of the UBE3A protein in mouse and human cell models of Angelman syndrome, a new study shows. “We still have a lot of work to do before we could start a clinical trial, but this small molecule provides an…

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…

A previously unreported mutation in the UBE3A gene was found to be the cause of Angelman syndrome for two sisters. The sisters’ journey to obtaining a correct diagnosis was detailed in a paper, “Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters…

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…

The Phase 1/2 KIK-AS clinical trial, which is testing the experimental genetic therapy GTX-102 in children with Angelman syndrome, has finished enrolling patients. With 74 enrolled, including 53 in dose-expansion groups, the therapy’s developer Ultragenyx Pharmaceutical said results will be available in the next few months. “With completion…

Supporters globally are poised for International Angelman Day (IAD), set aside annually on Feb. 15, to call attention to Angelman syndrome and the 500,000 people globally estimated to be affected by the complex neurological disorder. In addition to spreading awareness about Angelman, the event seeks to unite and mobilize…

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…

The Foundation for Angelman Syndrome Therapeutics (FAST) has teamed up with the University of Pennsylvania to develop an investigational gene therapy for Angelman syndrome. The nonprofit has sponsored preclinical research at the Gene Therapy Program at the University of Pennsylvania since 2017 to develop a gene therapy…