Marisa Wexler, MS,  senior science writer—

The first person has been dosed in a Phase 3 clinical trial testing GTX-102 (apazunersen), Ultragenyx Pharmaceutical’s experimental therapy, in a broad population of Angelman syndrome patients. The study, dubbed Aurora (NCT07157254), is the second Phase 3 trial of GTX-102 in Angelman patients. The first, called Aspire (NCT06617429),…

The genetic medicine rugonersen (RO7248824) may be able to target the underlying cause of Angelman syndrome. A study found that the treatment — tested in early clinical trials and expected to enter Phase 3 trials early next year — restored UBE3A protein activity in mouse and primate models of the…

The Phase 3 clinical trial that’s testing an experimental therapy for Angelman syndrome has finished enrolling patients. The Aspire study (NCT06617429), whose results are expected in late 2026, achieved full enrollment, with about 129 participants, barely half a year after it began enrolling last December, according to…

The U.S. Food and Drug Administration (FDA) has given Mavrix Bio the go-ahead to start a first-in-human clinical trial testing MVX-220, the company’s experimental gene therapy for Angelman syndrome. The FDA approved Mavrix’s investigational new drug application (IND), which is a formal request to begin clinical trials of the…

Some people with Angelman syndrome may experience a phenomenon known as gelastic syncope, where laughter leads to a loss of consciousness, a report involving a teenager and two adults highlights. “The goal of this article is to bring specific awareness of gelastic syncope to clinicians and caregivers and to…

Rebecca Burdine, PhD, a professor at Princeton University, received two awards for her contributions to Angelman syndrome research. The Angelman Syndrome Foundation awarded Burdine the 2024 Harry and Audrey Angelman Award for Meritorious Service. The award, named for Harry Angelman, the doctor who first formally described Angelman syndrome,…

Note: This story was updated Aug. 13, 2024, to correct the spelling of the measure of cognitive development to Bayley-4. 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…

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…

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…

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…