Marisa Wexler, MS, senior science writer —

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…

Angelman syndrome patients who experience falls or sleep problems tend to have worse quality of life, according to a survey of caregivers. “Significant findings from this caregiver study revealed that the ability to walk and ambulate is associated with higher [quality of life], whereas falls, problems with sleep, and…

The protein Ube3a, whose defect causes Angelman syndrome, helps regulate connections between brain cells during development. That’s according to the study, “Presynaptic Ube3a E3 ligase promotes synapse elimination through down-regulation of BMP signaling,” which was published in Science. “Our findings reveal the physiological role of Ube3a…

Combining outcomes at clinic visits with those of at-home monitoring may be an effective way of determining an experimental treatment’s effectiveness in Angelman syndrome (AS) clinical trials, researchers report. Overall adherence in a yearlong observational study of AS patients “indicate that the key clinical aspects of AS identified by…

Two new standardized tools to measure the severity of Angelman syndrome (AS) in children — one based on clinician assessments and another on caregiver reports — have been developed and are in use in clinical trials to measure the disease’s severity and evaluate the impact of potential treatments. These…

A team of scientists in Italy has developed new nanoparticles that could deliver therapies to the brain through the nose. The effort was funded by the Angelman Syndrome Alliance as part of an effort to develop new brain-targeting therapies for Angelman syndrome. The new particles were described in…

Following lackluster data in Phase 1 testing, Roche announced it will not initiate new trials of the experimental therapy rugonersen (RO7248824) in treating people with Angelman syndrome. Although the therapy “has demonstrated an acceptable safety profile,” the company stated in a release, it will “not to move forward…

Parents of children with Angelman syndrome are less economically productive, which results in millions of dollars of lost productivity for society as a whole, according to a new study in Australia. “The present study highlights the significant impact that caring for a child with [Angelman syndrome] imposes on parents’…

The Angelman Syndrome Alliance (ASA) is currently accepting grant applications from scientists who are doing basic research to enhance understanding of Angelman syndrome and possibly pave the way toward future treatments. “Researchers of any country are invited to apply for research grants covering ‘basic science’ research that can…

Spinal surgery for scoliosis carries a high likelihood of complications, including serious ones, among people with Angelman syndrome and a related disorder known as Prader-Willi syndrome, a study highlights. “These findings provide additional evidence to support the idea that surgical intervention in patients with scoliosis with underlying AS [Angelman…