News

A $5 million gift is supporting a University of California San Diego (UC San Diego) gene therapy initiative aimed at finding novel treatments for children and adults with genetic disorders. The launch of the Gene Therapy Initiative, made possible by the donation from the Nancy and Geoffrey Stack Foundation,…

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…

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…

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…

GTX-102, a gene therapy for Angelman syndrome, continues in a clinical trial to be safe and show benefit when taken for over a year, with the longest period being nearly two years, according to its developer, Ultragenyx Pharmaceutical. No new serious side effects or reports of leg weakness…

Angelman Syndrome Foundation Canada (ASF Canada), formerly the Canadian Angelman Syndrome Society (CASS), officially opens on Oct. 21 with the Stronger Together Charity Ball, an evening of celebration and inspiration. The black-tie event, which is intended to raise awareness about Angelman syndrome, also kicks off ASF Canada’s affiliation…

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…

To help patients and their families make the most of available treatments, the clinical diagnostics laboratory Baylor Genetics is offering an analysis of genes related to epileptic disorders such as Angelman syndrome. The disease-specific panel, which can be used in outpatient settings, is intended to help clinicians determine…

The Angelman Syndrome Foundation (ASF) is seeking applicants for its first Jacob Pritzker Fellowship, a program established to address the growing need for physicians with knowledge about Angelman syndrome, a complex neurological genetic disorder. The program will award at least one fellowship of up to $100,000 annually…

A year after it was established by the Center for Drug Evaluation and Research (CDER), the Accelerating Rare disease Cures (ARC) Program is seeking to build on efforts to bridge the gap between patients’ pressing needs and the challenges of developing rare disease treatments. The U.S. Food and Drug…