News

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…

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…

JettSet1 Enterprises is partnering with preclinical stage biopharmaceutical company Biom Therapeutics to help it develop BIO017, a plant-derived cannabinoid treatment candidate for Angelman syndrome. JettSet1 has partnerships across various industries, from biotech and film to beverage and real estate. It was founded earlier this year by George…

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’…

Despite having few signs and symptoms of Angelman syndrome (AS), an infant boy was eventually diagnosed by genetic testing as a result of his nonspecific developmental delays and unexplained low muscle tone, according to a case study. “This report is a good example for giving clinicians a lower threshold…

Increases in autophagy, a pathway for clearing cellular waste, were observed in cell and mouse models of Angelman syndrome (AS) in a recent study that revealed new details of this disease mechanism. Researchers noted that it isn’t yet clear whether this increase is a compensatory process to help restore…

Ultragenyx Pharmaceutical has been cleared by the U.S. Food and Drug Administration to proceed to higher dosing of its investigational gene therapy GTX-102 in children and adolescents with Angelman syndrome in a Phase 1/2 clinical trial. The amendment to the KIK-AS trial (NCT04259281) protocol in the…