News

The U.S. Food and Drug Administration (FDA) has designated  NSI-189  an orphan drug to help advance Neuralstem’s lead compound in development as a potential treatment of Angelman syndrome. Angleman “is a rare disease with significant unmet medical need, and for which there…

Deregulation of the brain’s ability to filter real neural signals without becoming overloaded could be the key to understanding the variety and severity of symptoms experienced by Angelman syndrome patients, according to researchers. The study, “Pathophysiological impact of diverse dysregulation of tonic inhibition in Angelman syndrome,” was presented by…

Treatment candidate OV101 showed a favorable safety profile and was well-tolerated in adults and adolescents with Angelman syndrome in a Phase 2 trial, according to a press release from Ovid Therapeutics, which is developing the therapy. With these positive results, Ovid now plans to start an open-label extension…

Abnormalities in a protein complex crucial for cell survival are likely caused by increased levels of the p18 protein and result in motor and cognitive issues in Angelman syndrome, a new mouse study shows. A study titled “UBE3A-mediated p18/LAMTOR1 ubiquitination and degradation regulate mTORC1 activity and synaptic plasticity”…

New instruments for researching Angelman syndrome should be developed to make sure patient outcomes are relevant and properly registered and catalogued in clinical trials, a new study suggests. Current clinical outcomes assessments (COAs) that measure a patient’s symptoms, overall mental state, or the effects of a disease or condition on…

The Angelman Syndrome Foundation has awarded a $200,000 research grant to investigate the use of CRISPR-Cas9 gene editing technology as a therapy to rescue the faulty gene underlying the disease. A rare but serious disease, Angelman syndrome is caused by the absence or malfunction of the UBE3A gene. We inherit two…

PTC Therapeutics will acquire Agilis Biotherapeutics and its gene therapy program for Angelman syndrome. The transaction is expected to be completed in a few months. Agilis is a biopharma focused on developing gene therapies for rare central nervous system (CNS) diseases, such as Angelman syndrome and Friedreich’s ataxia. PTC is a…

Two organizations that specialize in Angelman syndrome have scheduled back-to-back conferences at the University of North Carolina (UNC) at Chapel Hill early next month to discuss emerging research on therapies for the disease. Both events take place at the Carolina Inn, which is on the UNC campus in Chapel…

A process known as “mosaic imprinting” may be responsible for milder symptoms observed in patients with atypical Angelman syndrome, according to a case series on three young patients. The study, “Atypical Angelman Syndrome Due to a Mosaic Imprinting Defect: Case Reports and Review of the Literature” was…

Patients with Angelman syndrome have significant volume loss of the brain’s gray matter, possibly contributing to motor dysfunction, a study suggests. The study, “From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study,” was published in PLOS One. Angelman syndrome is…