Patricia Inacio, PhD, science writer —

The European Commission (EC) has granted orphan drug designation to Ovid Therapeutics’ OV101 for the treatment of Angelman syndrome. The therapy is being tested in the Phase 3 NEPTUNE trial that soon will begin enrolling participants. Orphan drug status is intended to encourage therapies for rare and serious diseases,…

Nonverbal Angelman syndrome patients can learn new information by exposure to repeated auditory stimuli, a new study shows. Measuring brain electrical activity can help evaluate patients’ auditory learning and memory capacity. The study, “Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman…

New data from Ovid Therapeutics’ Phase 2 STARS trial shows that treatment with oral candidate OV101 once daily at a dose of 15 mg significantly improves sleep and motor skills in adult and adolescent Angelman patients. Alex Kolevzon, MD, professor of psychiatry and pediatrics at the Icahn School…

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…

Certain genetic defects of maternal origin may be a potential cause of autism spectrum disorder, a neurodevelopmental disorder often found in Angelman syndrome patients, a study suggests. The study, “A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3,” was published in the European…

Loss of the maternal copy of the UBE3a gene in a specific set of nerve cells called GABAergic neurons is a key factor underlying Angelman syndrome, a mouse study suggests. The study, “GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility,” was published in the…

The seizures of Angelman syndrome patients are dynamic in nature and may change with age. While myoclonic seizures usually happen in early childhood, adolescents and young adults mainly have nonepileptic myoclonus, according to a retrospective study. The study, “Myoclonus in Angelman syndrome,” was published in the journal Epilepsy & Behaviour.

A potential target of the UBE3A enzyme, the protein underlying Angelman syndrome, has been identified in a recent study. The protein, called DNA damage-inducible protein 1 homologue 1 (DDI1) is expressed in the developing brain of mouse models and is a target of the UBE3A enzyme in human…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to GTX-101, GeneTx Biotherapeutics’s investigational compound for the treatment of Angelman syndrome. GTX-101, which is GeneTx’s first drug candidate, is an antisense therapy that can silence gene expression by binding to the RNA molecule that converts the gene into a…

Children and young adults with Angelman syndrome rely on a broad set of tools for communication, including speech, facial expressions, gestures, and symbols, a study suggests. The findings support the notion that teaching can help them improve what scientists call expressive communication skills, which go far beyond speech. The study,…