Vagal nerve stimulation may effectively reduce seizures in children with Angelman syndrome with treatment-refractory epilepsy, a case series report shows. The device also made the children more alert and attentive, researchers reported. Since the study involved only three patients, for which researchers analyzed outcomes retrospectively, the team argued that randomized…
In rare cases, loss of part of the UBE3A gene can lead to Angelman syndrome, Spanish researchers report. The team at the Autonomous University of Barcelona based their conclusion on a case study of two children with Angelman features. Their work added to the little knowledge there is about gene deletions causing…
Ovid Therapeutics will modify its ongoing Phase 2 trial of OV101 to add adolescents with Angelman syndrome aged 13 and older to the adults it continues to recruit. The decision came after a Phase 1 trial showed that adolescents process the drug the same way adults do, suggesting it…
Ovid Therapeutics is recruiting adult patients with Angelman syndrome to a Phase 2 clinical trial of gaboxadol, a compound that aims to treat the disease by restoring lost inhibitory brain signaling. The study, which is running in a number of U.S. clinics and Israel, aims to recruit 75 patients…
Machine learning methods could improve the ability of clinical trials to detect if treatments targeting the brain — such as for Angelman syndrome — are effective, as these methods are more sensitive to change than traditional statistical tests, say researchers from University College London. Such methods could solve the problem…
The successful development of meaningful therapies for rare diseases such as Angelman syndrome requires scientists to find out what matters most to patients with these conditions, two European researchers argued in an opinion piece promoting patient-centered outcomes. In the commentary, published in the Orphanet Journal of Rare Diseases, the…
Agilis Biotherapeutics said its Angelman syndrome gene therapy development is on track, with initial animal studies making way for tests needed before the therapy can be tried in humans. The Cambridge, Massachusetts, company announced that it plans to choose a lead candidate before consulting the U.S. Food and Drug Administration…
Researchers in India might have identified an enzyme that is crucial to forming connections between neurons. Defects in this enzyme – called the Rnf2 E3 ligase – is thought to lead to neuronal conditions like Angelman syndrome. Their study, “Modulation of hippocampal synapse maturation by activity-regulated E3 ligase via non-canonical…
A global online Angelman syndrome registry that Australian researchers started in September 2016 has researched a critical mass, its founders report. Two hundred eighty-six people joined the registry in its first eight months. That number should not only help facilitate research but also help scientists identify patients who might want…
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