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A clinical study has began to enroll patients with Angelman syndrome to explore the safety and tolerability of a nutritional formula supplemented with ketones for use in dietary interventions. This study is being conducted by Disruptive Nutrition, the keto-medical foods company subsidiary of Disruptive Enterprises, in collaboration with researchers…

Nonverbal patients with Angelman syndrome do not necessarily differentiate between known names — their own or those of others close to them — and unfamiliar names, as assessed through measurements of brain responses, a study suggests. The study, “Social–emotional processing in nonverbal individuals with Angelman syndrome:…

Coffin-Siris syndrome (CSS) should be included in the differential diagnosis of Angelman syndrome, say researchers, after describing the case of a 14-year-old boy who harbored a genetic mutation associated with CSS and experienced typical symptoms of Angelman syndrome. The findings were reported in the study, “Identification…

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…

With the addition of clinics in Canada and Israel, the Angelman Syndrome Foundation (ASF) now has an international network of Angelman Syndrome Clinics staffed with Angelman syndrome (AS) experts. The Children’s Hospital of Eastern Ontario (CHEO) in Ottawa, Canada, and the Edmond and Lily Safra…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

A significant proportion of mothers of children with rare genetic syndromes, such as Angelman syndrome, experience levels of stress similar to those reported by mothers of children with autism — a group that has been previously identified as at high risk for mental health difficulties, a study shows. The study,…

Ovid Therapeutics is planning to start a pivotal Phase 3 trial of OV101 (gaboxadol), its investigational oral therapy, in children ages 4-12 with Angelman syndrome. The company’s decision is based on an end-of-Phase 2 meeting with the U.S. Food and Drug Administration. If successful, the Phase 3 study, named…

Newer anti-epileptic medications — such as Keppra (levetiracetam), Lamitcal (lamotrigine), and clobazam — as well as low glycemic index treatment may be more effective in reducing epileptic seizures and associated with fewer side effects than older ones — namely valproic acid and clonazepam…

If successful, an extensive pilot screening study afoot in Australia for Angelman syndrome and three other rare genetic disorders could lead to large-scale testing. With a contribution from the Victorian Medical Research Acceleration Fund, the Angelman Syndrome Foundation (ASF) and the Foundation for Prader-Willi Research (FPWR)…