News

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)…

Short-term treatment with Neuralstem‘s NSI-189 reversed cognitive and motor impairments in a mouse model of Angelman syndrome, according to study results. This early finding could help to pave the way for this compound, in Phase 2 study for major depressive disorder and seen in an earlier trial to be safe in…

Epileptic seizures caused by disturbances in the activity of a specific type of nerve cell called an inhibitory neuron were prevented by the reactivation of the UBE3A gene in young mice with Angelman syndrome features, a study shows. The study, “Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice,” was published in…

Researchers from the University of North Carolina have found that ubiquitin protein ligase E3A — the malfunction of which is behind Angelman syndrome development — is present in different types of neurons from the cerebral cortex, where it likely exerts its function. According to the authors, this could be one of…

With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit and affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate,…