News

Behavioral tests based on how well a child performs specific tasks may be promising tools for evaluating memory and motor abilities in those with Angelman syndrome (AS) and be of particular use in clinical trials, a pilot study reports. The study, “Using Behavioral Approaches to Assess Memory, Imitation and…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Treatment with cannabidiol reduces seizures and abnormal electric brain activity in mice with Angelman syndrome (AS), supporting its use as an anti-seizure treatment for patients, a study finds. The study, “Cannabidiol attenuates seizures and EEG abnormalities in Angelman syndrome model mice,” was published in bioRxiv, a…

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,…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Anxiety, especially separation distress, is very common among older children with Angelman syndrome and should be taken into consideration by doctors to improve both their quality of life and that of their family members, a study says. Findings of the study “Anxiety-associated and separation distress-associated behaviours in…

Ovid Therapeutics has initiated the pivotal Phase 3 NEPTUNE trial to evaluate the experimental small molecule OV101 for the treatment of Angelman syndrome. The trial expects to enroll approximately 60 children ages 4–12, with enrollment set to begin during the third quarter of 2019 and top-line data…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…