Adulthood and Angelman Syndrome: An Overview
In a significant development for the medical community, the U.S. Food and Drug Administration (FDA) is considering approval for OV101, a potential first-of-its-kind medicine to treat Angelman syndrome at its underlying cause. This oral small molecule, developed by Ovid Therapeutics, has shown promising results in a recent Phase 2 study known as the STARS trial.
The STARS trial, which enrolled 78 participants aged 13 to 49 with a confirmed diagnosis of Angelman syndrome, found that OV101 improved Clinical Global Impression score, sleep, behaviour, and motor function in adults and adolescents with the syndrome. The trial also reported a reduction in anxiety levels among participants.
Angelman syndrome, a genetic disorder that typically appears in early childhood, is characterised by intellectual disabilities, limited speech, and seizures. According to the findings of a study published in the American Journal of Medical Genetics, around 47% of adolescents and 71% of adults with Angelman have anxiety issues. Approximately 52% of adults exhibit self-injurious behaviour, and sleep disturbances and epilepsy, which affect about 80% of Angelman children, usually improve over the years in adults. However, seizures occur in about 41% of adult cases with Angelman, and 72% of them still report poor sleep.
The syndrome also leads to several other challenges, such as constipation, affecting about 85% of adults, and scoliosis, or the abnormal sideways curvature of the spine, which is frequent in Angelman, affecting about 20% of children and 50% of adults with the disease.
Despite these challenges, adults with Angelman syndrome can live long and full lives with appropriate treatment and a good support network. Around 68% of adults are able to walk independently, but mobility may be lost as patients age, and joints may stiffen. Most adults communicate through gesturing or with the use of augmentative and alternative communication. Some 13% of adults can speak at least five words, while around 68% are able to communicate their basic needs.
The STARS trial is one of several ongoing clinical trials for potential new treatments for Angelman syndrome. Another promising treatment, ION582, developed by Ionis Pharmaceuticals, has been granted breakthrough therapy designation by the FDA in 2025.
As the medical community continues to work towards finding effective treatments for Angelman syndrome, the potential approval of OV101 marks a significant step forward in the fight against this debilitating condition. With continued research and development, the hope is that more effective treatments will become available to improve the lives of those affected by Angelman syndrome.
