Adult Onset of Angelman Syndrome
In a significant breakthrough for individuals living with Angelman syndrome, a new treatment called OV101 (gaboxadol) is under consideration for approval by the U.S. Food and Drug Administration (FDA). Developed by Ovid Therapeutics, this oral small molecule is being hailed as the first of its kind in the U.S. to focus on treating the underlying cause of Angelman syndrome.
Angelman syndrome, a rare genetic disorder, typically appears in early childhood. Individuals with this condition experience intellectual disabilities and limited speech throughout their lives, with around 13% of adults able to speak at least five words. Communication is often facilitated through gesturing or the use of augmentative and alternative communication methods, and around 68% of adults are able to communicate their basic needs.
The disorder also brings about a host of physical symptoms. Scoliosis, or the abnormal sideways curvature of the spine, is frequent in Angelman, and researchers have reported the condition in about 20% of children and 50% of adults with the disease. Constipation is another common symptom, affecting about 85% of adults with Angelman syndrome.
One of the most challenging aspects of living with Angelman syndrome is the high prevalence of anxiety and self-injurious behavior. According to various studies, around 47% of adolescents and 52% of adults with Angelman exhibit anxiety issues, while 52% of adults demonstrate self-injurious behavior.
In a recent Phase 2 study, the experimental treatment, OV101, was found to reduce anxiety and improve several aspects of the disease, including sleep, behavior, motor function, and Clinical Global Impression score. The study, known as the STARS trial (NCT02996305), enrolled 78 participants aged between 13 and 49 with a confirmed diagnosis of Angelman syndrome.
The treatment has proven generally safe in trials, with most side effects being mild. This is crucial, as individuals with Angelman syndrome can live long and full lives with appropriate treatment and a good support network.
It's important to note that OV101 is one of several treatments currently being developed for Angelman syndrome. Sleep disturbances and epilepsy, which affect about 80% of Angelman children, usually improve over the years. In adults, seizures occur in about 41% of cases, although 72% of those with the disease still report poor sleep.
As the FDA considers the approval of OV101, there is hope for a new era in the management and treatment of Angelman syndrome. With continued research and development, it is possible that we will see even more effective treatments for this rare but impactful disorder in the near future.
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