The trial in Oxford is run by the STRONG research group of the Department of Paediatrics and the MDUK Oxford Neuromuscular Centre led by Professor Laurent Servais. Investigators, families, and the community are excited about the developments for Angelman syndrome in Oxford and look forward to seeing the results of the first of, hopefully, many more trials to come. This is the beginning of a new era for Angelman syndrome, where potential treatments targeting the root cause, the lack of functional UBE3A protein, are reaching the patients’ bedside.
Angelman syndrome is a rare, genetic disorder, which affects the development of the nervous system. It results in severe developmental delay, balance issues, motor impairment and debilitating seizures.Some individuals with Angelman syndrome are unable to walk and most do not speak. It affects approximately 1 in 12,000 to 1 in 20,000 people globally. Most cases are not inherited, but instead occur spontaneously. With current practices, Angelman syndrome is not routinely detected before or at birth. At this time, there is no approved treatment and individuals are managed with non-specific medication to alleviate symptoms of Angelman syndrome. Affected individuals have a normal lifespan but never become independent adults. The diagnosis has a severe impact on family life, as these individuals need someone to care for them around the clock. Most caregivers must dedicate themselves to the care of their individual diagnosed with Angelman syndrome.