Stormy Chamberlain, PhD, from the University of Connecticut, discusses the recently announced research collaboration between UConn and Ovid Therapeutics to accelerate the development of a short hairpin RNA (shRNA)-based therapy for the treatment of Angelman syndrome.
Angelman syndrome is a rare neurodevelopmental disorder. Common signs of Angelman syndrome include severe speech impairment, ataxia, seizures, sleep disorders, and microcephaly. Adults with Angelman syndrome tend to have coarse facial features, fair skin and hair color, and scoliosis. Those affected by Angelman syndrome usually have normal lifespans but are unable to live independently.
The most common cause of the syndrome is a disruption in the UBE3A gene.
Recently, it was announced that the University of Connecticut will be collaborating with Ovid Therapeutics to better understand this rare disease and develop a treatment option. As Dr. Chamberlain explains, the collaboration will hopefully lead to a new shRNA gene therapy that can be used as a treatment for Angelman syndrome either individually or in combination with Ovid’s gaboxadol, a small-molecule delta-selective GABAA receptor agonist currently being evaluated in the Phase 3 NEPTUNE trial as a treatment for Angelman syndrome. The results of this study are expected in late 2020. For more details on this collaboration, go here.
For more information on Angelman syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology.