AGIL-AS is an investigative gene therapy candidate, being developed by Agilis Biotherapeutics to treat Angelman syndrome (AS), a rare genetic disorder characterized by severe intellectual and developmental disability.

How AGIL-AS works

AS is caused by a mutation in the UBE3A gene, which encodes a ubiquitin protein ligase, E6-AP, that is critical to the function of the central nervous system. Ubiquitin ligases are enzymes that attach a small molecule, ubiquitin, to mark proteins that should be degraded by the cell.

AGIL-AS uses a harmless virus called adeno-associated virus or AAV as a vector to deliver the correct form of the UBE3A gene to specific CNS cells with the aim of restoring production of the E6-AP protein, improving cell function and rescuing neurological deficits in patients with this disease.

Preclinical studies

Studies in AS mouse models showed that direcly injecting an AAV vector carrying the UBE3A gene into the brain restored local UBE3A gene expression, increased levels of E6-AP and improved the cognitive deficits associated with AS. Specifically, mice given AGIL-AS significantly improved associative learning compared to the control AS mice, suggesting that such a therapeutic intervention may also be possible in AS patients. However, more research is needed before AGIL-AS can be tested in human clinical trials and developed into a potential AS drug.

Other information

In 2015, Agilis entered into an exclusive worldwide license agreement with the University of South Florida to develop the gene therapy approach to treat AS. The same year, the U.S. Food and Drug Administration granted AGIL-AS orphan drug designation for the treatment of AS. In May 2016, the European Commission also granted AGIL-AS orphan medicinal product status.


Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.