UX701: AAV9 Gene Therapy for Wilson Disease

Wilson Disease: a rare genetic disorder of copper metabolism

Wilson disease is caused by a mutation in the ATP7B gene, which provides instructions for cells to make a protein that carries copper from the liver to other parts of the body and removes copper from tissues and organs. Copper is important for some functions, but excess amounts can be toxic and lead to liver disease and neurologic issues. Wilson disease is fatal if left untreated. Copper chelators are the current standard of care but can result in significant side effects, do not address the underlying cause of the disease, and have high rates of discontinuation. An estimated 50,000 people in the developed world are affected by Wilson disease.

Evaluating UX701 to reduce copper accumulation in tissues and organs

UX701 is an investigational AAV9 gene therapy designed to deliver a modified form of the ATP7B gene, which is otherwise too large to package in an AAV vector. Preclinical studies demonstrated reduced liver copper accumulation, increased ceruloplasmin levels and improved liver pathology following administration of UX701. The U.S. Food and Drug Administration (FDA) cleared the Investigational New Drug (IND) application, and Ultragenyx plans to conduct a seamless single-protocol Phase 1/2/3 study of a single intravenous infusion of UX701 in Wilson disease. UX701 will utilize our HeLa Producer Cell Line (PCL) manufacturing system.

UX701 was granted Orphan Drug Designation in the United States and European Union and Fast Track Designation in the United States.

Learn more about UX701 clinical studies