UX701: Gene Therapy for the Potential Treatment of Wilson Disease

Wilson Disease: Inability to maintain normal copper levels leads to neurologic signs and symptoms and liver disease

Wilson disease is a disorder of copper metabolism caused by mutations in the gene, ATP7B. ATP7B produces a copper-transporter that controls the normal trafficking of copper in the body. Patients with Wilson disease accumulate copper in the liver causing neurologic signs and symptoms and liver disease that can progress to liver failure. 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 our territories are affected by Wilson disease.

Evaluating UX701 to properly metabolize copper 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. Ultragenyx has initiated the seamless  Cyprus2+ Phase 1/2/3 study of a single intravenous infusion of UX701 in Wilson disease. UX701 leverages Ultragenyx’s Pinnacle PCL™ Platform.

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