Audentes Therapeutics, Inc., a biotechnology company focused on developing and commercialising gene therapy products for patients suffering from serious, life-threatening rare diseases, announced a collaboration with the Orphan Disease Center at the Perelman School of Medicine at the University of Pennsylvania (Penn) to develop AT342, an AAV gene therapy for Crigler-Najjar syndrome, a rare, inherited, metabolic liver disease.

In addition, Audentes has expanded its existing partnership with REGENXBIO to include an exclusive worldwide license for the treatment of Crigler-Najjar using REGENXBIO’s NAV AAV8 vector. This programme was initiated at Penn under the leadership of James M. Wilson, M.D., Ph.D., a pioneer in human gene therapy and the director of the Gene Therapy Program and the Orphan Disease Center at Penn. Audentes plans to file an IND for AT342 in 2016 and expects preliminary data from a phase 1/2 clinical trial to be available in 2017.

Crigler-Najjar is a rare, autosomal recessive, monogenic disease caused by mutations in the gene encoding the UGT1A1 enzyme, which converts circulating bilirubin to a form that can be excreted by the body. The disease is present from birth and characterized by severely high levels of bilirubin in the blood that can cause irreversible neurological damage. Current standard of care is aggressive management of the elevated bilirubin, with phototherapy for at least 12 hours per day. In addition, acute measures, such as emergency plasma exchange, are sometimes required to avoid catastrophic, irreversible neurological consequences or death. Liver transplantation is typically required for survival into adulthood.

“We are excited to be working with our partners at Audentes and REGENXBIO to advance AAV therapy for Crigler-Najjar,” said Dr. Wilson, also a professor of medicine at Penn. “We share a common belief that Crigler-Najjar is a disease for which AAV gene therapy can provide a transformative new treatment for patients.”

“We are pleased to collaborate with Dr. Wilson and the Orphan Disease Center at the Perelman School of Medicine to advance AT342 into the clinic for Crigler-Najjar and to expand our collaboration with REGENXBIO,” said Matthew Patterson, President and CEO of Audentes. “These partnerships align strongly with our strategy of developing AAV gene therapies for serious, rare diseases that have compelling pre-clinical proof-of-concept data and the potential for accelerated clinical development. We are hopeful that our work will result in a future treatment for patients suffering from this devastating disease.”

Dr. Wilson holds equity in REGENXBIO and Penn has licensed AAV technology to REGENXBIO.