Oct 18, 2018

FFB Congratulates RPE65 Gene Therapy Researchers for Champalimaud Award

Foundation News

More than two decades ago, the Foundation Fighting Blindness (FFB) began funding RPE65 gene therapy research that led in late 2017 to LUXTURNA™, the first FDA-approved gene therapy for the eye or an inherited condition. Ultimately, the Foundation provided more than $10 million in funding for the groundbreaking effort.

On September 4, 2018, seven researchers, including six previously funded by the Foundation, were recognized with the prestigious 2018 Antonio Champalimaud Vision Award for their contributions to the advancement of blindness-reversing RPE65 gene therapies. The investigators received a prize of one million euros ($1.15 million).

Mutations in the RPE65 gene cause Leber congenital amaurosis and retinitis pigmentosa, both of which lead to devastating, progressive vision loss.

The awardees included:

  • Jean Bennett, MD, PhD, Scheie Eye Institute, University of Pennsylvania School of Medicine, and Albert M. Maguire, MD, Children’s Hospital of Philadelphia. Their RPE65 gene-therapy research and human studies led to the development of LUXTURNA™.
  • Robin Ali, PhD, and James Bainbridge,MD, PhD, Institute of Ophthalmology of the University College London and Moorfields Eye Hospital, who led an RPE65 gene therapy clinical trial.
  • Samuel G. Jacobson, MD, PhD, Scheie Eye Institute, University of Pennsylvania School of Medicine, and William W. Hauswirth, PhD, University of Florida College of Medicine, who conducted extensive RPE65 gene therapy research and development, and ultimately, a clinical study.
  • Michael Redmond, PhD, National Eye Institute, who identified the role of the RPE65 gene in vitamin A processing in the retina.

“We congratulate the Champalimaud Award recipients for their groundbreaking advancements in gene therapy research, and the impact their breakthroughs in retinal-disease gene-therapy development,” says Stephen Rose, PhD, FFB’s chief scientific officer. “Thanks in part to their success, people with LCA or RP caused by biallelic mutations in the RPE65 gene could be eligible to receive this FDA-approved vision-restoring treatment. In addition, this advancement has led the way for development of many more retinal gene therapies. There are now approximately 20 clinical trials underway for retinal gene therapies including those for Stargardt disease, Usher syndrome, and retinitis pigmentosa.”

The António Champalimaud Vision Award is given alternately between contributions to overall vision research (even-numbered years) and contributions to the alleviation of visual problems, primarily in developing countries (odd-numbered years).