Ophthotech Obtains Exclusive Option for Best Disease Gene Therapy in Development at University of Pennsylvania and University of Florida

November 08, 2018

COLUMBIA, Maryland – Nov. 8, 2018 – Ophthotech Corporation, a biopharmaceutical company focused on the development of therapies for orphan retinal diseases and age-related macular degeneration, has entered into an exclusive option agreement to obtain rights to negotiate the acquisition of a Best disease gene therapy (BEST1 mutations) under development at the University of Pennsylvania and University of Florida. In addition, Ophthotech will sponsor preclinical and natural history studies of Best disease. The company expects to submit an investigational new drug application (IND) for the gene therapy to the U.S. Food and Drug Administration (FDA) in 2021. The FDA’s authorization of the IND will enable the company to launch a clinical trial.

The Foundation Fighting Blindness invested $1.8 million over the last decade in lab studies for the gene therapy at the University of Pennsylvania that reversed Best disease in canine models. The therapeutic effect of the treatment has been sustained for as long as five years and was published in the journal Proceedings of the National Academy of Sciences in February 2018. 

“We are delighted to see the Foundation’s sustained, early investment in Best disease research lead to commercial development of a promising gene therapy,” says Benjamin Yerxa, PhD, chief executive officer at the Foundation Fighting Blindness. “This is consistent with our strategy of getting research to the point where we can attract outside commercial investment. The FDA’s approval of LUXTURNA™ (Spark Therapeutics), the first approved gene therapy for the eye, and many other emerging retinal gene therapies in clinical trials, were made possible by the Foundation’s strategic investments.” 

Best disease is a vision-robbing form of inherited macular degeneration, often leading to severe central vision loss. Lesions comprised of waste material accumulate in a layer of support cells known as the retinal pigment epithelium (RPE) and underneath the retinas of humans and dogs with Best disease. The condition also causes microdetachments between the RPE and photoreceptors. The separation leads to loss of photoreceptors, the cells that make vision possible.

The research team at the University of Pennsylvania observed that the gene therapy eliminated lesions and microdetachments in dogs with Best disease, including those with early and late-stage disease. The project was led by Karina Guziewicz, Ph.D., at the University of Pennsylvania School of Veterinary Medicine (Penn Vet).

“Penn Vet’s gene therapy research for Best disease has been elegant and groundbreaking. They were the first research team to identify the microdetachment’s key role in photoreceptor death and vision loss,” says Stephen Rose, PhD, chief scientific officer at the Foundation Fighting Blindness. “Their outstanding work positions the treatment well for translation into humans.”

Other members of the Best disease research team included: Gustavo Aguirre, V.M.D., Ph.D.; William Beltran, V.M.D., Ph.D.; Samuel Jacobson, M.D., Ph.D.; Artur Cideciyan, Ph.D.; Malgorzata Swider, Ph.D.; Alexander Sumaroka, Ph.D.; Vince A. Chiodo; William W. Hauswirth, Ph.D.; and Elise Héon, M.D.


The Foundation Fighting Blindness was established in 1971. It has since raised more than $725 million for research aimed at preventing, treating and curing blindness caused by retinal degenerative diseases. In excess of 10 million Americans, and millions more worldwide, have experienced or are at risk of experiencing vision loss due to retinal degeneration. Through its support of focused and innovative science, the Foundation drives the research that has and will continue to improve the lives of people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and other inherited retinal diseases. Learn more at www.blindness.org.