Six Emerging Retinal Therapies Receive $3.1 Million in Foundation Funding

March 26, 2013
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As part of its Translational Research Acceleration Program (TRAP), the Foundation recently invested $3.1 million in six emerging treatments, including those using stem cells, gene therapies and pharmaceuticals.

One is a drug that works like a patch to cover up the genetic defect causing vision-robbing retinal diseases. It has the potential to save vision in about 20 percent of people affected by various conditions, including Usher syndrome, retinitis pigmentosa and Stargardt disease.

“These are truly cutting-edge research initiatives with impressive vision-saving potential,” Dr. Stephen Rose, the Foundation’s chief research officer, says of the six projects. “The investigators are not only thinking outside the box; they’re working collaboratively to enhance their opportunities for success.”

TRAP was established in 2008 to advance promising research toward clinical trials, which involve human participants. The projects receiving new TRAP funding were selected from more than 30 applications submitted by retinal researchers from around the world. Ultimately, the applications with the best therapeutic potential in humans were chosen. These projects include:

Gene Correction for Antisense Mutations — Genes provide instructions for building proteins, which are critical to the health and functioning of the cell. If the cell can’t “read,” or interpret, the entire gene, it can’t produce the correct protein, which leads to retinal degeneration and vision loss. Approximately 20 percent of all retinal diseases are the result of a defect that causes a cell to prematurely stop reading a retina-related gene. Drs. Jennifer Lentz, of Louisiana State University, and Michelle Hastings, of Rosalind Franklin University, are developing a genetic patch to enable the cell to read through these defects for people with Usher 1C. However, this technology could be used to treat any retinal disease caused by this type of mutation.

Multi-Layered Cell Replacement Therapy — Many retinal diseases – including Stargardt disease, dry age-related macular degeneration and choroideremia – lead to loss of photoreceptors and a supportive layer of cells called retinal pigment epithelium (RPE). Dr. David Gamm, of the University of Wisconsin, is using induced pluripotent stem cells (iPSC) to develop a two-layered cell replacement therapy.

To minimize rejection of this and other treatments, he is also developing lines of iPSC from “super donors,” individuals from across the Unites States whose immune profiles favorably match those of the country’s general population. For these efforts, Dr. Gamm is collaborating with scientists from: the University of California, Santa Barbara; the University of Pennsylvania; Cellular Dynamics International; and the Retina Vitreous Resource Center in Louisville, Kentucky.

Screening Vision-Saving Drugs in Zebrafish — Dr. Jeff Mumm, of Georgia Health Sciences University, is screening libraries of thousands of drugs, some of which are already FDA-approved for other conditions, to see if they might save vision. In the past, this type of high-capacity screening was performed in cell culture. But in this effort, Dr. Mumm is using an animal model, zebrafish, which will give researchers a better sense of the drugs’ vision-saving potential.

Neuroprotection for a Variety of Retinal Diseases — In earlier studies, Dr. Don Zack, of the Wilmer Eye Institute at Johns Hopkins University Hospital, found that the anti-cancer drug sunitinib protected retinal cells from degeneration. He will continue investigation of this compound, as well as related molecules that have a similar protective property known as kinase inhibition. His goal is to identify the optimal neuroprotective kinase inhibitor for evaluation in a clinical trial.

Gene Therapies for Recessive Retinal Diseases — In 2011, Dr. Ed Stone, of the University of Iowa, found that defects in the gene MAK are a common cause of autosomal recessive retinitis pigmentosa (arRP) in people with Ashkenazi (European Jewish) descent. He is now using both induced pluripotent stem cells and animal models to develop and evaluate gene therapies for MAK-associated and other forms of arRP.

Saving Vision with Rod-Derived Cone Viability Factor (RdCVF) — For many years, researchers have known that cones, the retinal cells that provide central and daytime vision, are dependent on rods, the cells that provide peripheral and nighttime vision. Dr. Jose Sahel, of the Institut de la Vision in Paris, France, is continuing to develop a gene therapy that delivers a rod-associated protein known as RdCVF to keep cones alive in people affected by retinal diseases such as retinitis pigmentosa. He is currently optimizing RdCVF for study in humans.


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