First Clinical Trial in US for Rare Eye Disease in Planning Stages

Source: Choroideremia Research Foundation

Jean Bennett, MD, PhD, of the University of Pennsylvania announced plans to develop a gene therapy to halt vision loss caused by Choroideremia, a rare, inherited, retinal degenerative disease that causes blindness almost exclusively in men and for which there currently is no cure, according to a news release.

The clinical trial that Dr. Bennett announced is in the planning stages and would be the first of its kind in the U.S. The research could begin as soon as September, and the results could ultimately have an impact on treatments for macular degeneration, glaucoma, diabetic retinopathy, and other retinal diseases that affect a wide swath of humanity.

Dr. Bennett made the announcement at the Choroideremia Research Foundation's (CRF) annual conference and symposium in Denver. The four-day meeting brings together people affected by the disease with top researchers and practitioners to discuss treatment and advancements in science.

“The gradual sight loss that Choroideremia causes can be psychologically devastating,” Dr. Bennett said. “If this trial leads to a treatment for Choroideremia, it may be possible to prevent children who are diagnosed with the condition from ever suffering the symptoms.”

Dr. Bennett's proposed trial will complement the work of Oxford University scientists whose similar research launched in 2011 has had promising preliminary results. Canadian researcher Ian MacDonald of the University of Alberta also plans to begin a Choroideremia clinical trial later this year.

CRF is a nonprofit organization dedicated to raising funds to find a treatment or cure for Choroideremia. It held its first conference in 2000, and the gathering now attracts leading researchers from the U.S., Canada, Finland, Germany, England, France and elsewhere. More information is available at www.curechm.org.

The proposed clinical trial is the latest victory in CRF's long-running efforts to find a cure or treatment for Choroideremia. To date the foundation has contributed more than $1.3 million to research on the condition. It has a wide-ranging portfolio of the studies it has supported, including skin-stem cell experiments, research on pharmaceutical therapies, and work in other cutting-edge areas of science.

“This clinical trial means hope – a restoration of dreams, possibilities and a bright future,” said CRF 1st Vice President Beth Foss, whose father and sons have Choroideremia. “When we began CRF in 2000, we knew we had to pool our resources and partner with bold researchers to find a cure. We're proud of the progress we've made.”

Should it be approved, Dr. Bennett's clinical trial will take place at The Children's Hospital of Philadelphia and will be sponsored by Spark Therapeutics. It will likely involve nine patients, who will each receive an intraocular injection of a gene encoding a protein that their eyes should generate but don't. Ideally, these injections will stop the deterioration of the patients' sight.

Dr. Bennett is an expert in molecular genetics, working to find treatments of inherited retinal degenerations. She also focuses on retinitis pigmentosa and age-related macular degeneration.

More details of her research will be available at https://www.med.upenn.edu/carot.

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