FFB Written Articles » Other Retinal Diseases
Foundation Provides Three-Year, $1.5 Million Grant for Choroideremia Gene Therapy
The project will be led by Dr. Bennett, who is also one of the lead investigators on the landmark clinical trial of gene therapy for people with Leber congenital amaurosis (LCA) underway at The Children’s Hospital of Philadelphia (CHOP). That Foundation-funded Phase I/II study, which will be advancing soon into a Phase III trial, has restored some vision in children and young adults who were virtually blind. “What we are learning in the LCA trial is positioning us well to move choroideremia gene therapy into the clinic,” says Dr. Bennett. “We are delighted to have the Foundation’s continued support in gene therapy development. They’ve also funded critical choroideremia lab research for nearly two decades, including Dr. Miguel Seabra’s development of the animal model we’ll be using in our forthcoming study.” The proposed choroideremia therapy will use a virus known as an adeno-associated virus that has been genetically engineered to deliver copies of the corrective gene into the cells of the retina. The gene delivery technology is similar to that used in CHOP’s LCA trial. Choroideremia impacts the choroid, a network of blood vessels underneath the retina that provides critical proteins, blood supply and nutrients to other cells in the retina including photoreceptors and retinal pigment epithelial (RPE) cells. It also appears to impact the photoreceptors and RPE cells directly. As the tissues degenerate, vision is progressively lost. Because virtually all cases of choroideremia are caused by variations in the same gene, CHM, it is likely that only one gene therapy product needs to be developed to treat the affected population. “Choroideremia is a great candidate for gene therapy, because we believe it will be possible to treat most people affected with a single treatment,” says Dr. Stephen Rose, chief research officer, Foundation Fighting Blindness. “From a genetic standpoint, choroideremia is actually one of the more common inherited retinal degenerations.” Choroideremia affects approximately 6,000 males in the U.S. Because the condition is X-linked, females are carriers and usually asymptomatic. Dr. Rose notes that future participants in a choroideremia gene therapy clinical study will need to be genetically tested to confirm their diagnosis, and that now is the time to begin the testing process. For information on genetic testing, visit the Foundation’s Web site, which provides genetic testing resources for individuals and doctors. |
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