Canadian Researchers Begin Clinical Trial for Choroideremia Gene Therapy

July 01, 2015

The University of Alberta in Canada has become the third organization to launch a gene-therapy clinical trial for people with choroideremia, a vision-robbing retinal condition affecting more than 12,500 males in the United States and Europe. The six-patient study is the first ocular gene-therapy clinical trial in Canada. It will focus on safety, but researchers will also evaluate changes in vision and retinal structure. The investigators are enrolling patients by invitation only.

“I am delighted for the opportunity to potentially save and restore vision for people with choroideremia,” says Ian MacDonald, M.D., the clinical-research team leader. He is also an ophthalmologist with Alberta Health Services and a professor with the Faculty of Medicine & Dentistry at the University of Alberta, sponsor of the research. “Patients and families,” Dr. MacDonald adds, “have been looking forward to this study for a long time.”

In January 2014, the University of Oxford in the United Kingdom reported vision improvements for five of its first six patients in its choroideremia gene-therapy clinical trial. The biopharmaceutical company NightstaRx is sponsoring the U.K. trial and also providing the gene therapy for the Canadian study. In addition, the University of Alberta gene-therapy surgeons went to the University of Oxford for training.

“The collaborations with NightstaRx and the University of Oxford are invaluable to our effort,” says Dr. MacDonald. “Their help and resources better position us for success.”

In January 2015, Spark Therapeutics, a late-stage, gene-therapy development company in Philadelphia, announced the launch of its choroideremia gene-therapy clinical trial at The Children’s Hospital of Philadelphia.

“It’s very exciting to see the expansion of clinical trials for choroideremia. Because it’s caused by only one gene, CHM, the treatment has the potential to help most people who are affected,” says Stephen Rose, Ph.D., the Foundation Fighting Blindness’ chief research officer. “Furthermore, because it’s a severe disease, there is the opportunity to save significant vision.”

The Foundation provided funding over two decades for lab studies that helped make the choroideremia gene-therapy clinical trials possible. Much of that support went to Miguel Seabra, Ph.D., who played a lead role in advancing choroideremia research.