Experimental treatment for childhood eye disease shows promising results

The first phase of a new treatment designed to improve the sight of those with a rare inherited childhood eye disease has shown promising results, University of Iowa researchers say.

“This is still very preliminary, but if the effects persist and other patients also demonstrate these results this intervention will continue the journey toward FDA evaluation,” says Stephen Russell, MD, the Dina J. Schrage Professor of Ophthalmology at the Institute for Vision Research at the University of Iowa, and senior author of the study, published this week in the journal Nature Medicine.

The study reports the results of a three-site, phase 1 clinical trial of the investigational treatment. Ten patients with Leber congenital amaurosis type 10 (LCA10), a rare inherited blinding eye disease typically diagnosed at or shortly after birth, had one of their eyes injected with an antisense oligonucleotide (AON) designed to restore correct splicing of an important gene product in the retina. The patients were injected every three months at one of three sites: the University of Iowa, University of Pennsylvania, and University of Ghent in the Netherlands.

No severe adverse effects were noted in these patients, and visual function improved on at least one measure in all the patients after the first three months. One patient reported significant improvement after just six weeks and was able to see lights with increased clarity for the first time. En route to the two-month evaluation, this patient reported improvement to formed vision and was able to see lines and well-lit signs. Progress continued throughout the three-month evaluation period.

Russell says the first phase of this study has been promising.

“Most early phase clinical trials are terminated because the drug shows no evidence of effectiveness or is dangerous,” Russell says. “We hoped this intervention would help prevent the progressive vision loss experienced by LCA 10 subjects. What we found is that most – and one in particular – improved.”

Other University of Iowa researchers involved in the study were Arlene Drack, MD, the Ronald Keech associate professor in ophthalmic genetics and director of the pediatric electroretinogram service; Ian Han, MD, assistant professor of ophthalmology and visual sciences; Maria Hochstedtler; Wanda Pfeifer, OC(C), COMT; and Elliott Sohn, MD, associate professor of ophthalmology and visual sciences.

The work was supported by clinical trial contracts from ProQR Therapeutics to site principal investigators.