Rare Disease Report

Lead Researcher on Luxturna Studies Explains Excitement as Drug Awaits Approval

NOVEMBER 14, 2017
Mathew Shanley
Stephen M. Russell, PhDYesterday, Rare Disease Report covered the presentation of new data at AAO 2017, the 121st Annual Meeting of the American Academy of Ophthalmology , from studies sponsored by Spark Therapeutic that evaluated the safety and efficacy of Luxturna (voretigene neparvovec) in patients with vision loss caused by Leber congenital amauosis (LCA) and a mutation in the RPE65 gene.

This morning, RDR sat down with ophthalmologist Stephen R. Russell, M.D. of the University of Iowa, one of the lead researchers on the study, who will be presenting the data this afternoon. It’s important, he mentioned, to remember that while 3-year data is important for demonstrating the durability and effect of the drug, the durability curve at 3 years for patients who have received Luxturna looks almost identical to the 1- and 2-year time points.

In our interview, Russell discussed the excitement surrounding Luxturna, and why patients are so justifiably ready for its expected January approval.

RDR: Because Luxturna has been so well-received by the U.S. Food and Drug Administration (FDA), and it is so highly anticipated by the patient population, can you see it being approved before its PDUFA (Prescription Drug User Fee Act) date in January?

Russell: I’ve never heard of any drug being approved before it’s PDUFA data, but I guess it could happen. I was at the FDA Advisory Committee meeting, and the likelihood that they’d go against a unanimous decision is close, I would say, to zero. Most of what I’ve read suggests that’s true, as well. I don’t think there’s any likelihood, from an approval standpoint, that any further data that could be presented is relevant, other than just to prove that the drug is potentially longer-term than was initially believed.

RDR: What have you seen in terms of anticipation for the approval from the patient population?

Russell: Just to give you some idea, several of the patients that came to the FDA Advisory Committee meeting paid their own ways to come to emphasize that they were committed to helping other people who had the condition. Spark Therapeutics offered to help anybody who was involved in the study and wanted to come, but several said, “No. We want to come because we want to come, and because we think it’s important that we’re there.” I’ve never heard of that kind of commitment, but the communities of these blind children are very persistent. They’ve endured a lot in terms of the deterioration of their sight, but also of their hope over the years.

RDR: Why do you think the excitement level for the potential approval is so high?

Russell: When one group has this kind of a success, it’s easy for them to choose to go out and campaign to help others like them, whether they know them or don’t know them, because they want everyone to have access to the therapy. Of course, there are also a lot of other people interested in the potential approval who don’t have the RPE65-associated LCA, simply because it represents a relaxing of the FDA approval process, and it could make it easier for other disease therapies to get approved when there is appropriate data. There is a tremendous groundswell of support, not only from this patient population, but also from others that have various other forms of various LCA and retinal diseases.

RDR: What particularly excites you the most about Luxturna as a potential therapeutic option for LCA?

Russell: The one thing that I always caution people about is that this is the ideal prototype for intervening in an inherited disease, in that there’s a potential in this particular disease that the therapy improves vision function, whereas in most inherited diseases – certainly in inherited retinal diseases – the more likely option is to stabilize or prevent further vision loss. I think what’s remarkable about the studies that have been conducted to evaluate Luxturna is how much improvement we saw, rather than a stoppage of deterioration.


In October, after the FDA’s Cellular, Tissue and Gene Therapies Advisory Committee voted 16-0 in favor of Luxturna, Rare Disease Report sat down with Stephen M. Rose, Ph.D., Chief Research Officer for the Foundation Fighting Blindness.

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