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Study shows possible genetic link to persistent retinal fluid in AMD
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MIAMI — Persistent retinal fluid in eyes that have been treated with anti-VEGFs for neovascular age-related macular degeneration may have a genetic basis, a speaker told colleagues here.
“Here we are, basically 10 years after anti-VEGF was introduced, and we’re seeing where the unmet needs are. Only 30%, a third of patients, who are treated gain three lines of vision. That would have been amazing 10 years ago, but we want more. About a third of patients also have persistent fluid after 1 year of treatment,” Philip J. Rosenfeld, MD, PhD, said at Angiogenesis, Exudation, and Degeneration 2016.
Rosenfeld and colleagues culled data from the VIEW 1 trial, which evaluated the efficacy and safety of Eylea (aflibercept, Regeneron) compared with Lucentis (ranibizumab, Genentech) in the treatment of neovascular AMD.
Rosenfeld and colleagues analyzed blood samples from 323 patients, conducted a genome-wide association study and coded genetic variants for each single nucleotide polymorphism (SNP).
“We just focused on the anatomic response because that was the result that was most intriguing,” Rosenfeld said.
SNPs on the X chromosome showed the highest suggestive genetic association with the presence of retinal fluid at 52 weeks, Rosenfeld said.
More specifically, Rosenfeld and colleagues identified a novel genetic variant in the protein kinase X-linked (PRKX) gene, which is involved in angiogenesis through stimulation of endothelial cell proliferation, migration and vascular-like structure formation.
“There was this one SNP that stood out above the suggestive significance level,” Rosenfeld said. “There’s a clustering of SNPs around this thing that are also very suggestive of significance.”
The novel genetic variant in the PRKX gene was associated with a reduced likelihood of macular fluid being present at week 52 in the VIEW 1 trial.
“That not only was true for this SNP but all the SNPs in this cluster, so this suggests that something significant has been identified,” Rosenfeld said. “Now I think it’s important to reach out to all of the other studies that have genetic populations that have been identified, CATT, IVAN, all the other studies. Let’s see if this can be reproduced.” – by Matt Hasson and Kristie L. Kahl
Disclosure: Rosenfeld reports he is a consultant for Regeneron.