Natural History Study Launches for LCA Caused by Specific Mutation in CEP290

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The Massachusetts Eye and Ear Infirmary (MEEI) and other centers in the US and Europe are conducting a natural history study for people with Leber congenital amaurosis 10 (LCA10) caused by a mutation referred to as “intron 26 c.2991+1655A>G” in the CEP290 gene.

Approximately 40 patients, 3 years of age and older, will be enrolled in the study taking place at MEEI and other sites, yet to be announced, in the U.S. and Europe. Patients will be evaluated four times over a one-year period.
The goal of the natural history study is to better understand the progression of vision loss and retinal changes in people with this specific mutation in CEP290.
Eric Pierce, MD, PhD, is the study’s lead investigator. He is the director of the Ocular Genomics Institute and the FFB-supported Berman-Gund Laboratory for the Study of Retinal Degenerations at MEEI.
The study is sponsored by the gene-editing company Editas, which is developing a treatment based on CRISPR/Cas9 gene-editing technology for the specific mutation in CEP290. Visit the Eye on the Cure CRISPR/Cas9 blog post to learn more about how the technology works and its applicability to treating inherited retinal diseases.
Editas will be seeking authorization in mid-2018 from the U.S. Food and Drug Administration to launch a clinical trial of its emerging therapy. Knowledge gained from the natural history study will help Editas design the clinical trial and recruit patients for it.
Editas is also developing a CRISPR/Cas9 treatment for Usher syndrome type 2A caused by mutations in exon 13 of the USH2A gene in collaboration with Drs. Qin Liu and Pierce at MEEI.