Natural History Study Launches for LCA Caused by Specific Mutation in CEP290
The natural history study will be used to characterize the range of visual function in patients, to evaluate which visual tests may be the most useful for patients with this condition, and to determine the rate of change in visual function over a one-year period.
Massachusetts Eye and Ear (MEE) is participating in a natural history study for people with Leber congenital amaurosis (LCA) type 10 caused by a mutation referred to as "c.2991+1655A>G" in intron 26 of the CEP290 gene.
Approximately 40 patients, 3 years of age and older, will be enrolled in the study taking place at MEE. Additional sites are planned in the U.S. and Europe. Patients will be evaluated multiple times over a one-year period.
The purpose of the natural history study is to better understand and describe the clinical course of LCA10-related retinal degeneration that is associated with this particular mutation in the CEP290 gene. The natural history study will be used to characterize the range of visual function in patients, to evaluate which visual tests may be the most useful for patients with this condition, and to determine the rate of change in visual function over a one-year period. Eric Pierce, MD, PhD, is the study's lead investigator at MEE. He is the director of the Ocular Genomics Institute and the FFB Berman-Gund Laboratory for the Study of Retinal Degenerations at MEE.
The study is sponsored by Editas Medicine, which is developing an experimental medicine based on CRISPR/Cas9 gene-editing technology to excise this mutation in the CEP290 gene. 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 Medicine aims to file an investigational new drug application (known as an "IND") by mid-2018 with the U.S. Food and Drug Administration to initiate a clinical trial of its lead experimental medicine for this condition. Knowledge gained from the natural history study may be used to optimize the design and recruitment strategy for the interventional trial.
Editas Medicine is also researching treatments for other genetic and infectious diseases of the eye, including approaches to Usher syndrome type 2A and Herpes Simplex Virus-1.
Details of the LCA10 natural history study can be found at clinicaltrials.gov Identifier: NCT03396042 . To learn more about the study or to refer patients, please send an e-mail to firstname.lastname@example.org or call 1-866-872-2349.