2018-34: Study to Evaluate the Feasibility and Variability of Select Vision Assessments in Subjects with Leber Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene
Leber’s congenital amaurosis (LCA) is a severe inherited retinal degenerative disease resulting in blindness, often in early childhood. In subjects with LCA due to a specific mutation (CEP290), visual symptoms are usually detectable before 1 year of age and are followed by a progressive loss of remaining vision. In this population there is a large unmet medical need. The present study, which is designed to evaluate the feasibility and variability of several well known visual assessments in subjects with LCA Type 10, will be beneficial to gain insights into the disease state and to evaluate/validate potential efficacy endpoints for use in future clinical studies.