Leber’s Congenital Amaurosis Type 2 (LCA2)

LCA2 is a rare form of inherited blindness that is symptomatic starting in infancy.  In 2001, our team demonstrated the efficacy of gene therapy in a dog model of LCA21.  Subsequently, we joined forces with CHOP, and brought the preclinical research into the clinical realm. Our team was the first to receive approval to conduct a gene therapy trial in pediatric subjects with a non-lethal disease.  This paved the way for other groups to include children as well. The strategic alliance between our group and CHOP proved to be highly effective; the trial successfully and safely improved vision of most trial subjects2,3. The results were particularly impressive in the child participants who, before intervention, could not navigate independently or participate in normal classroom activities, but whose lives were transformed after intervention. We are currently working with Spark Therapeutics, LLC in the completion of the phase 3 study, and translating the program into a market product.


  1. Acland et al 2001
  2. Maguire et al
  3. Bennett et al