Laura Steinbusch has a son, 5-year-old Enzo, who has been diagnosed with Leber congenital amaurosis 10, or LCA10. It has made Laura a patient advocate for this disease, and in this interview she explains how the diagnosis has changed her life.
During a ProQR Expert Perspective call Dr. Girach (CMO at ProQR) discusses findings from an open label extension study of sepofarsen for LCA10 with Retinal Disease expert Dr. MacDonald (Prof Emer University of Alberta).
When watching Cristian, Silvia and Edoardo (age 6) and Beatrice (age 2) they look like the ideal, happy family. When asked, the parents insist they are, in many ways. The fact that Beatrice has Leber congenital amaurosis, doesn't change that.
2017 may become a very exciting year for Patricia Biasutto, sepofarsen captain. Her work, developing a novel RNA therapy for Leber congenital amaurosis 10, has progressed steadily. The team expects to start a first clinical trial this year.