Gene Therapy for Leber Congenital Amaurosis (RPE65 Mutations): The Children's Hospital of Philadelphia


Description: This Foundation-funded Phase I clinical trial is evaluating the safety of gene replacement therapy for people with Leber congenital amaurosis (LCA) caused by mutations in the gene RPE65. Efficacy is being evaluated, as well. Initially, 12 participants (children and young adults) received a single subretinal injection of the treatment in one eye. The treatment consists of a corrective RPE65 gene, which iss delivered to photoreceptors in the retina by an adeno-associated virus (AAV), a therapeutic man-made virus. The treatment has restored significant vision for some participants (see articles below).

Trial Status: Ongoing; treating second eye of original trial participants.


New Study Paves Way for Treating Second Eye in Gene Therapy Clinical Trial

Now They See - Breaking News from the Foundation Fighting Blindness


A Visionary Breakthrough

CBS News: Gene Therapy Restores Some Vision to Boy with LCA

Good Morning America: A Cure for Blindness?

Additional Information:

CHOP gene therapy trial listing on