Gene therapy for choroideremia: progress, potential and pitfalls.

Introduction: Choroideremia is a rare disease with a significant disease burden. Gene-supplementation methods for choroideremia gene therapy have been the most successful form of gene therapy thus far.

Areas covered: The aim of the current review is to provide an overview of current progress of gene therapy trials to date, with a focus on potential and pitfalls of such trials. We propose a novel end point that may be clinically meaningful for obtaining regulatory approval in subsequent clinical trials. Additionally, we offer recommendations for further optimization of surgical techniques.

Expert opinion: Lessons learnt from this phase 3 clinical trial, encompassing optimal vector design, delivery techniques, patient selection criteria, and long-term safety profiles can be used in the development of treatments for polygenic retinal disorders, which may necessitate a more nuanced approach due to genetic complexity.