ABSTRACT
Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also result in phenotypes described as severe early childhood onset retinal dystrophy (SECORD) and Retinitis pigmentosa 20 (RP20). Following the publication of the successful Phase-III clinical trials of gene augmentation surgery for RPE65-related IRDs with voretigene neparvovec, the FDA approved the commercial use of this pharmacologic agent in December 2017. In this perspective, ongoing and completed gene therapy trials for RPE65-related dystrophies are reviewed and challenges in patient selection, counseling and informed consent, as well as financial considerations of commercial treatment are discussed.
Declarations of Interest
Miraldi Utz- Retrophin, Inc-S, Spark Therapeutics-C, Springer-P; Coussa – No financial disclosures; Antaki – No financial disclosures; Traboulsi – Spark Therapeutics –C, Sanofi-S, Springer-P, Oxford University Press-P, Taylor & Francis-P.