New Gene Therapy Treatment for Retinitis Pigmentosa

Nova Southeastern University, Davie, Florida, USA

Objective: This study was conducted to educate health care professionals on Luxturna (Voretigene neparvovec), a novel FDA approved gene therapy for retinitis pigmentosa, and on identifying and testing procedure for potential candidates for the gene therapy. Background: The most common hereditary condition that leads to low vision is Retinitis Pigmentosa (RP). Low vision patients have a significantly decreased quality of life and ability to perform daily life activities. Low vision is the leading cause of disability in the U.S. that affects 3.8 million people. On December 19, 2017, FDA approved Luxturna (Voretigene neparvovec), a new gene therapy intraocular injection, developed by Spark Therapeutics and Children's Hospital, Philadelphia . Luxturna is indicated for treatment of retinal dystrophy due to biallelic mutation of gene coding for RPE65 (retinal pigment epithelial 65kDa protein). Methods: For this study, we reviewed FDA Luxturna Clinical Memorandum and Luxturna Phase 1, 2, and 3 clinical trials that will be discussed. We followed with Spark Therapeutic representative on procedure for testing candidates for treatment and obtained Spark Therapeutics testing kits. We discuss Luxturna indications, mechanism of action, dosing and administration, safety and adverse effects, clinical trials, testing kits, patient testing procedure, patient selection criteria, and patient and provider resources. Conclusion: Luxturna is a novel FDA approved gene therapy for retinitis pigmentosa. Health care professionals should be familiar with testing procedure, candidate identification, and pharmacology of Luxturna (Voretigene neparvovec).