The first gene-augmentation therapy for an IRD was approved by the U.S. Food and Drug Administration (FDA) in December 2017 after nearly two decades of development in preclinical models and clinical trials. The drug, known as Luxturna®, is for individuals with autosomal recessive retinal dystrophies resulting from mutations in the gene RPE65.
Genetic testing and clinical testing are needed before treatment to confirm that individuals are eligible. Luxturna® is available at a limited number of centers in the United States, including Mass Eye and Ear as well as a steadily increasing number of locations internationally.
Access to Clinical Trials
An expanding number of genetic therapies for IRDs are currently being tested in clinical trials including many that are ongoing at Mass Eye and Ear and at Boston Children's Hospital. Many of these trials are still in early first-in-human phase 1 and 2 stages in which establishing safety is the primary goal, although efficacy is always being considered as well. A few studies have proceeded to phase 3 trials that enroll a larger number of patients. Most of the trials currently underway are using gene augmentation approaches, but a trial at Mass Eye and Ear and other sites is assessing CRISPR/Cas9 genome editing. A smaller number of trials are also assessing antisense oligonucleotides.
A first step for individuals with IRDs who are interested in their eligibility for clinical trials of gene-specific therapies is establishing a genetic diagnosis. For individuals with mutations in genes that are currently being assessed in clinical trials, clinical evaluation is also needed to assess whether other aspects of eligibility are met.