Science is advancing
Today, there is an FDA- and EMA-approved gene therapy for an inherited retinal disease caused by biallelic variants in the RPE65 gene.1-3 Over 30 clinical trials are either completed or underway for different types of inherited retinal diseases, such as retinitis pigmentosa, X-linked retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), achromatopsia (ACHM), Usher syndrome, and Stargardt disease.4
These trials explore the potential of gene therapy and several other technologies. The rise of innovative gene therapy and therapeutic interventions potentially marks the beginning of a new era in inherited retinal disease care.5
Evolution of genetic testing
To date, more than 270 genes related to inherited retinal diseases have been identified6,7
RetNet, The Retinal Information Network, https://sph.uth.edu/retnet. Accessed September 2021, reproduced with permission, Stephen P. Daiger, PhD, and the Foundation Fighting Blindness. Text and format changes added by Janssen, Inc., with permission.
As science continues to advance uncovering more genes related to inherited retinal diseases, genetic testing technology also continues to evolve. In the past 10 years, approximately 100 new genes related to inherited retinal diseases have been discovered.6 Innovations in genetic testing empower you to more precisely confirm your patient’s diagnosis.
Over 30 clinical trials are either completed or underway3,4,8-11
More than 30 active clinical trials for inherited retinal diseases
US FDA approves first gene therapy for an inherited retinal disease*
Gene therapy for achromatopsia (ACHM) starts
Gene therapy trial for Usher syndrome starts
Gene therapy trials for retinitis pigmentosa (RP) and choroiderma (CHM) start
Gene therapy trials for Leber congenital amaurosis (LCA) start
First gene therapy applications in humans
*Indicated for the treatment of patients with confirmed biallelic RPE65 mutation-associated retinal dystrophy.
Breakthrough science in eye care
Novel gene therapy trials are underway for a wide range of inherited retinal diseases, and more are on the horizon. Retinal specialists may soon have effective treatment options in their armamentarium.1 There are several approaches to gene therapies under investigation, such as:
Gene replacement therapy, also known as augmentation therapy, works by inserting normal copies of the mutated gene into the host cells5
Gene editing corrects the gene variant directly within the host DNA12
RNA editing edits the RNA, not the DNA. This enables the editing of pathogenic variants at a transcript level12