Background: Gene therapy for inherited retinal diseases (IRDs) is currently being validated in several clinical trials and is becoming a promising therapeutic option for these previously incurable diseases.
Objectives: The aim of this review is to give an overview of the concept, the application and the challenges associated with gene therapy. In particular, the pertinence of gene therapy for IRDs will be highlighted along with ongoing clinical trials in the field.
Material and methods: A systematic review of relevant entries on gene therapy and on gene therapy for IRDs, in particular in PubMed and ClinicalTrials.gov.
Results: Gene therapy is emerging not only as a therapy for monogenetic retinal diseases but also for complex genetic diseases, such as neovascular age-related macular degeneration. The discovery of adeno-associated viral vectors (AAVs) has marked a great improvement for IRD gene therapy. All clinical studies since 2006 demonstrated the safety and initial efficacy; however, not all expectations based on very successful preclinical studies were met.
Conclusion: In future we can expect gene therapy to continue to become more clinically relevant. More than ever, it is now essential to generate precise characterizations of the natural disease progression of IRDs through observational or retrospective studies in order to guarantee a most effective study design.
Keywords: Adeno-associated virus; Disease progression; Leber's congenital amaurosis; Neovascular age-related macular degeneration; Ophthalmology.