Gene therapy for inherited retinal diseases

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• Inherited retinal diseases (IRDs) cause significant visual impairment due to over 260 identified causative mutations.
• Previously considered incurable, IRDs are now targets for gene supplementation therapy.
• The FDA approval of voretigene neparvovec for Leber's congenital amaurosis (LCA) has accelerated gene therapy development for IRDs.

Purpose of the Study:

• To provide an update on completed, ongoing, and planned clinical trials for IRDs using gene supplementation.
• To highlight the therapeutic potential of gene replacement strategies for various monogenic IRDs.

Main Methods:

• Gene supplementation therapy involves replacing disease-causing genes with functional copies.
• Gene therapies are delivered to retinal cells via subretinal (SR) or intravitreal (IVT) injections.
• Development and clinical testing of targeted genetic therapies for specific IRDs.

Main Results:

• Over 260 causative mutations for IRDs have been identified.
• Gene therapy aims to slow disease progression and potentially restore visual function.
• Numerous clinical trials are underway for IRDs such as retinitis pigmentosa, choroideremia, and Usher syndrome.

Conclusions:

• Gene supplementation therapy represents a promising treatment approach for IRDs.
• Continued discovery of mutations and ongoing clinical trials are expanding gene therapy options.
• Retinal gene therapy holds significant potential for treating previously untreatable blinding conditions.