Text Gene TherapyLeber congenital amaurosis (LCA), a rare eye disorder may be associated to a form of RPGRIP1 that triggers degeneration of photoreceptors in the eye. Researchers believe that a human gene can be replaced to maintain photoreceptor function in a mouse model affected with this condition. For imparting long-term therapeutic benefit, gene therapy seems to be beneficial due to easy accessibility of the eye and the relation between certain genetic defects and ocular disorders.

Scientists supposedly delivered the human gene for RGPR-interacting protein-1 to mice suffering from LCA. The gene was apparently bundled up in an adeno-associated virus (AAV) vector. It was then injected to under the retinas of the affected mice. It was revealed that expression of the human gene was displayed in photoreceptors along with accurate localization to the cilia. Mice treated by the experts seemingly showed improvement in function and survival of photoreceptors in the eyes.

“The successful correction of this photoreceptor defect in a relevant mouse model of LCA should usher in a new wave of translational research in retinal degeneration syndromes,” shared James M. Wilson, MD, PhD, Editor-in-Chief of Human Gene Therapy, and Head of the Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, in Philadelphia.

Investigators conclude that a gene therapy design has the potential of serving as the basis for a future clinical trial in patients affected by this form of LCA. Also the benefits of employing recombinant AAV vectors for gene therapy while treating ocular diseases was examined by the researchers. Having achieved success in three early-stage clinical trials of LCA, the scientists assume it to be a safe, effective, and long-term treatment for LCA. It has been affirmed that rAAV-mediated gene therapy is the most suitable gene therapy treatment approach for ocular diseases.

The research is published in the current issue of Human Gene Therapy, a journal by Mary Ann Liebert, Inc.