Clinical gene therapy for the treatment of RPE65-associated Leber congenital amaurosis.


INTRODUCTION The positive results of pioneering clinical trials using gene therapy as treatment for patients with Leber congenital amaurosis (LCA) have ushered in a new era of molecular retinal therapeutics for LCA, other blinding retinal disorders and gene therapy applications. AREAS COVERED This review describes the role of retinal pigment epithelium-specific 65 kDa protein (RPE65) in the visual cycle and how RPE65 deficiency results in LCA; the extensive preclinical studies with recombinant adeno-associated virus (rAAV)-RPE65 gene vectors; and the human rAAV-RPE65 and related gene therapy clinical trials and studies. The literature search included a review of primary sources (e.g., journal articles) that reported study data results and key secondary sources such as meta-reviews available through PubMed, as well as reviews of clinical trial descriptions and results as reported in, conference publications and news releases. EXPERT OPINION LCA-RPE65 gene therapy is an example of successful, innovative, translational research. Further research is needed regarding how retinal gene therapy can be improved.

DOI: 10.1517/14712598.2011.557358
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@article{Stein2011ClinicalGT, title={Clinical gene therapy for the treatment of RPE65-associated Leber congenital amaurosis.}, author={Linda Stein and Kamolika Roy and Lei Lei and Shalesh Kaushal}, journal={Expert opinion on biological therapy}, year={2011}, volume={11 3}, pages={429-39} }