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

Abstract

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 clinicaltrials.gov, 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.

• Authors: Linda Stein, Kamolika Roy, Lei Lei, Shalesh Kaushal
• Journal: Expert opinion on biological therapy (Expert Opin Biol Ther) Vol. 11 Issue 3 Pg. 429-39 (Mar 2011) ISSN: 1744-7682 [Electronic] England
• PMID: 21299439 (Publication Type: Journal Article, Review)

Chemical References

• Carrier Proteins
• Eye Proteins
• retinoid isomerohydrolase
• cis-trans-Isomerases

Topics

• Animals
• Carrier Proteins (genetics, metabolism)
• Dependovirus (genetics)
• Evidence-Based Medicine
• Eye Proteins (genetics, metabolism)
• Gene Transfer Techniques
• Genetic Therapy (adverse effects)
• Genetic Vectors
• Humans
• Leber Congenital Amaurosis (genetics, metabolism, physiopathology, therapy)
• Retina (metabolism, physiopathology)
• Translational Research, Biomedical
• Treatment Outcome
• Vision, Ocular
• cis-trans-Isomerases