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Adv Exp Med Biol. 2018;1074:101-107. doi: 10.1007/978-3-319-75402-4_13.

Success of Gene Therapy in Late-Stage Treatment.

Koch SF1, Tsang SH2,3,4,5.

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Physiological Genomics, Biomedical Center, Ludwig-Maximilians University Munich, 82152, Planegg/Munich, Germany.
Barbara & Donald Jonas Laboratory of Stem Cells & Regenerative Medicine and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Edward S. Harkness Eye Institute, New York Presbyterian Hospital, New York, NY, USA.
Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center, New York, NY, USA.


Retinal gene therapy has yet to achieve sustained rescue after disease onset - perhaps because transduction efficiency is insufficient ("too little") and/or the disease is too advanced ("too late") in humans. To test the latter hypothesis, we used a mouse model for retinitis pigmentosa (RP) that allowed us to restore the mutant gene in all diseased rod photoreceptor cells, thereby generating optimally treated retinas. We then treated mice at an advanced disease stage and analyzed the rescue. We showed stable, sustained rescue of photoreceptor structure and function for at least 1 year, demonstrating gene therapy efficacy after onset of degeneration. The results suggest that RP patients are treatable, even when the therapy is administered at late disease stages.


Gene therapy; Inducible rod-specific Cre driver; Late-stage treatment; PDE6b; Photoreceptor degeneration; Rescue; Retinitis pigmentosa

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