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<p>A successful gene therapy at Michigan State University in dogs with an inherited eye disease is ready to be developed for clinical use in human patients with a rare condition called retinitis pigmentosa.</p><p>Retinitis pigmentosa encompasses a group of rare genetic diseases that cause vision loss due to death of the light-sensing cells in the retina. Vision loss begins at a young age and progresses throughout an individual’s life span. One form of retinitis pigmentosa affects the gene cyclic nucleotide-gated channel beta 1, or <em>CNGB1</em>, which humans and dogs share.</p><p>Simon Petersen-Jones, a professor at Michigan State's MSU’s College of Veterinary Medicine, and his collaborators used an adeno-associated virus vector to deliver a normal copy of the <em>CNGB1</em> gene under control of a novel gene promoter. The novel promoter, which was developed by Petersen-Jones’s collaborators, is a modified form of the promoter for human rhodopsin, an important gene in retinal rod cells. The novel promoter ensures that the <em>CNGB1</em> introduced by the therapeutic is only active in the target cell — the rod photoreceptor. When injected under the retina, the therapeutic ameliorated disease and rescued eye function.</p><p>“There is currently an unmet need for treatment to save the vision of patients with <em>CNGB1</em>-retinitis pigmentosa,” said Petersen-Jones, who led the study. “This promising therapy that works so well in dogs is now sufficiently developed that the next step is to take it forward for a clinical trial in human patients.”</p>
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