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Ophthalmology Commons

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Pediatrics

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Thomas Jefferson University

Clinical Finding

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Full-Text Articles in Ophthalmology

Safety And Improved Efficacy Signals Following Gene Therapy In Childhood Blindness Caused By Gucy2d Mutations, Samuel G. Jacobson, Artur V. Cideciyan, Allen Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun Krishnan, Rebecca Sheplock, Sanford Boye, Alexander Dizhoor, Shannon Boye Apr 2021

Safety And Improved Efficacy Signals Following Gene Therapy In Childhood Blindness Caused By Gucy2d Mutations, Samuel G. Jacobson, Artur V. Cideciyan, Allen Ho, Igor V. Peshenko, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Vivian Wu, Arun Krishnan, Rebecca Sheplock, Sanford Boye, Alexander Dizhoor, Shannon Boye

Wills Eye Hospital Papers

A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized. A recombinant adeno-associated virus serotype 5 (rAAV5) vector carrying the human GUCY2D gene was delivered by subretinal injection to one eye in three adult patients with severe visual loss, nystagmus, but preserved retinal structure. Safety and efficacy parameters were monitored for 9 months post-operatively. No systemic toxicity was detected; there were no serious adverse events, and ocular adverse events resolved. P1 and P2 showed statistically significant rod photoreceptor vision improvement by full-field stimulus testing in …