Document Type
Article
Publication Date
4-10-2021
Abstract
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 the treated eye. P1 also showed improvement in pupillary responses. Visual acuity remained stable from baseline in P1 and P2. P3, however, showed a gain of 0.3 logMAR in the treated eye, indicating greater cone-photoreceptor function. The results show safety and both rod- and cone-mediated efficacy of this therapy.
Recommended Citation
Jacobson, Samuel G.; Cideciyan, Artur V.; Ho, Allen; Peshenko, Igor V.; Garafalo, Alexandra V.; Roman, Alejandro J.; Sumaroka, Alexander; Wu, Vivian; Krishnan, Arun; Sheplock, Rebecca; Boye, Sanford; Dizhoor, Alexander; and Boye, Shannon, "Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations" (2021). Wills Eye Hospital Papers. Paper 123.
https://jdc.jefferson.edu/willsfp/123
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
Language
English
Comments
This article is the author’s final published version in iScience, Volume 24, Issue 5, May 2021, Article number 102409.
The published version is available at https://doi.org/10.1016/j.isci.2021.102409. Copyright © Jacobson et al.