Journal article
Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations
iScience, v 24(5), 102409
21 May 2021
PMID: 33997691
Featured in Collection : UN Sustainable Development Goals @ Drexel
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.
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Details
- Title
- Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations
- Creators
- Samuel G. Jacobson - Penn Presbyterian Medical CenterArtur Cideciyan - Penn Presbyterian Medical CenterAllen C. Ho - Wills Eye HospitalIgor Peshenko - Salus UniversityAlexandra Garafalo - Penn Presbyterian Medical CenterAlejandro J. Roman - Penn Presbyterian Medical CenterAlexander Sumaroka - Penn Presbyterian Medical CenterVivian Wu - University of PennsylvaniaArun K. Krishnan - Penn Presbyterian Medical CenterRebecca Sheplock - Penn Presbyterian Medical CenterSanford L. Boye - University of FloridaAlexander M. Dizhoor - Salus UniversityShannon E. Boye - Univ Florida, Dept Pediat, Div Cellular & Mol Therapy, Coll Med, Gainesville, FL USA
- Publication Details
- iScience, v 24(5), 102409
- Publisher
- Elsevier
- Number of pages
- 26
- Grant note
- Atsena Therapeutics Inc. Sanofi U.S Services Inc. R01 EY11522 / NIH (NEI); United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Eye Institute (NEI)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Neurobiology and Anatomy; Pennsylvania College of Optometry (PCO)
- Web of Science ID
- WOS:000653990500024
- Scopus ID
- 2-s2.0-85104581772
- Other Identifier
- 991022035261404721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Ophthalmology