Visual Acuity after Retinal Gene Therapy for Choroideremia
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To the Editor: Two recent clinical reports of retinal gene therapy with adeno-associated virus (AAV) vectors in patients with Leber's congenital amaurosis showed initial gains in visual function that subsequently declined.(1),(2) We previously reported early improvement in visual acuity in two of six patients who received retinal gene therapy in one eye (the study eye) to treat choroideremia,(3) a disease that is characterized by atrophy of the choriocapillaris and retinal pigment epithelium and involves vision loss that leads to blindness. Choroideremia is caused by loss-of-function mutations in the gene CHM. We delivered nonmutated CHM in an AAV vector (AAV.REP1) . . .
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AAV vector-mediated retinal gene therapies have demonstrated efficacy in clinical trials for inherited retinal dystrophies.
“Although adeno-associated viral (AAV) vector-mediated retinal gene therapies have demonstrated efficacy”
From Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina (2021) · cites this paper as [5]
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Discovery of a Cynomolgus Monkey Family With Retinitis Pigmentosa
Ikeda, Y., Nishiguchi, K. M., Miya, F., Shimozawa, N., Funatsu, J., Nakatake, S., Fujiwara, K., Tachibana, T., Murakami, Y., Hisatomi, T., et al. (2018) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.17-22958 · Cited by 29 · see citing works
Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art
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Gene therapy for inherited retinal degenerations: initial successes and future challenges
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Near-Infrared Autofluorescence in Choroideremia: Anatomic and Functional Correlations
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HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA
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Pluripotent stem cells and their utility in treating photoreceptor degenerations
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- Authors
- Edwards, T. L., Jolly, J. K., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Black, G. C., Webster, A. R., Lotery, A. J., Holder, G. E., Xue, K., Downes, S. M., Simunovic, M. P., Seabra, M. C., & MacLaren, R. E.
- Affiliations
- University of Oxford (GB)
- Oxford University Hospitals NHS Trust (GB)
- Imperial College London (GB)
- University of Manchester (GB)
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- University of Southampton (GB)
- Corresponding author
- MacLaren, Robert E.
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2016-05-19
- Volume
- 374
- Issue
- 20
- Pages
- 1996-1998
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC4996318
- OpenAlex
- W2342947338
- Cited by
- 195
- References
- 3
- Citations by year
- 2026: 3 · 2025: 6 · 2024: 7 · 2023: 11 · 2022: 11 · 2021: 21 · 2020: 21 · 2019: 28 · 2018: 41 · 2017: 36 · 2016: 10
- FWCI
- 19.92
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Spiral (Imperial College London) (submittedVersion)
- Funders
- Wellcome Trust (091984)
- National Institute for Health and Care Research (EME/12/66/35, NF-SI-0515-10020, NF-SI-0509-10185, NF-SI-0515-10047, CL-2014-13-003)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- choroideremia, retinal gene therapy, adeno-associated virus vectors, visual acuity, CHM gene, choriocapillaris atrophy, retinal pigment epithelium, Leber congenital amaurosis, gene replacement therapy
- MeSH terms
- Cataract, Humans, Retina, Visual Acuity, Genetic Therapy, Choroideremia
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