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Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
Open accessAbstract
Background Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1 (REP1). We assessed the effects of retinal gene therapy with an adeno-associated viral (AAV) vector encoding REP1 (AAV.REP1) in patients with this disease.Methods In a multicentre clinical trial, six male patients (aged 35-63 years) with choroideremia were administered AAV.REP1 (0·6-1·0×10(10) genome particles, subfoveal injection). Visual function tests included best corrected visual acuity, microperimetry, and retinal sensitivity tests for comparison of baseline values with 6 months after surgery. This study is registered with ClinicalTrials.gov, number NCT01461213.Findings Despite undergoing retinal detachment, which normally reduces vision, two patients with advanced choroideremia who had low baseline best corrected visual acuity gained 21 letters and 11 letters (more than two and four lines of vision). Four other patients with near normal best corrected visual acuity at baseline recovered to within one to three letters. Mean gain in visual acuity overall was 3·8 letters (SE 4·1). Maximal sensitivity measured with dark-adapted microperimetry increased in the treated eyes from 23·0 dB (SE 1·1) at baseline to 25·3 dB (1·3) after treatment (increase 2·3 dB [95% CI 0·8-3·8]). In all patients, over the 6 months, the increase in retinal sensitivity in the treated eyes (mean 1·7 [SE 1·0]) was correlated with the vector dose administered per mm(2) of surviving retina (r=0·82, p=0·04). By contrast, small non-significant reductions (p>0·05) were noted in the control eyes in both maximal sensitivity (-0·8 dB [1·5]) and mean sensitivity (-1·6 dB [0·9]). One patient in whom the vector was not administered to the fovea re-established variable eccentric fixation that included the ectopic island of surviving retinal pigment epithelium that had been exposed to vector.Interpretation The initial results of this retinal gene therapy trial are consistent with improved rod and cone function that overcome any negative effects of retinal detachment. These findings lend support to further assessment of gene therapy in the treatment of choroideremia and other diseases, such as age-related macular degeneration, for which intervention should ideally be applied before the onset of retinal thinning.Funding UK Department of Health and Wellcome Trust.
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“Despite a 28-day oral corticosteroid therapy started 2 days before the first IVT, a regimen similar to that provided in several other clinical studies using IVT or sub-retinal AAV-based gene therapies,41–45 70.7% of lenadogene nolparvovec-treated eyes developed some degree of intraocular inflammation versus 10.2% of placebo-treated eyes.”
From Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy (2023) · cites this paper as [44]
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“As a consequence, wild-type AAV-based gene therapies for ophthalmologic indications generally require relatively high doses and/or administration via subretinal injection, an invasive surgical procedure that requires detachment of photoreceptors from the RPE and reportedly results in transduction of <5% of the retinal surface. 25 – 27”
From Design and Characterization of a Novel Intravitreal Dual-Transgene Genetic Medicine for Neovascular Retinopathies (2024) · cites this paper as [26]
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“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 [4]
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“Moreover, a recent phase I trial for choroideremia showed promising signs of efficacy.15”
From Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates (2015) · cites this paper as [15]
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“Adeno-associated virus has been successful in clinical gene therapy trials for Leber's congenital amaurosis, hemophilia, familial lipoprotein lipase deficiency, and choroideremia.8–15,26,27,60,61”
From Antibody neutralization poses a barrier to intravitreal adeno-associated viral vector gene delivery to non-human primates (2015) · cites this paper as [15]
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“A different approach to subretinal injection is a 'two-step ' injection with initiation of a small 'pre-bleb ' using balanced saline solution (BSS) followed by slow propagation of the bleb using the viral vector (MacLaren et al., 2014). A considerable advantage of two-step injection is that it allows bleb propagation at a lower injection pressure (Scruggs et al., 2022).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as MacLaren et al., 2014
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“Significant inflammation was also observed at 1 × 1011 vg in clinical trials for choroideremia.90,102”
From Current clinical applications of in vivo gene therapy with AAVs (2021) · cites this paper as [102]
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“Injection protocols dating to 2014 (30, 31) called for a 2-step procedure, which largely avoids causing a break in Bruch's membrane but does not completely eliminate the risk (20, 32).”
From Subretinal therapy: technological solutions to surgical and immunological challenges (2022) · cites this paper as [30]
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“while subretinal viral gene therapy has a favourable safety profile [300]”
From Bruch’s Membrane: A Key Consideration with Complement-Based Therapies for Age-Related Macular Degeneration (2023) · cites this paper as [300]
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“A phase I/II clinical trial of subretinal gene therapy using an AAV2 vector to deliver human REP1 to the outer retina has shown sustained preservation or improvement of visual acuity over 2 to 5 years in patients with advanced disease [MacLaren 2014, Xue 2018].”
From Correcting visual loss by genetics and prosthetics (2020) · cites this paper as MacLaren 2014
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Metadata
- Authors
- MacLaren, R. E., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Seymour, L., Clark, K. R., During, M. J., Cremers, F. P. M., Black, G. C. M., Lotery, A. J., Downes, S. M., Webster, A. R., & Seabra, M. C.
- Affiliations
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- University of Oxford (GB)
- NIHR Oxford Biomedical Research Centre (GB)
- Imperial College London (GB)
- Nationwide Children's Hospital (US)
- The Ohio State University Wexner Medical Center (US)
- Radboud University Nijmegen (NL)
- Manchester Academic Health Science Centre (GB)
- University of Southampton (GB)
- ORCID
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 2014-03
- Volume
- 383
- Issue
- 9923
- Pages
- 1129-1137
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- PMC
- PMC4171740
- OpenAlex
- W2126115955
- Cited by
- 796
- References
- 28
- Citations by year
- 2026: 24 · 2025: 29 · 2024: 46 · 2023: 42 · 2022: 37 · 2021: 62 · 2020: 68 · 2019: 78 · 2018: 85 · 2017: 109 · 2016: 80 · 2015: 83 · 2014: 51
- FWCI
- 44.12
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Lancet (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- Wellcome Trust (091984)
- Cancer Research UK (11339)
- National Institute for Health and Care Research (NF-SI-0509-10185)
- Topics
- Health Sciences › Medicine › Ophthalmology › 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, Rab escort protein 1, CHM gene, X-linked retinal degeneration, visual acuity improvement, retinal sensitivity, microperimetry, retinal detachment, vector dose, rod and cone function, retinal pigment epithelium, eccentric fixation, blindness treatment
- MeSH terms
- Adenoviridae, Adult, Aged, Fluorescence, Genetic Vectors, Humans, Male, Middle Aged, Retinal Detachment, Visual Acuity, Genetic Therapy, Choroideremia, Gene Transfer Techniques, Transgenes, Adaptor Proteins, Signal Transducing, Injections, Intraocular
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