Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia
Open accessAbstract
Retinal gene therapy is increasingly recognized as a novel molecular intervention that has huge potential in treating common causes of blindness, the majority of which have a genetic aetiology1–5. Choroideremia is a chronic X-linked retinal degeneration that was first described in 18726. It leads to progressive blindness due to deficiency of Rab-escort protein 1 (REP1). We designed an adeno-associated viral vector to express REP1 and assessed it in a gene therapy clinical trial by subretinal injection in 14 patients with choroideremia. The primary endpoint was vision change in treated eyes 2 years after surgery compared to unoperated fellow eyes. Despite complications in two patients, visual acuity improved in the 14 treated eyes over controls (median 4.5 letter gain, versus 1.5 letter loss, P = 0.04), with 6 treated eyes gaining more than one line of vision (>5 letters). The results suggest that retinal gene therapy can sustain and improve visual acuity in a cohort of predominantly late-stage choroideremia patients in whom rapid visual acuity loss would ordinarily be predicted. The long-term follow-up results of a phase 1/2 retinal gene therapy clinical trial for choroideremia (NCT01461213) support the safety and efficacy of the treatment.
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Ocular AAV treatments have caused permanent visual acuity loss after intraocular inflammation.
“ocular AAV therapies leading to a permanent reduction in visual acuity following intraocular inflammation (9–11)”
From Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses (2021) · cites this paper as [11]
The Results report significant retinal inflammation in patient C2 two weeks after AAV treatment, and Online Methods describe it as visually significant vitritis and retinitis. Neither passage establishes a permanent reduction in visual acuity. The Discussion also says the inflammation might have been related to the injection surgery, so its cause is uncertain. (LLM, conf=0.84)
Experimental — accuracy not yet measuredClinical trials have reported AAV dose-dependent intraocular inflammation and persistent visual acuity loss after subretinal AAV despite prophylactic immunosuppression.
“AAV dose-dependent intraocular inflammation and a few instances of persistent loss of visual acuity have been independently reported in clinical trials following subretinal AAV administration despite prophylactic immunosuppression (9–11).”
From Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses (2021) · cites this paper as [11]
The Online Methods report visually significant vitritis and retinitis in patient C2 despite prophylactic prednisolone. The Results identify C2 as a high-dose recipient, but neither the Results nor Discussion establishes a dose-dependent pattern of inflammation. They also do not report persistent visual-acuity loss; the Results instead report an overall improvement in treated eyes at two years. (LLM, conf=0.87)
Experimental — accuracy not yet measuredDose-dependent retinal inflammation (GTAU) has been observed in many retinal gene therapy trials, limiting vector dose and therapeutic efficacy.
“Despite the perceived low immunogenicity of AAV and relative immune privilege of the intraocular environment,8 dose-dependent retinal inflammation, or gene therapy-associated uveitis (GTAU), has been observed in many retinal gene therapy trials, which limits the vector dose and therapeutic efficacy.”
From Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina (2021) · cites this paper as [6]
The Results report significant retinal inflammation in one patient (C2), described as most likely vector-related; the Discussion adds that it might instead have resulted from surgical vector reflux. The paper does not establish a dose-dependent pattern across many trials or say that inflammation limited vector dose or therapeutic efficacy. Its Online Methods describe an extended steroid regimen after C2’s inflammation, not a dose reduction. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIn phase 1/2 dose-escalation trials for RPE65-associated LCA, choroideremia, and RPGR-associated X-linked retinitis pigmentosa, patients receiving higher doses of AAV presented with signs of retinal inflammation including vitritis, retinitis, and choroiditis.
“In the phase 1/2 dose-escalation trials for RPE65-associated LCA, choroideremia, and retinitis pigmentosa GTPase regulator (RPGR)-associated X-linked retinitis pigmentosa, patients receiving higher doses of AAV have presented with various signs of retinal inflammation, including vitritis, retinitis, and choroiditis,2,6,7 implicating the presence of a cell-mediated immune response.”
From Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina (2021) · cites this paper as [6]
Split into 2 atoms — 0 confirmed, 2 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredMany current retinal gene therapy trials adopt a standardized immunosuppression protocol up to 21 days post-treatment, which may ameliorate this immune response in humans.
“Many current retinal gene therapy trials adopt a standardized immunosuppression protocol up to 21 days post-treatment, which may ameliorate this immune response in humans.6,7,40”
From Characterizing the cellular immune response to subretinal AAV gene therapy in the murine retina (2021) · cites this paper as [6]
Online Methods (Subretinal administration of AAV vector; page unavailable) describes oral prednisolone in this trial, extended after a patient developed retinal inflammation. The amended regimen continued through day 18 after treatment, not day 21. This single trial also does not establish that many retinal gene therapy trials use a standardized protocol or that the extension ameliorates immune responses in humans. (LLM, conf=0.88)
Experimental — accuracy not yet measured
Adoption of foot pedal-controlled viscous fluid injection systems has greatly improved injection pressure control during subretinal injection.
“In particular, the adoption of foot pedal-controlled viscous fluid injection systems has greatly improved injection pressure control during subretinal injection (Fischer et al., 2016; Xue et al., 2018).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Xue et al., 2018
The Discussion (page unavailable) says the researchers developed an automated system for subretinal injection, and the Results (page unavailable) report its use in five treated eyes. The copy does not describe a foot pedal-controlled viscous-fluid system or show that it greatly improved injection-pressure control. (LLM, conf=0.78)
Experimental — accuracy not yet measuredSubretinal gene therapy appears to induce neutralising antibody formation only infrequently in clinical trials and pre-clinical studies.
“In contrast, subretinal gene therapy appears to induce NAb formation only infrequently in clinical trials and pre-clinical studies (Rakoczy et al., 2015; Reichel et al., 2018; Xue et al., 2018; Fischer et al., 2020).”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Xue et al., 2018
The Results report that anti-AAV2 neutralising antibody assays in this subretinal gene-therapy trial detected no systemic immune response, supporting the clinical-trial portion of the claim. The cited passages do not report neutralising antibody formation in pre-clinical studies or establish how frequently it occurs across studies. (LLM, conf=0.85)
Experimental — accuracy not yet measuredAAV 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 [6]
Inflammatory reactions to gene therapy in the eye have led to permanent vision loss for some patients.
“Nonetheless, inflammatory reactions to gene therapy in the eye have led to permanent vision loss for some patients7–9.”
From Investigation of Cas9 Antibodies in the Human Eye (2022) · cites this paper as [9]
A phase I/II trial of subretinal AAV2-mediated REP1 delivery showed preserved or improved visual acuity over 2-5 years in patients with advanced choroideremia.
“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 Xue 2018
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Self-citationTherapy Approaches for Stargardt Disease
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“Many current retinal gene therapy trials adopt a standardized immunosuppression protocol up to 21 days post-treatment, which may ameliorate this immune response in humans.(6,7,40)”
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Self-citation
- Authors
- Xue, K., Jolly, J. K., Barnard, A. R., Rudenko, A., Salvetti, A. P., Patrício, M. I., Edwards, T. L., Groppe, M., Orlans, H. O., Tolmachova, T., Black, G. C., Webster, A. R., Lotery, A. J., Holder, G. E., Downes, S. M., Seabra, M. C., & MacLaren, R. E.
- Affiliations
- University of Oxford (GB)
- Oxford University Hospitals NHS Trust (GB)
- Imperial College London (GB)
- St Mary's Hospital (GB)
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- University of Southampton (GB)
- University College London (GB)
- Corresponding author
- MacLaren, Robert E.
- ORCID
- Venue
- Nature Medicine
- Published
- 2018-10
- Volume
- 24
- Issue
- 10
- Pages
- 1507-1512
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- PMC
- PMC7032956
- OpenAlex
- W2893026352
- Semantic Scholar
- c5ea88dabcecb2c7d2fa7f60b4ea7a8e431e29d4
- Cited by
- 185
- References
- 36
- Citations by year
- 2026: 11 · 2025: 12 · 2024: 21 · 2023: 17 · 2022: 23 · 2021: 40 · 2020: 34 · 2019: 26 · 2018: 1
- FWCI
- 8.98
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (acceptedVersion)
- PubMed Central (acceptedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Wellcome Trust (091984)
- National Institute for Health and Care Research (NF-SI-0515-10020, HICF-1009-006, NF-SI-0515-10047, CL-2014-13-003, ICA-CDRF-2016-02-002)
- Royal College of Surgeons of Edinburgh
- University College London
- University of Oxford
- Oxford University Hospitals NHS Foundation Trust
- Moorfields Eye Hospital NHS Foundation Trust
- Medical Research Council (MR/N00101X/1)
- 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, Rab escort protein 1, REP1, adeno-associated virus vectors, subretinal injection, visual acuity, X-linked retinal degeneration, gene therapy clinical trials, visual outcome
- MeSH terms
- Dependovirus, Adult, Aged, Genetic Vectors, Humans, Male, Middle Aged, Retina, Retinal Degeneration, Vision, Ocular, Visual Acuity, Genetic Therapy, Choroideremia, Adaptor Proteins, Signal Transducing
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