Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
Open accessAbstract
Retinal gene therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration that leads to severe sight loss in young people. In the present study, we report the first-in-human phase 1/2, dose-escalation clinical trial for X-linked RP caused by mutations in the RP GTPase regulator (RPGR) gene in 18 patients over up to 6 months of follow-up (https://clinicaltrials.gov/: NCT03116113). The primary outcome of the study was safety, and secondary outcomes included visual acuity, microperimetry and central retinal thickness. Apart from steroid-responsive subretinal inflammation in patients at the higher doses, there were no notable safety concerns after subretinal delivery of an adeno-associated viral vector encoding codon-optimized human RPGR (AAV8-coRPGR), meeting the pre-specified primary endpoint. Visual field improvements beginning at 1 month and maintained to the last point of follow-up were observed in six patients.
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In 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 [7]
Split into 2 atoms — 1 confirmed, 0 partially supported, 1 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
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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 [7]
The Results passage reports inflammation in 7 of 9 patients receiving higher vector concentrations, versus none in the lower-concentration cohorts. The Discussion says this inflammation potentially offset visual gains. The paper does not establish that dose-dependent inflammation occurred in many trials or that it limited the vector dose used; its efficacy conclusion is also more tentative than the citing sentence suggests. (LLM, conf=0.86)
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 [7]
The Methods (Concomitant therapy; page not provided) report that every participant in this trial received a 21-day prednisolone course intended to minimize inflammation or immune responses; the Discussion reports that oral corticosteroids resolved inflammatory deposits. The source does not establish that many retinal gene therapy trials use this protocol, and this trial’s course began two days before treatment rather than lasting 21 days after it. (LLM, conf=0.87)
Experimental — accuracy not yet measuredThis vector has demonstrated successful rescue of retinal sensitivity and structure in a Phase I/II clinical trial with a favourable immune response profile.
“This vector has demonstrated successful rescue of retinal sensitivity and structure in a Phase I/II clinical trial with a favourable immune response profile (Cehajic-Kapetanovic 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 Cehajic-Kapetanovic et al., 2020
The Results report improved retinal sensitivity in some patients in this Phase I/II trial, but the Discussion describes structural improvement as putative and based on detailed analysis of one patient; retinal structure remained broadly similar across the cohort. The safety findings were generally reassuring, with no serious adverse events or dose-limiting toxicities at six months, but 7 of 9 higher-dose patients developed inflammation requiring corticosteroids. The claim overstates both structural rescue and how uniformly favourable the immune response was. (LLM, conf=0.88)
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 [7]
OCT demonstrated scattered subretinal deposits in that participant.
“OCT demon strated scattered subretinal deposits.”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Cehajic-Kapetanovic et al., 2020
After an initial retinal sensitivity gain following subretinal gene therapy in RPGR-associated RP, one participant experienced a subacute drop in retinal sensitivity from 3.4 to 0.0 dB in the treated eye between 4 and 5 weeks after treatment.
“After an initial retinal sensitivity gain following subretinal gene therapy, one participant experienced a subacute drop in retinal sensitivity from 3.4 to 0.0 dB in the treated eye between 4 and 5 weeks after treatment.”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Cehajic-Kapetanovic et al., 2020
A course of oral corticosteroids resulted in dissolution of the subretinal deposits and overall retinal sensitivity gain by 3 months in that participant.
“A course of oral corticosteroids was re-commenced, resulting in dissolution of the subretinal deposits and overall retinal sensitivity gain by 3 months.”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Cehajic-Kapetanovic et al., 2020
Visual acuity remained unaffected throughout in that participant.
“However, visual acuity remained unaffected throughout.”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Cehajic-Kapetanovic et al., 2020
In the Phase I/II trial of cotoretigene toliparvovec in retinitis pigmentosa, a 3-week tapering course of systemic immunosuppression was employed, and 7 of 18 participants still developed intraocular inflammation following subretinal vector administration.
“For example, the Phase I/II trial of cotoretigene toliparvovec (Nightstar Therapeutics, acquired by Biogen, MA, USA) in RP employed a 3-week tapering course of systemic immunosuppression (Cehajic-Kapetanovic et al., 2020). Unfortunately, 7 of 18 participants still developed intraocular inflammation following subretinal vector administration.”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Cehajic-Kapetanovic et al., 2020
In more serious events, vitreous cells may accumulate near the fovea, leading to a drop in visual acuity and warranting a more prolonged course of corticosteroids.
“In more serious events, vitreous cells may accumulate near the fovea, leading to a drop in visual acuity and warranting a more prolonged course of corticosteroids [36].”
From Risk mitigation of immunogenicity: a key to personalized retinal gene therapy (2021) · cites this paper as [36]
Preliminary results suggest that at the optimal dose, RPGR gene replacement can reverse visual field loss in X-linked retinitis pigmentosa.
“Preliminary results have been highly encouraging, indicating that at the optimal therapeutic dose, RPGR gene replacement could lead to reversal of visual field loss in patients with X-linked retinitis pigmentosa [Cehajic-Kapetanovic 2020].”
From Correcting visual loss by genetics and prosthetics (2020) · cites this paper as Cehajic-Kapetanovic 2020
A completed clinical trial at Phase 1/2 by Biogen showed safety but not significantly improved electrophysiological outcomes measured by visual accuracy and microperimetry in treated eyes compared to untreated at 6 months.
“A completed clinical trial at Phase 1/2 by Biogen showed safety but not significantly improved electrophysiological outcomes measured by visual accuracy and microperimetry in treated eyes compared to untreated at 6 months. 49”
From Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches (2025) · cites this paper as [49]
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Self-citation
- Authors
- Cehajic-Kapetanovic, J., Xue, K., Martinez-Fernandez de la Camara, C., Nanda, A., Davies, A., Wood, L. J., Salvetti, A. P., Fischer, M. D., Aylward, J. W., Barnard, A. R., Jolly, J. K., Luo, E., Lujan, B. J., Ong, T., Girach, A., Black, G. C. M., Gregori, N. Z., Davis, J. L., Rosa, P. R., Lotery, A. J., Lam, B. L., Stanga, P. E., & MacLaren, R. E.
- Affiliations
- University of Oxford (GB)
- Oregon Health & Science University (US)
- Manchester Academic Health Science Centre (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- Corresponding author
- MacLaren, Robert E.
- ORCID
- Venue
- Nature Medicine
- Published
- 2020-02-24
- Volume
- 26
- Issue
- 3
- Pages
- 354-359
- ISSN
- 1078-8956 (ISSN-L)
- 1546-170X
- PMC
- PMC7104347
- OpenAlex
- W3008742929
- Cited by
- 368
- References
- 28
- Citations by year
- 2026: 43 · 2025: 60 · 2024: 70 · 2023: 48 · 2022: 48 · 2021: 72 · 2020: 27
- FWCI
- 15.81
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Funders
- DH | National Institute for Health Research
- Trial was sponsored by Biogen Inc.
- 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
- X-linked retinitis pigmentosa, retinal gene therapy, AAV8 vector, subretinal gene delivery, safety, visual acuity, microperimetry, central retinal thickness, photoreceptor degeneration
- MeSH terms
- Adult, Eye Proteins, Humans, Middle Aged, Mutation, Retina, Retinitis Pigmentosa, Genetic Therapy, Genetic Diseases, X-Linked, Young Adult
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