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Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy
Open accessAbstract
At 96 weeks after unilateral intravitreal injection of rAAV2/2- ND4 , vision improved in both eyes in 78% of subjects affected with LHON.
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“Among RESCUE subjects, BCVA evolution was comparable in both rAAV2/2-ND4etreated and shamtreated eyes, similar to the bilateral changes seen among subjects in the REVERSE study.18”
From Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset (2021) · cites this paper as [18]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“A total of 78% of patients experienced some bilateral improvement of BCVA from baseline; 81% experienced a CRR from nadir in at least 1 eye, and 76% had an improvement of at least À0.3 logMAR (15 ETDRS letters equivalent) from nadir in at least 1 eye.”
From Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset (2021) · cites this paper as [18]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“It is also the first clinical study assessing the efficacy of a bilateral IVT of lenadogene nolparvovec, while in the three previous clinical studies REVEAL,21 REVERSE16–18 and RESCUE,17–19 lenadogene nolparvovec was exclusively administered as unilateral IVT.”
From Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy (2023) · cites this paper as [16]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The REVERSE (NCT02652780), RESCUE (NCT02652767), and REFLECT (NCT03293524) Phase III studies in LHON all reported a similar inci dence of intraocular inflammation with the same construct and dose of AAV vector despite different prophylaxis regimes.”
From Gene Therapy-Associated Uveitis (GTAU): Understanding and mitigating the adverse immune response in retinal gene therapy (2025) · cites this paper as Yu-Wai-Man et al., 2020
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“In the REVERSE trial, LHON subjects had loss of vision in both eyes of 6 months to 1 year at study enrollment, and a bilateral visual improvement was observed over the 96 weeks after treatment administration.18”
From Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset (2021) · cites this paper as [18]
The cited source says what the claim attributes to it.
In the citing paper
“RESCUE and REVERSE 18 are not the only studies to report bilateral BCVA improvement after unilateral injection of gene therapy.”
From Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset (2021) · cites this paper as [18]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“In the REVERSE study, at week 96, rAAV2/2-ND4etreated eyes showed a LS mean improvement from baseline in BCVA of À0.308 logMAR (þ15 ETDRS letters equivalent), and sham-treated eyes showed an LS mean improvement from baseline of À0.259 logMAR (þ13 ETDRS letters equivalent).18”
From Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset (2021) · cites this paper as [18]
The cited source says what the claim attributes to it.
In the citing paper
“This study suggested there is some transfer of viral vector DNA from the injected eyes to the uninjected contralateral eyes after unilateral lenadogene IVT.”
From Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy (2023) · cites this paper as [16]
The cited source says what the claim attributes to it.
In the citing paper
“The absence of systemic issues related to lenadogene nolparvovec treatment is supported by the limited biodissemination of the product, which is negligible in the blood of REFLECT patients, similar to what has been observed in previous clinical studies.16,19”
From Randomized trial of bilateral gene therapy injection for m.11778G>A MT-ND4 Leber optic neuropathy (2023) · cites this paper as [16]
In the citing paper
“RESCUE and REVERSE (ClinicalTrial.gov NCT02652767 and NCT026527080) (15,16) were 2 randomized, double-masked, sham-controlled, multicenter, international, pivotal clinical trials to evaluate the efficacy of a single IVT of rAAV2/2-ND4 in subjects with LHON secondary to the m.11778G>A mutation.”
From Cross-sectional analysis of baseline visual parameters in subjects recruited into the RESCUE and REVERSE ND4-LHON gene therapy studies (2021) · cites this paper as [16]
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Gene therapy and mRNA drugs approach for mitochondrial OXPHOS deficiencies
Garone, C., Sabeni, S., & Carli, S. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.09.036 · Cited by 1
Visual Neurorestoration: An Expert Review of Current Strategies for Restoring Vision in Humans
Cavaleri, J., Lin, M. P., Wu, K., Gilbert, Z. D., Huang, C. Y., Lo, Y. T., Garimella, V., Dallas, J., Briggs, R. G., Borja, A. J., et al. (2025) · Brain Sciences · doi:10.3390/brainsci15111170 · Cited by 1
Dong, Y., Hao, Z., Liu, Y., Chang, A., Porciatti, V., Lam, B. L., Jin, X., & Yu, H. (2025) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.66.14.58 · Cited by 1
Ren, D., Chauveau, G. A., Cabon, E., Vendomèle, J., Vignal‐Clermont, C., Saliba, H., Ail, D., Dalkara, D., & Fisson, S. (2026) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2026.101443 · Cited by 1
Self-citationTakano, F., Ueda, K., Kurimoto, T., Arai, M., Nagai, T., Yamada‐Nakanishi, Y., & Nakamura, M. (2025) · Scientific Reports · doi:10.1038/s41598-025-89076-z · Cited by 1
Yu‐Wai‐Man, P., Newman, N. J., Carelli, V., Biousse, V., Piérache, A., Montestruc, F., Taiel, M., & Sahel, J. (2026) · British Journal of Ophthalmology · doi:10.1136/bjo-2025-329206 · Cited by 1
Self-citationLiu, X., Zhang, M., & Wang, Z. (2026) · Experimental Biology and Medicine · doi:10.3389/ebm.2026.11128 · Cited by 1
Kobak, J., Tyczyńska, M., Forma, A., Dudek, I., Maani, A., Zembala, P., & Baj, J. (2022) · Journal of Education Health and Sport · doi:10.12775/jehs.2022.12.04.004 · Cited by 1
Rouzier, C., Chaussenot, A., Bannwarth, S., Ait-El-Mkadem, S., Fragaki, K., & Paquis‐Flucklinger, V. (2022) · EMC - Pediatría · doi:10.1016/s1245-1789(22)46497-3 · Cited by 1
Gunawardena, K., Dissanayake, V. H. W., & Chang, T. (2023) · Journal of Medical Case Reports · doi:10.1186/s13256-023-03763-x · Cited by 1
Hassan, A. K., Mohsen, M., & Serhan, H. A. A. (2024) · Neuro-Ophthalmology · doi:10.1080/01658107.2024.2360413 · Cited by 1
Lessons learned from the RE(ACT) conference on medical devices for rare diseases
Jonker, A. H., Buckinx, T., Pannese, L., Klap, P., Sahel, J., & Dooms, M. M. (2024) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2024.104976 · Cited by 2
Self-citationSergott, R. C., Carelli, V., Newman, N. J., Biousse, V., Yu‐Wai‐Man, P., Vignal‐Clermont, C., Josse, C., Taiel, M., Sahel, J., Barboni, P., et al. (2025) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.66.9.42 · Cited by 1
Self-citationGene Therapy, Diet and Drug Approaches to Treating Inherited Retinal Disease
Simunovic, M. P., Mack, H. G., Ayton, L. N., & Hassall, M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-820472-6.00154-7 · Cited by 1
Mitochondriale Erkrankungen: Was Sie für die Praxis wissen müssen
Klopstock, T. (2021) · InFo Neurologie + Psychiatrie · doi:10.1007/s15005-021-1821-z
Self-citationLessons From Rare Disease and Gene Therapy Clinical Studies in Ophthalmology
Spittal, N. (2021) · Springer eBooks · doi:10.1007/978-3-030-78605-2_14
労働・貧困・社会保障(3)福祉国家の胎動と『ベヴァリッジ報告』
唐鎌, 直. (2009) · 労働法律旬報
Genetic disorders affecting the optic nerve
(2022) · Elsevier eBooks · doi:10.1016/b978-0-12-813944-8.00015-9
Sahel, J. (2021) · médecine/sciences · doi:10.1051/medsci/2021078
Self-citationWang, Y., Hu, L., Liu, N.-H., Han, M., Zhou, T., Xing, L., & Jiang, H. (2022) · Research Square · doi:10.21203/rs.3.rs-2327478/v1
Current and Emerging Therapies for Leber Hereditary Optic Neuropathy
Davila-Siliezar, P. A., Laylani, N. A. R., Douglas, K. A. A., Miléa, D., & Lee, A. G. (2023) · touchREVIEWS in Ophthalmology · doi:10.17925/usor.2023.17.1.21
Wu, C. (2023) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000482
Hereditäre Optikusneuropathien
Rüther, K. (2023) · Springer Reference Medizin · doi:10.1007/978-3-662-65929-8_75-1
Fischer, A. F., Newman, N. J., & Peragallo, J. H. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13820-1.00015-3
Self-citationLeber hereditary optic neuropathy
(2024) · International Research Journal of Modernization in Engineering Technology and Science · doi:10.56726/irjmets49882
Current Insights into the Potential of Gene Therapy to Treat Rare Mitochondrial Diseases
Tirunagari, S., Dsa, S., & Jayaraman, M. (2024) · Springer eBooks · doi:10.1007/978-981-99-9323-9_8
Leber hereditary optic neuropathy genotype, phenotype and biochemical characteristics
Pajić, S. P., Marković, I., & Hawlina, M. (2024) · Medicinski podmladak · doi:10.5937/mp75-44775
Mitochondrial disorders due to mutations in the nuclear genome
Chinnery, P. F., & Horváth, R. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-19041-4.00055-8
Kim, S., Shih, G. C., & Brooks, B. P. (2024) · Elsevier eBooks · doi:10.1016/b978-0-12-815234-8.00005-7
Bilateral astrocyte reaction to unilateral insult in the optic projection to the brain
Holden, J. M., & Calkins, D. J. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2502602122
Self-citation
Metadata
- Authors
- Yu-Wai-Man, P., Newman, N. J., Carelli, V., Moster, M. L., Biousse, V., Sadun, A. A., Klopstock, T., Vignal-Clermont, C., Sergott, R. C., Rudolph, G., La Morgia, C., Karanjia, R., Taiel, M., Blouin, L., Burguière, P., Smits, G., Chevalier, C., Masonson, H., Salermo, Y., Katz, B., Picaud, S., Calkins, D. J., & Sahel, J.-A.
- Affiliations
- Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0PY, UK.
- Emory University (US)
- IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, Italy.
- Thomas Jefferson University (US)
- Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA 30322, USA.
- University of California, Los Angeles (US)
- German Center for Neurodegenerative Diseases (DE)
- Department of Neuro-Ophthalmology and Emergencies, Rothschild Foundation Hospital, 75019 Paris, France.
- LMU Klinikum (DE)
- University of Ottawa (CA)
- GenSight Biologics (France) (FR)
- GenSight Biologics, New York, NY 10016, USA.
- Centre National de la Recherche Scientifique (FR)
- Vanderbilt University Medical Center (US)
- Corresponding author
- Sahel, José-Alain
- ORCID
- Venue
- Science Translational Medicine
- Published
- 2020-12-09
- Volume
- 12
- Issue
- 573
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- OpenAlex
- W3112356895
- Semantic Scholar
- 2da05deb776c7a779083c86633384a37dd820660
- Cited by
- 232
- References
- 44
- Citations by year
- 2026: 23 · 2025: 39 · 2024: 34 · 2023: 39 · 2022: 42 · 2021: 49 · 2020: 5
- FWCI
- 10.95
- Type
- journal article
- Language
- en
- Open access
- Licence
- other-oa
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion, cc-by-nd)
- DZNE Pub (submittedVersion)
- Apollo (University of Cambridge) (submittedVersion)
- Apollo
- Funders
- GenSight Biologics
- 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 › Glaucoma and retinal disorders
- Keywords
- Leber's hereditary optic neuropathy, gene therapy, unilateral injection, nonhuman primate model, visual recovery, optic nerve, retina, anterior segment
- MeSH terms
- Dependovirus, Animals, Humans, NADH Dehydrogenase, Visual Acuity, Visual Fields, Genetic Therapy, Optic Atrophy, Hereditary, Leber, Tomography, Optical Coherence
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