Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy
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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-ND4-treated and sham-treated eyes, similar to the bilateral changes seen among subjects in the REVERSE study.
“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]
The Efficacy Data at Week 96 section reports similar BCVA changes in treated and sham-treated eyes for most REVERSE subjects, including bilateral improvement in 78%. The Introduction says the paper reports REVERSE results; it names RESCUE as a separate trial but gives no BCVA results for RESCUE subjects. Page numbers are unavailable in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIn the REVERSE study, 78% of patients experienced some bilateral improvement of BCVA from baseline, 81% experienced a clinically relevant recovery from nadir in at least 1 eye, and 76% had an improvement of at least -0.3 logMAR (15 ETDRS letters equivalent) from nadir in at least 1 eye.
“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]
The Efficacy Data at Week 96 section reports bilateral BCVA improvement from baseline in 29 subjects (78%), supporting the first figure. It reports clinically relevant recovery from nadir in 78%, not 81%, and does not report that 76% improved by at least −0.3 logMAR from nadir in at least one eye. The responder analysis instead reports 41% meeting a related threshold assessed from baseline. (LLM, conf=0.91)
Experimental — accuracy not yet measuredREFLECT is the first clinical study assessing the efficacy of bilateral IVT of lenadogene nolparvovec, while in the three previous clinical studies lenadogene nolparvovec was exclusively administered as unilateral IVT.
“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&gt;A <i>MT-ND4</i> Leber optic neuropathy (2023) · cites this paper as [16]
The Introduction and trial description confirm that REVERSE used unilateral intravitreal rAAV2/2-ND4, with the fellow eye receiving a sham treatment (page unavailable). The Introduction names REFLECT and RESCUE but does not describe their injection designs; our copy also does not establish that REFLECT was the first bilateral-injection study or that all three earlier studies used unilateral injections. (LLM, conf=0.86)
Experimental — accuracy not yet measuredThe REVERSE, RESCUE, and REFLECT Phase III studies in LHON all reported a similar incidence of intraocular inflammation with the same construct and dose of AAV vector despite different prophylaxis regimes.
“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
The Introduction identifies REVERSE, RESCUE, and REFLECT as LHON trials examining the same rAAV2/2-ND4 vector. Safety Data at Week 96 reports intraocular inflammation in 34 of 37 treated eyes (92%) in REVERSE, without prophylactic steroids. Our copy does not report inflammation rates, doses, or prophylaxis regimens for RESCUE and REFLECT, so it cannot support the claimed similarity across all three studies. (LLM, conf=0.88)
Experimental — accuracy not yet measuredIn 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.
“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]
RESCUE and REVERSE are not the only studies to report bilateral BCVA improvement after unilateral injection of gene therapy.
“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 measuredIn the REVERSE study, at week 96, rAAV2/2-ND4-treated eyes showed a least squares mean improvement from baseline in BCVA of -0.308 logMAR (+15 ETDRS letters equivalent), and sham-treated eyes showed a least squares mean improvement from baseline of -0.259 logMAR (+13 ETDRS letters equivalent).
“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]
A mechanistic study conducted in non-human primates suggested there is some transfer of viral vector DNA from the injected eyes to the uninjected contralateral eyes after unilateral lenadogene IVT.
“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&gt;A <i>MT-ND4</i> Leber optic neuropathy (2023) · cites this paper as [16]
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 previous clinical studies.
“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&gt;A <i>MT-ND4</i> Leber optic neuropathy (2023) · cites this paper as [16]
RESCUE and REVERSE were phase III randomized, double-masked, sham-controlled, multicenter, international, pivotal clinical trials evaluating the efficacy of a single intravitreal injection of rAAV2/2-ND4 in subjects with LHON secondary to the m.11778G>A mutation.
“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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Cites
(2005) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2005.03.057 · Cited by 4,396 · see citing works
Russell, S., Bennett, J., Wellman, J. A., Chung, D. C., Yu, Z.-F., Tillman, A., Wittes, J., Pappas, J., Elci, O., McCague, S., et al. (2017) · The Lancet · doi:10.1016/s0140-6736(17)31868-8 · Cited by 1,952 · see citing works
Proper Method for Calculating Average Visual Acuity
Holladay, J. T. (1997) · Journal of Refractive Surgery · doi:10.3928/1081-597x-19970701-16 · Cited by 1,101 · see citing works
Zingg, B., Chou, X.-L., Zhang, Z., Mesik, L., Liang, F., Tao, H. W., & Zhang, L. I. (2016) · Neuron · doi:10.1016/j.neuron.2016.11.045 · Cited by 744 · see citing works
Standardizatlon of Vitreal inflammatory Activity in Intermediate and Posterior Uveitis
Nussenblatt, R. B., Palestine, A. G., Chan, C.-C., & Roberge, F. (1985) · Ophthalmology · doi:10.1016/s0161-6420(85)34001-0 · Cited by 684 · see citing works
A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy.
Klopstock, T., Yu-Wai-Man, P., Dimitriadis, K., Rouleau, J., Heck, S., Bailie, M., Atawan, A., Chattopadhyay, S., Schubert, M., Garip, A., et al. (2011) · Brain · doi:10.1093/brain/awr170 · Cited by 578 · see citing works
Self-citationSingle-cell analysis of experience-dependent transcriptomic states in the mouse visual cortex
Hrvatin, S., Hochbaum, D. R., Nagy, M. A., Cicconet, M., Robertson, K., Cheadle, L., Zilionis, R., Ratner, A., Borges-Monroy, R., Klein, A. M., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-017-0029-5 · Cited by 497 · see citing works
The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England
Yu‐Wai‐Man, P., Griffiths, P. G., Brown, D. T., Howell, N., Turnbull, D. M., & Chinnery, P. F. (2003) · The American Journal of Human Genetics · doi:10.1086/346066 · Cited by 485 · see citing works
Self-citationNewman, N. J., Lott, M. T., & Wallace, D. C. (1991) · American Journal of Ophthalmology · doi:10.1016/s0002-9394(14)76784-4 · Cited by 403 · see citing works
Self-citationGiordano, C., Iommarini, L., Giordano, L., Maresca, A., Pisano, A., Valentino, M. L., Caporali, L., Liguori, R., Deceglie, S., Roberti, M., et al. (2013) · Brain · doi:10.1093/brain/awt343 · Cited by 282 · see citing works
Self-citationRescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy
Guy, J. R., Qi, X., Pallotti, F., Schon, E. A., Manfredi, G., Carelli, V., Martinuzzi, A., Hauswirth, W. W., & Lewin, A. S. (2002) · Annals of Neurology · doi:10.1002/ana.10354 · Cited by 273 · see citing works
Self-citationLeber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
Cideciyan, A. V. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.04.002 · Cited by 256 · see citing works
Idebenone Treatment In Leber's Hereditary Optic Neuropathy
Carelli, V., Morgia, C. L., Valentino, M. L., Rizzo, G., Carbonelli, M., Negri, A. M. D., Sadun, F., Carta, A., Guerriero, S., Simonelli, F., et al. (2011) · Brain · doi:10.1093/brain/awr180 · Cited by 243 · see citing works
Self-citationCarelli, V., Carbonelli, M., de Coo, I. F., Kawasaki, A., Klopstock, T., Lagrèze, W. A., La Morgia, C., Newman, N. J., Orssaud, C., Pott, J. W. R., et al. (2017) · Journal of Neuro-Ophthalmology · doi:10.1097/wno.0000000000000570 · Cited by 228 · see citing works
Self-citationAriazi, J. L., Benowitz, A. B., de Biasi, V., den Boer, M. D., Cherqui, S., Cui, H., Douillet, N., Eugenin, E., Favre, D., Goodman, S., et al. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00333 · Cited by 219 · see citing works
Intravitreal injection of AAV2 transduces macaque inner retina
Yin, L., Greenberg, K., Hunter, J. J., Dalkara, D., Kolstad, K. D., Masella, B. D., Wolfe, R., Visel, M., Stone, D., Libby, R. T., et al. (2011) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.10-6250 · Cited by 212 · see citing works
Gene Therapy for Leber Hereditary Optic Neuropathy
Guy, J., Feuer, W. J., Davis, J. L., Porciatti, V., Gonzalez, P. J., Koilkonda, R. D., Yuan, H., Hauswirth, W. W., & Lam, B. L. (2017) · Ophthalmology · doi:10.1016/j.ophtha.2017.05.016 · Cited by 204 · see citing works
Regulation of Mitochondrial Biogenesis and Its Intersection with Inflammatory Responses
Cherry, A. D., & Piantadosi, C. A. (2015) · Antioxidants and Redox Signaling · doi:10.1089/ars.2014.6200 · Cited by 188 · see citing works
A neurodegenerative perspective on mitochondrial optic neuropathies
Yu-Wai-Man, P., Votruba, M., Burté, F., La Morgia, C., Barboni, P., & Carelli, V. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1625-2 · Cited by 176 · see citing works
Self-citationSun~er, I. J., Kokame, G. T., Yu, E., Ward, J., Dolan, C., & Bressler, N. M. (2009) · Investigative Opthalmology & Visual Science · doi:10.1167/iovs.08-3225 · Cited by 170 · see citing works
Axonal Transport and Mitochondrial Function in Neurons
Mandal, A., & Drerup, C. M. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00373 · Cited by 167 · see citing works
Long-term outcomes of gene therapy for the treatment of Leber’s hereditary optic neuropathy
Yang, S., Ma, S.-Q., Wan, X., He, H., Pei, H., Zhao, M.-J., Chen, C., Wang, D.-W., Dong, X.-Y., Yuan, J.-J., et al. (2016) · eBioMedicine · doi:10.1016/j.ebiom.2016.07.002 · Cited by 139 · see citing works
Redistribution of metabolic resources through astrocyte networks mitigates neurodegenerative stress
Cooper, M., Pasini, S., Lambert, W. S., D’Alessandro, K. B., Yao, V., Risner, M. L., & Calkins, D. J. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2009425117 · Cited by 133 · see citing works
Self-citationBonnet, C., Augustin, S., Ellouze, S., Bénit, P., Bouaita, A., Rustin, P., Sahel, J.-A., & Corral-Debrinski, M. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2008.04.018 · Cited by 130 · see citing works
Self-citationQuality of Life in Patients with Leber Hereditary Optic Neuropathy
Kirkman, M. A., Korsten, A., Leonhardt, M., Dimitriadis, K., de Coo, I. F. M., Klopstock, T., Griffiths, P. G., Hudson, G., Chinnery, P. F., & Yu‐Wai‐Man, P. (2009) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.08-3166 · Cited by 116 · see citing works
Self-citationAstrocytes shed large membrane vesicles that contain mitochondria, lipid droplets and ATP
Falchi, A. M., Sogos, V., Saba, F., Piras, M., Congiu, T., & Piludu, M. (2012) · Histochemistry and Cell Biology · doi:10.1007/s00418-012-1045-x · Cited by 115 · see citing works
Newman, N. J., Carelli, V., Taiel, M., & Yu-Wai-Man, P. (2020) · Journal of Neuro-Ophthalmology · doi:10.1097/wno.0000000000001045 · Cited by 111 · see citing works
Self-citationBouquet, C., Vignal Clermont, C., Galy, A., Fitoussi, S., Blouin, L., Munk, M. R., Valero, S., Meunier, S., Katz, B., Sahel, J. A., et al. (2019) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2018.6902 · Cited by 102 · see citing works
Self-citationSafety of rAAV2/2-ND4 gene therapy for leber hereditary optic neuropathy
Vignal, C., Uretsky, S., Fitoussi, S., Galy, A., Blouin, L., Girmens, J.-F., Bidot, S., Thomasson, N., Bouquet, C., Valero, S., et al. (2018) · Ophthalmology · doi:10.1016/j.ophtha.2017.12.036 · Cited by 99 · see citing works
Self-citationLam, B. L., Feuer, W. J., Schiffman, J. C., Porciatti, V., Vandenbroucke, R., Rosa, P. R., Gregori, G., & Guy, J. (2014) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2013.7971 · Cited by 96 · see citing works
Cwerman-Thibault, H., Augustin, S., Lechauve, C., Ayache, J., Ellouze, S., Sahel, J.-A., & Corral-Debrinski, M. (2015) · Molecular Therapy - Methods & Clinical Development · doi:10.1038/mtm.2015.3 · Cited by 86 · see citing works
Self-citationChildhood-onset Leber hereditary optic neuropathy
Majander, A. S., Bowman, R. J. C., Poulton, J., Antcliff, R. J., Reddy, M. A., Michaelides, M., Webster, A. R., Chinnery, P. F., Votruba, M., Moore, A. T., et al. (2017) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2016-310072 · Cited by 79 · see citing works
Self-citationPisano, A., Preziuso, C., Iommarini, L., Perli, E., Grazioli, P., Campese, A. F., Maresca, A., Montopoli, M., Masuelli, L., Sadun, A. A., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv396 · Cited by 73 · see citing works
Self-citationKoilkonda, R., Yu, H., Talla, V., Porciatti, V., Feuer, W. J., Hauswirth, W. W., Chiodo, V., Erger, K. E., Boye, S. L., Lewin, A. S., et al. (2014) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.14-15388 · Cited by 65 · see citing works
Seven-year follow-up of gene therapy for Leber’s hereditary optic neuropathy
Yuan, J., Zhang, Y., Liu, H., Wang, D., Du, Y., Tian, Z., Li, X., Yang, S., Pei, H., Wan, X., et al. (2020) · Ophthalmology · doi:10.1016/j.ophtha.2020.02.023 · Cited by 59 · see citing works
Sabel, B. A., Flammer, J., & Merabet, L. B. (2018) · Restorative Neurology and Neuroscience · doi:10.3233/rnn-180880 · Cited by 56 · see citing works
Koilkonda, R. D. (2010) · Archives of Ophthalmology · doi:10.1001/archophthalmol.2010.135 · Cited by 48 · see citing works
[33] Allotopic expression of mitochondrial ATP synthase genes in nucleus of Saccharomyces cerevisiae
Gray, R. E., Law, R. H. P., Devenish, R. J., & Nagley, P. (1996) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(96)64035-x · Cited by 43 · see citing works
Treatment strategies for Leber hereditary optic neuropathy
Jurkute, N., Harvey, J., & Yu-Wai-Man, P. (2019) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000646 · Cited by 38 · see citing works
Self-citationLiu, H., Yuan, J., Zhang, Y., Tian, Z., Li, X., Wang, D., Du, Y., Song, L., & Li, B. (2020) · Acta Ophthalmologica · doi:10.1111/aos.14379 · Cited by 35 · see citing works
Astrocytes eyeball axonal mitochondria
Burdett, T. C., & Freeman, M. R. (2014) · Science · doi:10.1126/science.1258295 · Cited by 19 · see citing works
Chemical and material communication between the optic nerves in rats
Yang, S., He, H., Zhu, Y., Wan, X., Zhou, L., Wang, J., Wang, W., Liu, L., & Li, B. (2015) · Clinical and Experimental Ophthalmology · doi:10.1111/ceo.12547 · Cited by 17 · see citing works
Correcting Finger Counting to Snellen Acuity
Karanjia, R., Hwang, T., Chen, A. F., Pouw, A. E., Tian, J. J., Chu, E. R., Wang, M. Y., Tran, J. S., & Sadun, A. A. (2016) · Neuro-Ophthalmology · doi:10.1080/01658107.2016.1209221 · Cited by 16 · see citing works
Self-citation(2018) · Acta Ophthalmologica · doi:10.1111/aos.13972_438 · Cited by 7 · see citing works
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Self-citationElbadawi, M. M., Eldehna, W. M., Wang, W., Agama, K., Pommier, Y. G., & Abe, M. (2021) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2021.113261 · Cited by 63 · see citing works
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Li, M., Wu, L., Si, H., Wu, Y., Liu, Y., Zeng, Y., & Shen, B. (2025) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-02081-y · Cited by 64 · see citing works
Nanobiomaterial vectors for improving gene editing and gene therapy
Hu, S. W., Ding, T., Tang, H., Guo, H., Cui, W., & Shu, Y. (2023) · Materials Today · doi:10.1016/j.mattod.2023.04.011 · Cited by 58 · see citing works
Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective
Donfrancesco, A. D., Massaro, G., Meo, I. D., Tiranti, V., Bottani, E., & Brunetti, D. (2022) · Pharmaceutics · doi:10.3390/pharmaceutics14061287 · Cited by 60 · see citing works
Adeno-Associated Virus Vector for Central Nervous System Gene Therapy
Zhu, D., Schieferecke, A. J., Lopez, P. A., & Schaffer, D. V. (2021) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2021.03.010 · Cited by 56 · see citing works
Applying genomic and transcriptomic advances to mitochondrial medicine
Macken, W. L., Vandrovcová, J., Hanna, M. G., & Pitceathly, R. D. S. (2021) · Nature Reviews Neurology · doi:10.1038/s41582-021-00455-2 · Cited by 56 · see citing works
Vignal-Clermont, C., Girmens, J.-F., Audo, I., Said, S. M., Errera, M.-H., Plaine, L., O’Shaughnessy, D., Taiel, M., & Sahel, J.-A. (2021) · BioDrugs · doi:10.1007/s40259-021-00468-9 · Cited by 51 · see citing works
Self-citationKlopstock, T., Priglinger, C., Yılmaz, A., Kornblum, C., Distelmaier, F., & Prokisch, H. (2021) · Deutsches Ärzteblatt international · doi:10.3238/arztebl.m2021.0251 · Cited by 51 · see citing works
Self-citationCommon methods in mitochondrial research (Review)
Yin, Y., & Shen, H. (2022) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2022.5182 · Cited by 52 · see citing works
Mitochondria in Retinal Ganglion Cells: Unraveling the Metabolic Nexus and Oxidative Stress
Yang, T.-H., Kang, E. Y., Lin, P., Yu, B. B.-C., Wang, J. H.-H., Chen, V., & Wang, N. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25168626 · Cited by 54 · see citing works
Update on viral gene therapy clinical trials for retinal diseases
Cheng, S.-Y., & Punzo, C. (2022) · Human Gene Therapy · doi:10.1089/hum.2022.159 · Cited by 49 · see citing works
Wang, J.-H., Zhan, W., Gallagher, T. L., & Gao, G. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.10.017 · Cited by 48 · see citing works
Mitochondrial optic neuropathies
Carelli, V., Morgia, C. L., & Yu‐Wai‐Man, P. (2023) · Handbook of clinical neurology · doi:10.1016/b978-0-12-821751-1.00010-5 · Cited by 47 · see citing works
Self-citationLeber hereditary optic neuropathy—new insights and old challenges
Sundaramurthy, S., Selvakumar, A., Ching, J., Dharani, V., Sarangapani, S., & Yu‐Wai‐Man, P. (2020) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-020-04993-1 · Cited by 49 · see citing works
Self-citationSladen, P. E., Perdigão, P. R. L., Salsbury, G., Novoselova, T. V., van der Spuy, J., Chapple, J. P., Yu‐Wai‐Man, P., & Cheetham, M. E. (2021) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2021.08.015 · Cited by 47 · see citing works
Self-citationNew Insights into Mitochondria in Health and Diseases
Li, Y., Zhang, H., Yu, C., Dong, X., Yang, F., Wang, M., Wen, Z., Su, M., Li, B., & Yang, L. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25189975 · Cited by 46 · see citing works
Saluzzo, S., Pandey, R. V., Gail, L. M., Dingelmaier‐Hovorka, R., Kleißl, L., Shaw, L. E., Reininger, B., Atzmüller, D., Strobl, J., Touzeau‐Römer, V., et al. (2021) · Immunity · doi:10.1016/j.immuni.2021.10.021 · Cited by 44 · see citing works
Lam, B. L., Feuer, W. J., Davis, J. L., Porciatti, V., Yu, H., Levy, R. B., Vanner, E., & Guy, J. (2022) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2022.02.023 · Cited by 43 · see citing works
Modeling mitochondrial DNA diseases: from base editing to pluripotent stem‐cell‐derived organoids
Tolle, I., Tiranti, V., & Prigione, A. (2023) · EMBO Reports · doi:10.15252/embr.202255678 · Cited by 40 · see citing works
Gene therapy for primary mitochondrial diseases: experimental advances and clinical challenges
Falabella, M., Minczuk, M. A., Hanna, M. G., Viscomi, C. F., & Pitceathly, R. D. S. (2022) · Nature Reviews Neurology · doi:10.1038/s41582-022-00715-9 · Cited by 41 · see citing works
Developments in the Treatment of Leber Hereditary Optic Neuropathy
Chen, B. S., Yu‐Wai‐Man, P., & Newman, N. J. (2022) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-022-01246-y · Cited by 41 · see citing works
Self-citationMitochondria and the eye—manifestations of mitochondrial diseases and their management
Chen, B. S., Harvey, J. P., Gilhooley, M. J., Jurkutė, N., & Yu‐Wai‐Man, P. (2023) · Eye · doi:10.1038/s41433-023-02523-x · Cited by 39 · see citing works
Self-citationMitochondrial DNA disorders: from pathogenic variants to preventing transmission
Gomes, T. M. B., Ng, Y. S., Pickett, S. J., Turnbull, D. M., & Vincent, A. E. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab156 · Cited by 39 · see citing works
Biodistribution of intravitreal lenadogene nolparvovec gene therapy in nonhuman primates
Calkins, D. J., Yu-Wai-Man, P., Newman, N. J., Taiel, M., Singh, P., Chalmey, C., Rogue, A., Carelli, V., Ancian, P., & Sahel, J. A. (2021) · Molecular Therapy - Methods & Clinical Development · doi:10.1016/j.omtm.2021.09.013 · Cited by 37 · see citing works
Self-citationEndocrine Manifestations and New Developments in Mitochondrial Disease
Ng, Y. S., Lim, A. Z., Panagiotou, G., Turnbull, D. M., & Walker, M. (2021) · Endocrine Reviews · doi:10.1210/endrev/bnab036 · Cited by 37 · see citing works
Constable, P. A., Marmolejo‐Ramos, F., Gauthier, M., Lee, I., Skuse, D., & Thompson, D. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.890461 · Cited by 37 · see citing works
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm
Lenaers, G., Beaulieu, C., Charif, M., Gerber, S., Kaplan, J., & Rozet, J. (2023) · Brain · doi:10.1093/brain/awad131 · Cited by 37 · see citing works
Sobh, M., Lagali, P. S., Ghiasi, M., Montroy, J. R., Dollin, M. L., Hurley, B. R., Leonard, B. C., Dimopoulos, I. S., Lafreniere, M., Fergusson, D. A., et al. (2023) · Translational Vision Science & Technology · doi:10.1167/tvst.12.11.24 · Cited by 35 · see citing works
Gene therapy for mitochondrial disorders
Keshavan, N., Minczuk, M. A., Viscomi, C. F., & Rahman, S. (2024) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12699 · Cited by 36 · see citing works
Khatib, T. Z., Osborne, A., Yang, S., Ali, Z., Jia, W., Manyakin, I., Hall, K., Watt, R., Widdowson, P. S., & Martin, K. R. G. (2021) · Science Advances · doi:10.1126/sciadv.abd2590 · Cited by 35 · see citing works
Update on Clinical Trial Endpoints in Gene Therapy Trials for Inherited Retinal Diseases
Igoe, J., Lam, B. L., & Gregori, N. Z. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13185512 · Cited by 33 · see citing works
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy
Yu‐Wai‐Man, P., Newman, N. J., Biousse, V., Carelli, V., Moster, M. L., Vignal‐Clermont, C., Klopstock, T., Sadun, A. A., Sergott, R. C., Hage, R., et al. (2024) · JAMA Ophthalmology · doi:10.1001/jamaophthalmol.2024.5375 · Cited by 31 · see citing works
Self-citationA synthetic opsin restores vision in patients with severe retinal degeneration
Mohanty, S. K., Mahapatra, S., Batabyal, S., Carlson, M. E., Kanungo, G., Ayyagari, A. L., Tchedre, K. T., Franco, J. A., Singer, M. A., Barone, S. B., et al. (2025) · Molecular Therapy · doi:10.1016/j.ymthe.2025.03.031 · Cited by 41 · see citing works
Carelli, V., Newman, N. J., Yu‐Wai‐Man, P., Biousse, V., Moster, M. L., Subramanian, P. S., Vignal‐Clermont, C., Wang, A.-G., Donahue, S. P., Leroy, B. P., et al. (2022) · Ophthalmology and Therapy · doi:10.1007/s40123-022-00611-x · Cited by 29 · see citing works
Self-citationStrategies to improve safety profile of AAV vectors
Suoranta, T., Laham-Karam, N., & Ylä‐Herttuala, S. (2022) · Frontiers in Molecular Medicine · doi:10.3389/fmmed.2022.1054069 · Cited by 30 · see citing works
Leber’s hereditary optic neuropathy: Update on current diagnosis and treatment
Esmaeil, A., Ali, A., & Behbehani, R. S. (2023) · Frontiers in Ophthalmology · doi:10.3389/fopht.2022.1077395 · Cited by 28 · see citing works
Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy
Sahel, J., Newman, N. J., Yu‐Wai‐Man, P., Vignal‐Clermont, C., Carelli, V., Biousse, V., Moster, M. L., Sergott, R. C., Klopstock, T., Sadun, A. A., et al. (2021) · International Ophthalmology Clinics · doi:10.1097/iio.0000000000000364 · Cited by 28 · see citing works
Self-citationFerla, R., Dell’Aquila, F., Doria, M., Ferraiuolo, M. A., Noto, A., Grazioli, F., Ammendola, V., Testa, F., Melillo, P., Iodice, C., et al. (2023) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2023.02.002 · Cited by 29 · see citing works
VIGNAL-CLERMONT, C., YU-WAI-MAN, P., NEWMAN, N. J., CARELLI, V., MOSTER, M. L., BIOUSSE, V., SUBRAMANIAN, P. S., WANG, A.-G., DONAHUE, S. P., LEROY, B. P., et al. (2023) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2022.11.026 · Cited by 25 · see citing works
Self-citationCurrent and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy
Shamsnajafabadi, H., MacLaren, R. E., & Cehajic‐Kapetanovic, J. (2023) · Cells · doi:10.3390/cells12152013 · Cited by 25 · see citing works
Wang, Y., Yang, J.-S., Zhao, M., Chen, J., Xie, H.-X., Yu, H., Liu, N.-H., Yi, Z.-J., Liang, H., Xing, L., et al. (2024) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2024.115355 · Cited by 25 · see citing works
Harnessing Biomaterials and the Lymphatic System for ImmunomodulationPreprint
Alderfer, L., Hall, E., & Hanjaya‐Putra, D. (2020) · SSRN Electronic Journal · doi:10.1016/j.actbio.2021.06.006 · Cited by 26 · see citing works
Xu, N., Xu, T., Mirasol, R. V., Holmberg, L., Vincent, P. H., Li, X., Falk, A., Benedikz, E., Rotstein, E., Seiger, Å., et al. (2021) · Neurotherapeutics · doi:10.1007/s13311-020-00987-3 · Cited by 25 · see citing works
Purdy, R., John, M., Bray, A., Clare, A. J., Copland, D. A., Chan, Y. K., Henderson, R. H., Nerinckx, F., Leroy, B. P., Yang, P., et al. (2025) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2025.101354 · Cited by 24 · see citing works
Prostaglandin-based rAAV-mediated glaucoma gene therapy in Brown Norway rats
Chern, K. J., Nettesheim, E. R., Reid, C. A., Li, N. W., Marcoe, G. J., & Lipinski, D. M. (2022) · Communications Biology · doi:10.1038/s42003-022-04134-w · Cited by 24 · see citing works
Borrelli, E., Bandello, F. M., Boon, C. J. F., Carelli, V., Lenaers, G., Reibaldi, M., Sadda, S. R., Sadun, A. A., Sarraf, D., Yu‐Wai‐Man, P., et al. (2024) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2024.101264 · Cited by 25 · see citing works
Self-citationFrancis, D. M., Manspeaker, M. P., Archer, P. A., Sestito, L. F., Heiler, A. J., Schudel, A., & Thomas, S. N. (2021) · Biomaterials · doi:10.1016/j.biomaterials.2021.121184 · Cited by 24 · see citing works
OPA1 Dominant Optic Atrophy: Pathogenesis and Therapeutic Targets
Wong, D., Harvey, J. P., Jurkutė, N., Thomasy, S. M., Moosajee, M., Yu‐Wai‐Man, P., & Gilhooley, M. J. (2023) · Journal of Neuro-Ophthalmology · doi:10.1097/wno.0000000000001830 · Cited by 23 · see citing works
Self-citationAAV-vector based gene therapy for mitochondrial disease: progress and future perspectives
Hanaford, A. R., Cho, Y., & Nakai, H. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02324-7 · Cited by 23 · see citing works
Macken, W. L., Falabella, M., Pizzamiglio, C., Woodward, C. E., Scotchman, E., Chitty, L. S., Polke, J. M., Bugiardini, E., Hanna, M. G., Vandrovcová, J., et al. (2023) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2023.2241365 · Cited by 23 · see citing works
Wolfram syndrome: new pathophysiological insights and therapeutic strategies
Mishra, R., Chen, B. S., Richa, P., & Yu‐Wai‐Man, P. (2021) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040211039518 · Cited by 23 · see citing works
Self-citationMaulloo, C. D., Cao, S., Watkins, E. A., Raczy, M. M., Solanki, A., Nguyen, M., Reda, J. W., Shim, H.-N., Wilson, D. S., Swartz, M. A., et al. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.714842 · Cited by 20 · see citing works
Newman, N. J., Biousse, V., Yu‐Wai‐Man, P., Carelli, V., Vignal‐Clermont, C., Montestruc, F., Taiel, M., & Sahel, J. (2024) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2024.10.002 · Cited by 19 · see citing works
Self-citationWhite, K. A., Nelvagal, H. R., Poole, T. A., Lü, B., Johnson, T. B., Davis, S. S., Pratt, M. A., Brudvig, J. J., Assis, A. B., Likhite, S. B., et al. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.12.014 · Cited by 19 · see citing works
Liu, Y., Eastwood, J. D., Alba, D. E., Velmurugan, S., Sun, N., Porciatti, V., Lee, R. K., Hauswirth, W. W., Guy, J. R., & Yu, H. (2022) · Gene Therapy · doi:10.1038/s41434-022-00333-6 · Cited by 18 · see citing works
Devi, S. M., Abishek Kumar, B., Iyer, M., & Vellingiri, B. (2021) · Mitochondrion · doi:10.1016/j.mito.2021.08.013 · Cited by 18 · see citing works
The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease
Ji, M. H., Kreymerman, A., Belle, K. C., Ghiam, B. K., Muscat, S. P., Mahajan, V. B., Enns, G. M., Mercola, M. A., & Wood, E. H. (2021) · Translational Vision Science & Technology · doi:10.1167/tvst.10.8.4 · Cited by 17 · see citing works
Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects
Chow-Wing-Bom, H. T., Callaghan, M. F., Wang, J., Wei, S., Dick, F., Yu‐Wai‐Man, P., & Dekker, T. M. (2022) · NeuroImage Clinical · doi:10.1016/j.nicl.2022.103240 · Cited by 17 · see citing works
Self-citationSpiegel, S. J., & Sadun, A. A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms232113205 · Cited by 17 · see citing works
Self-citationLate-Onset Retinal Degeneration: Clinical Perspectives
Landó, L., & Borooah, S. (2022) · Clinical ophthalmology · doi:10.2147/opth.s362691 · Cited by 17 · see citing works
McGrady, N. R., Boal, A. M., Risner, M. L., Taiel, M., Sahel, J., & Calkins, D. J. (2023) · Molecular Therapy · doi:10.1016/j.ymthe.2023.03.035 · Cited by 16 · see citing works
Self-citationLam, B. L., Feuer, W. J., Porciatti, V., Davis, J. L., Zheng, D., Vanner, E. A., Savatovsky, E. J., Alba, D. E., & Guy, J. R. (2023) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2023.09.005 · Cited by 17 · see citing works
Therapies for Mitochondrial Disease: Past, Present, and Future
Ball, M., Bergen, N. J. V., Compton, A. G., Thorburn, D. R., Rahman, S., & Christodoulou, J. (2025) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.70065 · Cited by 15 · see citing works
Chen, J., Chen, C., Chen, J., Ji, Y., Lian, Y., Zhang, J., Yu, J., Li, X., Qu, J., & Guan, M. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad001 · Cited by 15 · see citing works
From Transcriptomics to Treatment in Inherited Optic Neuropathies
Gilhooley, M. J., Owen, N., Moosajee, M., & Yu‐Wai‐Man, P. (2021) · Genes · doi:10.3390/genes12020147 · Cited by 16 · see citing works
Self-citationGene Therapy for Inherited Retinal Disorders: Update on Clinical Trials
Michalakis, S., Gerhardt, M. J., Rudolph, G., Priglinger, S. G., & Priglinger, C. (2021) · Klinische Monatsblätter für Augenheilkunde · doi:10.1055/a-1384-0818 · Cited by 15 · see citing works
Self-citationPeron, C., Maresca, A., Cavaliere, A., Iannielli, A., Broccoli, V., Carelli, V., Meo, I. D., & Tiranti, V. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.648916 · Cited by 11 · see citing works
Self-citationScaffold-free and scaffold-based cellular strategies and opportunities for cornea tissue engineering
Hussain, Z., & Pei, R. (2021) · Progress in Biomedical Engineering · doi:10.1088/2516-1091/ac12d7 · Cited by 15 · see citing works
Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?
Conti, F., Martino, S. D., Drago, F., Bucolo, C., Micale, V., Montano, V., Siciliano, G., Mancuso, M., & Lopriore, P. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms242316746 · Cited by 14 · see citing works
Thomas, R. H., Hunter, A., Butterworth, L., Feeney, C. L., Graves, T. D., Holmes, S. L., Hossain, P., Lowndes, J., Sharpe, J. A., Upadhyaya, S., et al. (2022) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12521 · Cited by 14 · see citing works
The clinical safety landscape for ocular AAV gene therapies: A systematic review and meta-analysis
Liu, Z., Zhang, H., Jia, H., Wang, H., Huang, Z., Tang, Y., Wang, Z., Hu, J., Zhao, X., Li, T., et al. (2025) · iScience · doi:10.1016/j.isci.2025.112265 · Cited by 15 · see citing works
Cruz-Pavlovich, F. J. S., Bolaños-Chang, A. J., Rio-Murillo, X. I. D., Aranda-Preciado, G. A., Razura-Ruiz, E. M., Santos, A., & Navarro‐Partida, J. (2024) · Cells · doi:10.3390/cells13020179 · Cited by 13 · see citing works
Leber hereditary optic neuropathy: new and emerging therapies
Davila-Siliezar, P. A., Carter, M. W., Miléa, D., & Lee, A. G. (2022) · Current Opinion in Ophthalmology · doi:10.1097/icu.0000000000000891 · Cited by 13 · see citing works
Chen, X., Chen, M., Zhu, Y., Sun, H., Wang, Y., Xie, Y., Ji, L., Wang, C., Hu, Z., Guo, X., et al. (2023) · Communications Biology · doi:10.1038/s42003-023-05500-y · Cited by 13 · see citing works
Gilmore, W. B., Hultgren, N. W., Chadha, A., Barocio, S. B., Zhang, J., Kutsyr, O., Flores‐Bellver, M., Canto-Soler, M. V., & Williams, D. S. (2023) · Vision Research · doi:10.1016/j.visres.2023.108311 · Cited by 12 · see citing works
Current progress in the therapeutic options for mitochondrial disorders.
Koňaříková, E., Markovic, A., Korandová, Z., Houštěk, J., & Mráček, T. (2020) · Physiological Research · doi:10.33549/physiolres.934529 · Cited by 13 · see citing works
Therapeutic landscape for inherited ocular diseases: current and emerging therapies
Chan, H. W., Oh, J., & Leroy, B. P. (2023) · Singapore Medical Journal · doi:10.4103/singaporemedj.smj-2022-179 · Cited by 12 · see citing works
Gene Therapy: A Possible Alternative to CFTR Modulators?
Mercier, J., Ruffin, M., Corvol, H., & Guillot, L. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.648203 · Cited by 12 · see citing works
From Bench to Bedside—Delivering Gene Therapy for Leber Hereditary Optic NeuropathyPreprint
Chen, B. S., & Yu‐Wai‐Man, P. (2022) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a041282 · Cited by 12 · see citing works
Self-citationClinical trials in Leber hereditary optic neuropathy: outcomes and opportunities
Chen, B. S., & Newman, N. J. (2024) · Current Opinion in Neurology · doi:10.1097/wco.0000000000001343 · Cited by 11 · see citing works
Self-citationStephenson, K. A. J., McAndrew, J., Kenna, P. F., & Cassidy, L. (2022) · Neuro-Ophthalmology · doi:10.1080/01658107.2022.2032761 · Cited by 11 · see citing works
- 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
- 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 › 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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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