% IMPORTANT: The following is UTF-8 encoded. This means that in the presence % of non-ASCII characters, it will not work with BibTeX 0.99 or older. % Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or % “biber”. @ARTICLE{Carelli:259705, author = {Carelli, Valerio and Newman, Nancy J. and Yu-Wai-Man, Patrick and Biousse, Valerie and Moster, Mark L. and Subramanian, Prem S. and Vignal-Clermont, Catherine and Wang, An-Guor and Donahue, Sean P. and Leroy, Bart P. and Sergott, Robert C. and Klopstock, Thomas and Sadun, Alfredo A. and Rebolleda Fernández, Gema and Chwalisz, Bart K. and Banik, Rudrani and Girmens, Jean François and La Morgia, Chiara and DeBusk, Adam A. and Jurkute, Neringa and Priglinger, Claudia and Karanjia, Rustum and Josse, Constant and Salzmann, Julie and Montestruc, François and Roux, Michel and Taiel, Magali and Sahel, José-Alain and Carelli, Valerio and Barboni, Piero and Carbonelli, Michele and Di Vito, Lidia and Amore, Giulia and Contin, Manuela and Mohamed, Susan and La Morgia, Chiara and Silvestri, Sara and D’Agati, Pietro and Newman, Nancy J and Biousse, Valérie and Hubbard, George Baker and O’Keefe, Ghazala and Hendrick, Andrew M. and Dattilo, Michael and Peragallo, Jason H. and Hawy, Eman and DuBois, Lindreth and Gibbs, Deborah and Filho, Alcides Fernandes and Dobbs, Jannah and Yu-Wai-Man, Patrick and Acheson, James and Boston, Hayley and Eleftheriadou, Maria and Esposti, Simona and Gemenetzi, Maria and Leitch-Devlin, Lauren and Tucker, William R. and Jurkute, Neringa and Burale, Asma and Anand, Shweta and Memon, Muhammad A. and Hussain, Rima and Jorany, Rasha and Sheel, Priyansha and Moster, Mark L. and Sergott, Robert C. and SantaMaria, Melissa and Tollis, Heather and DeBusk, Adam A and Haller, Julia A. and Massini, Maria and Subramanian, Prem S. and Pecen, Paula and Mathias, Marc and Preston, Mary and Cho, Steve and Sahel, José A. and Vignal-Clermont, Catherine and Girmens, Jean François and Hage, Rabih and Plaine, Lise and Khemliche, Wahiba and Wang, An-Guor and Cheng, Hui-Chen and Chen, Celia and Hwang, Jeong-Min and Sun, Chuanbin and Donahue, Sean and Patel, Shriji and Gangaputra, Sapna and Barrett, Megan and Ruark, Scott and Wilkins, Saige and Leroy, Bart P. and De Zaeytijd, Julie and Van Cauwenbergh, Caroline and Verhauwen, Hilde and Klopstock, Thomas and Catarino, Claudia B. and Priglinger, Claudia and Priglinger, Siegfried and Rudolph, Günther and von Livonius Bettina, Stephan Thurau and Muth, Daniel and Wolf, Armin and Al-Tamami, Jasmina and Pressler, Angelika and Schertler, Cosima and Hildebrandt, Martin and Neuenhahn, Michael and Sadun, Alfredo A. and Heilweil, Gad and Karanjia, Rustum and Tsui, Irena and Rebolleda Fernández, Gema and Urquijo, Laia Jaumendreu and Negrete Muñoz, Francisco J. and Fortin, Elizabeth and Chwalisz, Bart K. and Cestari, Dean and Banik, Rudrani and Tai, Katy and Castillo, Lorena and Garcia, Virginia and Bandello, Antonio Morilla Francesco and Barboni, Piero and Cascavilla, Maria Lucia and Battista, Marco and Calcagno, Francesca and Pina, Adelaide and Leruez, Stéphanie and Forooza, Rod}, title = {{I}ndirect {C}omparison of {L}enadogene {N}olparvovec {G}ene {T}herapy {V}ersus {N}atural {H}istory in {P}atients with {L}eber {H}ereditary {O}ptic {N}europathy {C}arrying the $m.11778{G}\>{A}$ {MT}-{ND}4 {M}utation}, journal = {Ophthalmology and therapy}, volume = {12}, number = {1}, issn = {2193-6528}, address = {Heidelberg}, publisher = {SpringerOpen}, reportid = {DZNE-2023-00777}, pages = {401 - 429}, year = {2023}, abstract = {Lenadogene nolparvovec is a promising novel gene therapy for patients with Leber hereditary optic neuropathy (LHON) carrying the m.11778G>A ND4 mutation (MT-ND4). A previous pooled analysis of phase 3 studies showed an improvement in visual acuity of patients injected with lenadogene nolparvovec compared to natural history. Here, we report updated results by incorporating data from the latest phase 3 trial REFLECT in the pool, increasing the number of treated patients from 76 to 174.The visual acuity of 174 MT-ND4-carrying patients with LHON injected in one or both eyes with lenadogene nolparvovec from four pooled phase 3 studies (REVERSE, RESCUE and their long-term extension trial RESTORE; and REFLECT trial) was compared to the spontaneous evolution of an external control group of 208 matched patients from 11 natural history studies.Treated patients showed a clinically relevant and sustained improvement in their visual acuity when compared to natural history. Mean improvement versus natural history was - 0.30 logMAR (+ 15 ETDRS letters equivalent) at last observation (P < 0.01) with a maximal follow-up of 3.9 years after injection. Most treated eyes were on-chart as compared to less than half of natural history eyes at 48 months after vision loss $(89.6\%$ versus $48.1\%;$ P < 0.01) and at last observation $(76.1\%$ versus $44.4\%;$ P < 0.01). When we adjusted for covariates of interest (gender, age of onset, ethnicity, and duration of follow-up), the estimated mean gain was - 0.43 logMAR (+ 21.5 ETDRS letters equivalent) versus natural history at last observation (P < 0.0001). Treatment effect was consistent across all phase 3 clinical trials. Analyses from REFLECT suggest a larger treatment effect in patients receiving bilateral injection compared to unilateral injection.The efficacy of lenadogene nolparvovec in improving visual acuity in MT-ND4 LHON was confirmed in a large cohort of patients, compared to the spontaneous natural history decline. Bilateral injection of gene therapy may offer added benefits over unilateral injection.NCT02652780 (REVERSE); NCT02652767 (RESCUE); NCT03406104 (RESTORE); NCT03293524 (REFLECT); NCT03295071 (REALITY).}, keywords = {Gene therapy (Other) / LHON (Other) / Leber hereditary optic neuropathy (Other) / MT-ND4 (Other) / Natural history (Other) / Visual acuity (Other)}, cin = {Clinical Research (Munich)}, ddc = {610}, cid = {I:(DE-2719)1111015}, pnm = {353 - Clinical and Health Care Research (POF4-353)}, pid = {G:(DE-HGF)POF4-353}, typ = {PUB:(DE-HGF)16}, pubmed = {PMID:36449262}, pmc = {PMC:PMC9834474}, doi = {10.1007/s40123-022-00611-x}, url = {https://pub.dzne.de/record/259705}, }