Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy.

Autor: Yu-Wai-Man P; Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Newman NJ; Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia.; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia., Biousse V; Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia.; Department of Neurology, Emory University School of Medicine, Atlanta, Georgia., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Unit of Neurology, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Moster ML; Department of Neurology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, Pennsylvania.; Department of Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, Pennsylvania., Vignal-Clermont C; Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France.; Centre Hospitalier National D'Ophtalmologie des Quinze Vingts, Paris, France., Klopstock T; Friedrich-Baur-Institute, Department of Neurology, University Hospital, Ludwig-Maximilians University, Munich, Germany.; German Center for Neurodegenerative Diseases, Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Sadun AA; Doheny Eye Institute, UCLA School of Medicine, Los Angeles, California., Sergott RC; Department of Neurology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, Pennsylvania.; Department of Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, Pennsylvania., Hage R; Centre Hospitalier National D'Ophtalmologie des Quinze Vingts, Paris, France., Degli Esposti S; Moorfields Eye Hospital, London, United Kingdom.; UCL Institute of Ophthalmology, University College London, London, United Kingdom., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Unit of Neurology, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Priglinger C; Department of Ophthalmology, University Hospital, Ludwig-Maximilians-University, Munich, Germany., Karanja R; Department of Ophthalmology, University of Ottawa Eye, Ottawa, Ontario, Canada., Taiel M; GenSight Biologics, Paris, France., Sahel JA; Centre Hospitalier National D'Ophtalmologie des Quinze Vingts, Paris, France.; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Fondation Ophtalmologique A. de Rothschild, Paris, France.; Department of Ophthalmology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.

Publikováno v: JAMA ophthalmology [JAMA Ophthalmol] 2024 Dec 19. Date of Electronic Publication: 2024 Dec 19.

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy-Response to Dr. Finsterer's Letter.

Autor: Catarino CB; Department of Neurology (CBC, TK), Friedrich-Baur-Institute, University Hospital of the Ludwig-Maximilians-University, Munich, Germany; German Center for Neurodegenerative Diseases (DZNE) (TK), Munich, Germany; Department of Ophthalmology (BL, CP, GR), University Hospital of the Ludwig-Maximilians-University Munich, Munich, Germany; Department of Ophthalmology (KL), University Hospital and University of Zurich, Zurich, Switzerland; Emory University School of Medicine (NJN), Atlanta, Georgia; and School of Optometry and Vision Sciences (MV), Cardiff University, Cardiff, United Kingdom., von Livonius B, Priglinger C, Landau K, Newman NJ, Votruba M, Rudolph G, Klopstock T

Publikováno v: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2023 Sep 01; Vol. 43 (3), pp. e96. Date of Electronic Publication: 2021 Aug 06.

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.

Autor: Yu-Wai-Man P; John van Geest Centre for Brain Repair, University of Cambridge, Cambridge CB2 0PY, UK; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0XY, UK; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Carelli V; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Newman NJ; Departments of Ophthalmology, Neurology, and Neurological Surgery, Emory University School of Medicine, Atlanta, GA 30322, USA., Silva MJ; All is Data, 4052 Basel, Switzerland., Linden A; EstiMates Oy, 20520 Turku, Finland., Van Stavern G; Washington University in St. Louis, St. Louis, MO 63130, USA., Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, 02-091 Warsaw, Poland; SPKSO Ophthalmic University Hospital, 00-576 Warsaw, Poland., Banik R; New York Eye and Ear Infirmary of Mount Sinai, New York, NY 10003, USA., Lubiński W; Samodzielny Publiczny Szpital Kliniczny Nr 2 PUM w Szczecinie, 70-111 Szczecin, Poland., Pemp B; Department of Ophthalmology, Medical University of Vienna, 1090 Vienna, Austria., Liao YJ; Stanford University Byers Eye Institute, Palo Alto, CA 94303, USA., Subramanian PS; Sue Anschutz-Rodgers University of Colorado Eye Center, Aurora, CO 80045, USA., Misiuk-Hojło M; Wrocław Medical University, 50-556 Wrocław, Poland., Newman S; University of Virginia, Charlottesville, VA 22903, USA., Castillo L; Institut Catala de Retina (ICR), 08022 Barcelona, Spain., Kocięcki J; Department of Ophthalmology, University of Medical Sciences, 60-806 Poznan, Poland., Levin MH; Department of Ophthalmology, Palo Alto Medical Foundation, Palo Alto, CA 94303, USA., Muñoz-Negrete FJ; Hospital Universitario Ramon y Cajal, IRYCIS, Universidad Alcalá, 28034 Madrid, Spain., Yagan A; Manchester Royal Eye Hospital, Manchester M13 9WL, UK., Cherninkova S; UMHAT 'Alexandrovska' EAD, 1431 Sofia, Bulgaria., Katz D; Bethesda Neurology LLC, Bethesda, MD 20852, USA., Meunier A; Department of Ophthalmology, CHU Saint-Pierre, 1000 Brussels, Belgium., Votruba M; Cardiff Eye Unit, University Hospital of Wales, Cardiff CF14 4XW, UK., Korwin M; Department of Ophthalmology, Medical University of Warsaw, 02-091 Warsaw, Poland; SPKSO Ophthalmic University Hospital, 00-576 Warsaw, Poland., Dziedziak J; Department of Ophthalmology, Medical University of Warsaw, 02-091 Warsaw, Poland; SPKSO Ophthalmic University Hospital, 00-576 Warsaw, Poland; Department of Experimental and Clinical Physiology, Center for Preclinical Research, Medical University of Warsaw, 02-097 Warsaw, Poland., Jurkutė N; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK; The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London WC1N 3BG, UK., Harvey JP; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., La Morgia C; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, 40139 Bologna, Italy., Priglinger C; Department of Ophthalmology, University Hospital of the Ludwig-Maximilians-University (LMU), 80336 Munich, Germany., Llòria X; Chiesi Farmaceutici S.p.A., 43100 Parma, Italy., Tomasso L; Chiesi Farmaceutici S.p.A., 43100 Parma, Italy., Klopstock T; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany. Electronic address: thomas.klopstock@med.uni-muenchen.de.

Publikováno v: Cell reports. Medicine [Cell Rep Med] 2024 Mar 19; Vol. 5 (3), pp. 101437. Date of Electronic Publication: 2024 Feb 29.

RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.

Autor: Stingl K; University Eye Hospital, Center for Ophthalmology, University of Tübingen, Germany., Priglinger C; Department of Ophthalmology, Ludwig-Maximilians-Univerity Hospital, LMU Munich, Germany., Herrmann P; University Eye Hospital Bonn, University Hospital Bonn, Germany.

Publikováno v: Klinische Monatsblatter fur Augenheilkunde [Klin Monbl Augenheilkd] 2024 Mar; Vol. 241 (3), pp. 259-265. Date of Electronic Publication: 2024 Mar 20.

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.

Autor: Aleo SJ; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Del Dotto V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Romagnoli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Fiorini C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Capirossi G; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Peron C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Capristo M; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Tropeano CV; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy., Zanna C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Ross-Cisneros FN; Doheny Eye Institute, Pasadena, CA, USA., Sadun AA; Doheny Eye Institute, Pasadena, CA, USA; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA., Pignataro MG; Departments of Radiology, Oncology, and Pathology, Sapienza, University of Rome, Rome, Italy., Giordano C; Departments of Radiology, Oncology, and Pathology, Sapienza, University of Rome, Rome, Italy., Fasano C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Cavaliere A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Porcelli AM; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Tioli G; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Musiani F; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Catania A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Marzoli SB; Neuro-Ophthalmology Center and Ocular Electrophysiology Laboratory, IRCCS Istituto Auxologico Italiano, Capitanio Hospital, Milan, Italy., De Negri A; Azienda Ospedaliera San Camillo-Forlanini, Roma, Italy., Cascavilla ML; Scientific Institute San Raffaele, Milan, Italy., Battista M; Scientific Institute San Raffaele, Milan, Italy., Barboni P; Scientific Institute San Raffaele, Milan, Italy., Carbonelli M; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Amore G; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Smirnov D; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Vasilescu C; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Farzeen A; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Blickhaeuser B; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Prokisch H; Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Munich, Germany., Priglinger C; Department of Ophthalmology, LMU University Hospital, LMU Munich, Munich, Germany., Livonius B; Department of Ophthalmology, LMU University Hospital, LMU Munich, Munich, Germany., Catarino CB; Department of Neurology, Friedrich Baur Institute, LMU Klinikum, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany., Klopstock T; Department of Neurology, Friedrich Baur Institute, LMU Klinikum, University Hospital of the Ludwig-Maximilians-Universität München, Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany., Tiranti V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. Electronic address: valerio.carelli@unibo.it., Ghelli AM; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; Departments of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy. Electronic address: annamaria.ghelli@unibo.it.

Publikováno v: Cell reports. Medicine [Cell Rep Med] 2024 Feb 20; Vol. 5 (2), pp. 101383. Date of Electronic Publication: 2024 Jan 24.