Conference Agenda

Clinical trials for Leber hereditary optic neuropathy

Nancy J. Newman

Emory University School of Medicine, United States of America

Development of deoxynucleoside therapy for mitochondrial DNA depletion/deletions syndrome

Michio Hirano¹, Caterina Garone², Carlos López-Gomez³, Cristina Domínguez-Gónzalez⁴, Ramon Martí⁵, Agustin Hidalgo-Gutierrez¹

¹Columbia University Irving Medical Center, New York, USA, United States of America; ²University of Bologna, Bologna, Italy; ³Univerity of Malaga, Malaga, Spain; ⁴University Hospital, 12 de Octubre, Madrid, Spain; ⁵Vall d’Hebron Institut de Recerca, Barcelona, Spain

Histopathological and molecular characterization in ocular post-mortem analyses following AAV2 gene therapy for LHON

Valerio Carelli¹, Leonardo Caporali¹, Fred Ross-Cisneros², Elisa Boschetti³, Nancy J. Newman⁴, Valérie Biousse⁴, Henry Liu⁵, Philippe Ancian⁶, Magali Taiel⁷, Alfredo A. Sadun²

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; ²Doheny Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA; ³IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; ⁴Departments of Ophthalmology, Neurology and Neurological Surgery, Emory University School of Medicine, Atlanta, GA, USA; ⁵Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada; ⁶Charles River Laboratories, Evreux, France; ⁷Gensight Biologics, Paris, France

Combatting myopathy in m.3243A>G mutation carriers: first in human transplantation of autologous mesoangioblasts

Florence H.J. van Tienen^1,2, Janneke G.J. Hoeijmakers^2,3, Christiaan van der Leij^4,5, Erika Timmer^1,5, Nikki Wanders^1,2, Fong Lin⁶, Susanne P.M. Kortekaas⁶, Inge M. Westra⁶, Pauline Meij⁶, Appie Wijnen⁷, Wouter M.A. Franssen⁸, Bert O. Eijnde⁸, Catharina G. Faber^2,3, Irenaeus F.M. de Coo^1,2,9, Hubert J.M. Smeets^1,2,5

¹Department of Toxicogenomics, Maastricht University Medical Centre+, Maastricht, The Netherlands; ²School for Mental Health and Neurosciences (MHeNS), Maastricht University Medical Centre+, Maastricht, The Netherlands; ³Department of Neurology, Maastricht University Medical Centre+, Maastricht, The Netherlands; ⁴Department of Radiology, Maastricht University Medical Centre+, Maastricht, The Netherlands; ⁵School for Developmental Biology and Oncology (GROW), Maastricht University Medical Centre+, Maastricht, The Netherlands; ⁶Center for Cell and Gene Therapy (CCG), Leiden University Medical Center, Leiden, The Netherlands; ⁷Department of Rehabilitation Medicine, Maastricht University Medical Centre+, Maastricht, The Netherlands; ⁸SMRC – Sports Medicine Research Center, BIOMED - Biomedical Research Institute, Faculty of Medicine and Life Sciences, Hasselt University, Diepenbeek, Belgium; ⁹Neuromuscular and Mitochondrial research center (NeMo), Rotterdam/Maastricht, The Netherlands

PHEMI: Phenylbutyrate Therapy in Mitochondrial Diseases with lactic acidosis: an open label clinical trial in MELAS and PDH deficiency patients.

Silvia Marchet¹, Anna Ardissone², Krisztina Einvag¹, Daniele Sala¹, Eleonora Lamantea¹, Giulia Cecchi³, Vincenzo Montano³, Piervito Lopriore³, Maria Pia Iermito¹, Michelangelo Mancuso³, Costanza Lamperti¹

¹Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Experimental Neuroscience, Unit of Medical Genetics and Neurogenetics, Milan, Italy; ²Fondazione IRCCS Istituto Neurologico Carlo Besta, Department of Pediatric Neurosciences, Milan, Italy; ³Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Niacin treatment improves metabolic changes in early-stage mitochondrial myopathy

Kimmo Haimilahti^1,2, Lilli Pihlajamäki¹, Mari Auranen³, Niina Urho³, Päivi Piirilä⁴, Antti Hakkarainen⁵, Min Ni⁶, Kirsi Pietiläinen^7,8, Ralph DeBerardinis⁶, Nahid A. Khan¹, Anu Suomalainen^1,9

¹Research Program for Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; ²Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; ³Department of Neurosciences, Helsinki University Hospital, Helsinki, Finland; ⁴Department of Clinical Physiology and Nuclear Medicine, Laboratory of Clinical Physiology, Helsinki University Hospital, Helsinki, Finland; ⁵HUS Diagnostic Center, Radiology, Helsinki University and Helsinki University Hospital, Helsinki, Finland; ⁶Children’s Research Institute, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America; ⁷Obesity Research Unit, Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland; ⁸Healthy Weight Hub, Abdominal Center, Endocrinology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland; ⁹Helsinki University Hospital Diagnostic Centre, Helsinki, Finland

Use of lenadogene nolparvovec gene therapy for Leber hereditary optic neuropathy in early access programs

Chiara La Morgia¹, Catherine Vignal-Clermont², Valerio Carelli¹, Michele Carbonelli²³, Rabih Hage³, Mark L. Moster⁴, Robert C. Sergott⁴, Sean P. Donahue⁵, Patrick Yu-Wai-Man⁶, Hélène Dollfus⁷, Thomas Klopstock⁸, Claudia Priglinger⁹, Vasily Smirnov¹⁰, Giulia Amore²³, Martina Romagnoli¹, Catherine Cochard¹¹, Marie-Benedicte Rougier¹², Emilie Tournaire-Marques¹², Pierre Lebranchu¹³, Caroline Froment¹⁴, Frederic Pollet-Villard¹⁵, Marie-Alice Laville¹⁶, Claudia Prospero Ponce¹⁷, Scott D. Walter¹⁸, Francis Munier¹⁹, Pauline Zoppe²⁰, Michel Roux²¹, Magali Taiel²¹, José-Alain Sahel²²

¹IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy; ²Department of Neuro Ophthalmology and Emergencies, Rothschild Foundation Hospital, Paris, France; ³Centre Hospitalier National d’Ophtalmologie des Quinze Vingts, Paris, France; ⁴Departments of Neurology and Ophthalmology, Wills Eye Hospital and Thomas Jefferson University, Philadelphia, PA, USA; ⁵Department of Ophthalmology, Neurology, and Pediatrics, Vanderbilt University, and Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, TN, USA; ⁶Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK; ⁷Institut de Génétique Médicale d’Alsace, CHU de Strasbourg, Strasbourg, France; ⁸Friedrich-Baur-Institute, University Hospital, Ludwig-Maximilians-University, Munich, Germany; ⁹University Hospital, Ludwig-Maximilians-University, Munich, Germany; ¹⁰Service Explorations de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France; ¹¹Service d'Ophtalmologie, CHU de Rennes, Rennes, France; ¹²Service d'Ophtalmologie, CHU de Bordeaux, Groupe Hospitalier Pellegrin, Bordeaux, France; ¹³Service d'Ophtalmologie, CHU de Nantes, Nantes, France; ¹⁴Service de Neuro-Cognition et Neuro-Ophtalmologie, CHU de Lyon, Lyon, France; ¹⁵Service d'Ophtalmologie, Centre Hospitalier de Valence, Valence, France; ¹⁶Service d'Ophtalmologie, CHU de Caen, Caen, France; ¹⁷Department of Ophthalmology, Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas, USA; ¹⁸Retina Consultants, P.C, Hartford, Connecticut, USA; ¹⁹Service d'Ophtalmologie, Hôpital Ophtalmique Jules-Gonin, Lausanne, Switzerland; ²⁰Centre Hospitalier de Wallonie Picarde, Tournai, Belgium; ²¹GenSight Biologics, Paris, France; ²²Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France; ²³Department of Biomedical and Neuromotor Sciences, DIBINEM, Bologna, Italy