Mitochondrial Diseases Conference 2021
Virtual Meeting
October 15-16, 2021
Watch the videos of the presentations
The Mitochondrial Diseases Conference 2021, organized by Mitocon, was held virtually on October 9-10, 2021. With the participation of 30 international speakers and people from more than 40 countries, the Mitochondrial Diseases Conference 2021 has brought together physicians, researchers, local mitochondrial patient associations, and representatives of pharma industries, and has been a unique opportunity to discuss and update on current understandings of mitochondrial diseases and pathways towards diagnosis and treatment.
Mitochondrial diseases are very complex disorders, still little known by the scientific community, with multi-system manifestations and different ages of onset, ranging from infancy to adulthood. In recent years, giant steps have been taken in the study of the basic mechanisms involved in these diseases and we have finally moved from the diagnosis to the study of possible treatments.
The program, drawn up in collaboration with Mitocon’s Scientific Committee, has been designed to inspire the integration of technology and innovation into medical practice. We discussed about the natural history of some devastating mitochondrial diseases, and exciting new models to treat these diseases.
A very important session was dedicated to the research of therapies, with a specific focus on an update on current clinical trials and a round table with the most active industries in the field. It has been a unique opportunity for discussion between clinicians and industry and a real possibility for new collaborations. Finally, a round table with different Patients Advocacy Organizations was organized, to give voice to patients’ needs.
To ensure the dissemination of the scientific content of the event, the conference was organized online and in English, and participation was free. Most of the speakers’ speeches were recorded and made available on Mitocon’s website.
PROGRAMME
Friday, October 15th
9.00 am-9.30 am Opening
Marco Marmotta, President, Mitocon – Insieme per lo Studio e la Cura delle Malattie Mitocondriali ODV
Michelangelo Mancuso, AOUP, Neurological Institute, University of Pisa, Pisa, Italy
Video: Mitochondrial Disease Patients’ Stories
9.30 am-11.40 am Session 1: New insights on the mitochondrial domains
Chairmen
Valerio Carelli, IRCCS Institute of Neurological Sciences (ISBN), Bellaria Hospital, University of Bologna, Bologna, Italy
Olimpia Musumeci, AOU Policlinico G.Martino, University of Messina, Messina, Italy
Speakers
- Alessandro Prigione, University Children’s Hospital, Heinrich-Heine-University, Düsseldorf, Germany – Modelling Leigh syndrome with patient-specific brain organoids
- Valeria Tiranti, Division of Medical Genetics and Neurogenetics, Mariani Foundation Center for the Study of Mitochondrial Pediatric Diseases, Foundation IRCCS Neurological Institute “C. Besta”, Milan, Italy – Reproducing Leber’s hereditary optic neuropathy in iPSCs derived models
- Thomas Klopstock, Ludwig-Maximilians-University of Munich, Munich, Germany – Update on mitochondrial optic neuropathies
- Holger Prokisch, PhD, Head of the research group “Genetics of Mitochondrial Disorders” at the Institute of Human Genetic of the Technical University Munich and of the Helmholtz Zentrum München, Dissecting genetics and pathophysiology of mitochondrial diseases by multi-layered omics
- Q&A
11.40 am-11.50 am Break
11.50 pm-12.50 pm Keynote lecture
Introduction: Massimo Zeviani, Department of Neurosciences, University of Padua, Padua, Italy
- Leonid Sazanov, Institute of Science and Technology, Austria – Structure and (mal)function of the respiratory chain
12.50 pm-2.00 pm Lunch break
2.00 pm-4.10 pm Session 2: Translation from the lab to the clinical practice
Chairmen
Valeria Tiranti, Division of Medical Genetics and Neurogenetics, Mariani Foundation Center for the Study of Mitochondrial Pediatric Diseases, Foundation IRCCS Neurological Institute “C. Besta”, Milan, Italy
Enrico Bertini, Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Research Hospital, Rome, Italy
Speakers
- Carlo Viscomi, University of Padova, Padova, Italy – Mitochondrial diseases: from mechanisms to therapies.
- Alberto Burlina, U.O.C. Malattie Metaboliche Ereditarie, A.O.U University of Padova, Padova Italy – Neonatal screening for mitochondrial diseases: a new frontier
- Carlos Moraes, University of Miami, Miller School of Medicine, USA – Mitochondrial targeted meganucleases for gene therapy of mtDNA diseases.
- Michio Hirano, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, USA – New approaches to TK2 deficiency
- Q&A
4.10 pm – 4.20 pm Break
4.20 pm -6.30 pm Session 3: Exploring phenotypes
Chairmen
Massimiliano Filosto, NeMO Clinical Center-Brescia for Neuromuscolar Diseases; Department of Clinical and Experimental Sciences, University of Brescia; Brescia, Italy
Costanza Lamperti, Division of Medical Genetics and Neurogenetics, Mariani Foundation Center for the Study of Mitochondrial Pediatric Diseases, Foundation IRCCS Neurological Institute C. Besta, Milan, Italy
Speakers
- Giovanni Manfredi, Weill Cornell Medical College, USA – Metabolic stress response in mitochondrial cardiomyopathy
- Laurence A. Bindoff Helse, Neuro-SysMed, Center of Excellence for Clinical Research in Neurological Diseases, Department of Neurology, Haukeland University Hospital, & Department of Clinical Medicine, University of Bergen, Bergen, Norway – Studying mechanisms involved in POLG related disease and the use of stem cell models
- Grainne Gorman, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK – MERRF: trial readiness initiatives
- Shamima Rahman, UCL GOS Institute of Child Health, UK, Leigh syndrome – exploring genotypes and phenotypes
- Q&A
6.30 pm End of day 1
Saturday October 16th
9.00 am -11.30 am Session 4: Challenges and pitfalls in clinical trials design – Flash presentations and round table discussion
Chairmen
Michelangelo Mancuso, AOUP, Neurological Institute, University of Pisa, Pisa, Italy
Serenella Servidei, Neurology Institute, Catholic University of the Sacred Heart, Rome, Italy
Speakers
- Jan Smeitink, Chief Executive Officer, Khondrion BV
- Anthony Abbruscato, Senior Director, Clinical Development, Stealth BioTherapeutics
- Magnus Hansson, Chief Medical Officer, VP preclinical & clinical development, Abliva AB
- Madhu Davies, Medical Director, Reneo Pharma Ltd
- Salvatore Funiciello, Medical Director Italy, Zogenix
- John C. Campbell, Head US Clinical Development, Minovia Therapeutics
- Xavier Llòria, MD Medical Lead, Rare Diseases, Chiesi Farmaceutici
- Magali Taiel, Chief Medical Officer, Gensight-Biologics
- Matthew Klein, Chief Development Officer, PTC Therapeutics
- Q&A
11.30 am -11.40 am Break
11.40 am – 1.30 pm Session 5: Patients voice and their needs
Chairmen:
Piero Santantonio, Past President, Mitocon – Insieme per lo Studio e la Cura delle Malattie Mitocondriali ODV
Kira Mann, Chief Executive Officer, MitoAction and Chair, International Mito Patients (IMP)
Speakers
- Piero Santantonio, Past President, Mitocon – Insieme per lo Studio e la Cura delle Malattie Mitocondriali ODV – The role of PAGs
- Kira Mann, Chief Executive Officer, MitoAction and Chair, International Mito Patients (IMP) – The role of International Mito Patient, IMP
- Catherine Mulvale, Chief Development Officer, MitoCanada – Bridging the Gap, the Importance of Advocacy and Education
- Lyndsey Butterworth, Science Communication, The Lily Foundation – Prenatal diagnosis and assisted motherhood
- Philip Yeske, Science & Alliance Officer, United Mitochondrial Disease Foundation (UMDF) – International Mitochondrial Patient’s Registry
- Sean Murray, CEO, Mito Foundation – Methods of supporting research
- Emma Del Rey, President, AMMI Association contre les Maladies Mitochondriales – Patient’s voice and their need
- Grainne Gorman,Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK – Michelangelo Mancuso, AOUP, Neurological Institute, University of Pisa, Italy – What do physicians and scientists expect from PAGs
- Q&A
1.30 pm End of day 2
Scientific programme committee
- Enrico Bertini, Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Research Hospital, Rome
- Valerio Carelli, IRCCS Institute of Neurological Sciences (ISBN), Bellaria Hospital, Bologna/University of Bologna
- Massimiliano Filosto, NeMO Clinical Center-Brescia for Neuromuscolar Diseases; Department of Clinical and Experimental Sciences, University of Brescia
- Costanza Lamperti, Division of Medical Genetics and Neurogenetics, Mariani Foundation Center for the Study of Mitochondrial Pediatric Diseases, Foundation IRCCS Neurological Institute “C. Besta”, Milan
- Michelangelo Mancuso, AOUP, Neurological Institute, University of Pisa
- Olimpia Musumeci, AOU Policlinico “G.Martino”, University of Messina
- Serenella Servidei, Neurology Institute, Catholic University of the Sacred Heart, Rome
- Valeria Tiranti, Division of Medical Genetics and Neurogenetics, Mariani Foundation Center for the Study of Mitochondrial Pediatric Diseases, Foundation IRCCS Neurological Institute “C. Besta”, Milan
Speakers
- Anthony Abbruscato, Senior Director, Clinical Development, Stealth BioTherapeutics
- Laurence A. Bindoff Helse, Neuro-SysMed, Center of Excellence for Clinical Research in Neurological Diseases, Department of Neurology, Haukeland University Hospital, & Department of Clinical Medicine, University of Bergen, Bergen, Norway
- Alberto Burlina, U.O.C. Malattie Metaboliche Ereditarie, A.O.U University of Padova, Padova Italy.
- John C. Campbell, Head US Clinical Development, Minovia Therapeutics
- Madhu Davies, Medical Director, Reneo Pharma
- Emma Del Rey, President, AMMI – Association contre les Maladies Mitochondriales
- Salvatore Funiciello, Medical Director Italy, Zogenix
- Grainne Gorman, The Wellcome Trust Centre for Mitochondrial Research, Newcastle University, UK
- Magnus Hansson, Chief Medical Officer, VP preclinical & clinical development, Abliva AB
- Michio Hirano, H. Houston Merritt Neuromuscular Research Center, Columbia University Medical Center, New York, USA
- Matthew Klein, Chief Development Officer, PTC Therapeutics
- Thomas Klopstock, Ludwig-Maximilians-University of Munich, Munich, Germany
- Xavier Llòria, MD Medical Lead, Rare Diseases, Chiesi Farmaceutici
- Giovanni Manfredi, Weill Cornell Medical College, USA
- Kira Mann, Chief Executive Officer, MitoAction and Chair, International Mito Patients (IMP)
- Marco Marmotta, President, Mitocon – Insieme per lo Studio e la Cura delle Malattie Mitocondriali ODV
- Carlos Moraes, University of Miami, Miller School of Medicine, USA
- Catherine Mulvale, Chief Development Officer, MitoCanada
- Sean Murray, CEO, Mito Foundation
- Alessandro Prigione, University Children’s Hospital, Heinrich-Heine-University, Düsseldorf, Germany
- Holger Prokisch, PhD, Head of the research group “Genetics of Mitochondrial Disorders” at the Institute of Human Genetic of the Technical University Munich and of the Helmholtz Zentrum München, Germany.
- Shamima Rahman, UCL GOS Institute of Child Health, UK
- Piero Santantonio, Past President, Mitocon – Insieme per lo Studio e la Cura delle Malattie Mitocondriali ODV
- Leonid Sazanov, Institute of Science and Technology, Austria
- Jan Smeitink, Chief Executive Officer, Khondrion BV
- Magali Taiel, Chief Medical Officer, Gensight-Biologics
- Valeria Tiranti, Division of Medical Genetics and Neurogenetics, Mariani Foundation Center for the Study of Mitochondrial Pediatric Diseases, Foundation IRCCS Neurological Institute “C. Besta”, Milan, Italy
- Carlo Viscomi, University of Padova, Padova, Italy
- Philip Yeske, Science & Alliance Officer, United Mitochondrial Disease Foundation (UMDF)
- Massimo Zeviani, Department of Neurosciences, University of Padua, Padua, Italy
“Modelling Leigh syndrome with patient-specific brain organoids“, Alessandro Prigione, University Children’s Hospital, Heinrich-Heine-University, Düsseldorf, Germany.
“Metabolic stress response in mitochondrial cardiomyopathy“, Giovanni Manfredi, Weill Cornell Medical College, USA.
“Studying mechanisms involved in POLG related disease and the use of stem cell models“, Laurence A. Bindoff Helse, Neuro-SysMed, Center of Excellence for Clinical Research in Neurological Diseases, Department of Neurology, Haukeland University Hospital, & Department of Clinical Medicine, University of Bergen, Bergen, Norway.
“Mitochondrial diseases: from mechanisms to therapies“, Carlo Viscomi, University of Padova, Padova, Italy.
“Structure and (mal)function of the respiratory chain“, Keynote lecture by Leonid Sazanov, Institute of Science and Technology, Austria.
“Reproducing Leber’s hereditary optic neuropathy in iPSCs derived models“, Valeria Tiranti, Division of Medical Genetics and Neurogenetics, Mariani Foundation Center for the Study of Mitochondrial Pediatric Diseases, Foundation IRCCS Neurological Institute “C. Besta”, Milan, Italy.
“Mitochondrial targeted meganucleases for gene therapy of mtDNA diseases“, Carlos Moraes, University of Miami, Miller School of Medicine, USA.
Challenges and pitfalls in clinical trials design – Flash presentations and round table discussion
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