OCTOBER 7-8-9, 2022
Holiday Inn Rome EUR Parco dei Medici
Since 2010 Mitocon has organized the Mitochondrial Diseases Conference, to encourage the exchange of knowledge and experience between doctors and researchers, patients, family members and caregivers, with the participation of the leading Italian and international experts.
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 diagnosis to the study of possible treatments.
Our conference has contributed to this process by gathering the entire community of Italian doctors and researchers around the association of patients and helping to strengthen international partnerships and collaborations, making the whole community grow together and contributing to sharing knowledge and research progress.
The conference is hybrid with both face-to-face and online participation (online participation will be possible only for October 7 and 8). The scientific sessions will be entirely in English to facilitate the participation of doctors and researchers from all over the world, promoting international exchange and collaboration, crucial to fight together against mitochondrial diseases. Simultaneous translation into Italian will be provided.
Mitocon is the Italian leading non-profit mitochondrial diseases patients organization striving to advance research towards finding a cure. Encouraging collaboration and the exchange of knowledge within the scientific community is our priority.
Get in touch with us on mitocon.it
Scientific Programme
Continuing Medical Education – CME credits (10 credits) will be provided only for those who attend in presence.
Simultaneous translation will be provided during the scientific sessions
Plenary room
Day 1: Friday, October 7
09.00 – 09.30 AM
Arrivals & Registration
09.30 – 10.00 AM
Welcome to the Mitochondrial Diseases Conference 2022
Marco Marmotta, President, Mitocon – Insieme per lo Studio e la Cura delle Malattie Mitocondriali ODV
Michelangelo Mancuso, Costanza Lamperti, Scientific Committee Delegates
Mito Patients and Families What Does Mitochondrial Disease Mean to Me – Stories/Video
10.00 -10.30 AM
Keynote Lecture:’Manipulating Mitochondrial DNA’
Introduction:
Carlo Viscomi
Speaker:
Mary Herbert
10:30 – 10:50 AM
CRISPR-free organellar genome editing in human cells, animals and plants
Speaker:
Jin-Soo Kim
Q&A
11:00-11:30 AM
Coffee Break
11:30 – 1:00 PM
Session 1
Basic Science
Moderators:
Valeria Tiranti, Piero Santantonio
Speakers:
11:30 Antonella Spinazzola – Targeting metabolism to purge mutant mitochondrial DNA
11:50 Michela Di Nottia – Free cytosolic-mitochondrial DNA triggers a potent type-I Interferon response in Kearns–Sayre patients counteracted by mofetil mycophenolate
12:10 Andrea Legati – Advantages of short and long-read NGS in the genetic analysis of the mitochondrial DNA
12:30 Luca Scorrano – A screening for compounds that ameliorate mitochondrial function in ADOA
Q&A
1:00- 2:30 PM
Lunch
2:30 – 4:15 PM
Session 2
Leigh Syndrome Road Map
Moderators:
Philip Yeske, Piero Santantonio
Speakers:
2:30 Introduction: Massimo Zeviani
2:50 Alessandro Prigione – Induced pluripotent stem cells (iPSC)-driven drug repositioning for Leigh Syndrome
3:05 Mickael Decressac – Combining gene replacement and focused ultrasound to treat Leigh Syndrome
3:20 Roan Louw – Metabolic investigation of Leigh Syndrome – the search for novel treatment options
3:35 Gino Cortopassi – Fumarates rescue multiple mouse models of Mitochondrial disease: Leigh, Friedreich’s, LHON
3:50 Phil Yeske – Patient-Led Research- An Update on the Global Leigh Syndrome Roadmap Project
Q&A
4:15 – 4:45 PM
Coffee Break
4:45 – 5:45 PM
Session 3
Exploring and managing PMD phenotypes
Moderators:
Michelangelo Mancuso, Paola Desideri
Speakers:
4:45 Robert McFarland – Management of stroke like episodes
5:05 Amel Karaa – Approaching a patient with possible PMD: an existential crisis?
Q&A
5:45 – 6:15 PM
Posters and Mitoideas Award 2022 (NO CME)
Moderators:
Costanza Lamperti, Paola Desideri
6:30 PM
End of day 1
Plenary room
Day 2: Saturday October 8
On Saturday October 8, during the conference, activities for children will be organised in the Properzio Room.
8:30 -9:00
Arrivals & Registration
9:00 -9:05 AM
Opening Session
Mito Patients and Families What Does Mitochondrial Disease Mean to Me – Stories/Video
9:05 – 9:25 AM
Session 4
Progress in clinical research for new treatment options for LHON: an exciting landscape in front of Patients and Clinicians
Moderators
Valerio Carelli, Paula Morandi
Speaker
Lorena Castillo
9:30 -10:45 AM
Session 5
Roundtable. Challenges and pitfalls in preclinical research and clinical trial design. Discussion with Pharmaceutical Industries
Moderators:
Enrico Bertini, Paula Morandi
Speakers:
09:30 Magali Taiel – Gene Therapy Development in Leber Hereditary Optic Neuropathy
09:40 Livia Tomasso – LHON: new insights for a clinical challenge
09:50 Madhu Davies – Challenges in Rare Disease Drug Development. The Reneo Perspective: Primary Mitochondrial Myopathies (PMM)
10:00 Magnus Hansson – A Phase 2/3 Adaptive Study of the Efficacy of KL1333 in Adult Patients with Primary Mitochondrial Disease
10:10 Anthony Abbruscato – Challenges in Drug Development for Ultra-Rare Diseases: Examples from a Development Program in Barth Syndrome
10:20 Matthew Klein – Update on the development of vatiquinone (PTC743) for mitochondrial disease
10:30 Hicham Aloui – Therapeutic Development for Rare Diseases Using Glycomine’s Liposome-mediated delivery platform
Q&A
10:50 -11:15
Coffee Break
11:15 – 11:45
Posters and MitoIdeas Awards 2022 (NO CME)
Moderator:
Costanza Lamperti, Paola Desideri
11:45– 12:45 PM
Session 6
Late-breaking News
Moderator:
Olimpia Musumeci, Caterina Garone
Speakers:
11:45 Anthony Abbruscato – Safety and Efficacy Results of an Increased Dose of Elamipretide in the Expanded Access Program
11:55 Dmitrii Smirnov – Discovery and replication of novel diagnostic biomarker in the largest cohort of mitochondrial disease patients
12:05 Cure Mito Foundation – Building a Worldwide Community – Leigh Syndrome Global Patient Registry
12:15 Anna Ardissone – Phenotyping mtDNA-related diseases in childhood: a cohort study of 150 patients
12:25 Valerio Carelli – Genetic variants affecting NQO1 protein levels impact on efficacy of idebenone treatment in Leber’s hereditary optic neuropathy
Q&A
12:45 – 1:45 PM
Session 7
COVID-19 and Long COVID in PMD
Moderator:
Serenella Servidei, Paola Desideri
Speakers:
12:45 Robert Pitceathly – The European Mito COVID Experience. (London, dovrebbe uscire a breve il lavoro europeo covid in PMD su Neurology)
13:05 Massimiliano Filosto – Long-Covid manifestations in Neuromuscular and mitochondrial diseases.
Q&A
1:45PM
Closing of the scientific part of the Congress
Programme for patients and families
SATURDAY, October 8
On Saturday October 8, during the conference, activities for children will be organised in the Properzio Room.
Cicerone room
9.30 – 12.40 Adult medical consultations
Dr. Costanza Lamperti, IRCCS Foundation Carlo Besta Neurological Institute, Milan
Omero room
9.30 – 12.40 Nutrition consultations
Dr. Marzia Giulia Camera, nutritionist biologist
Catullo room
11.00 – 12.00 Prof. Valerio Carelli meets patients with mitochondrial diseases affecting eyes
Plenary room
15.30 – 16.00 From clinical diagnosis to genetic diagnosis, Guido Primiano, Agostino Gemelli University Hospital Foundation IRCCS, Rome
16:00 – 16:30 The Diagnostic Therapeutic Assistance Pathways (PDTA) for mitochondrial patients, Francesca Clementina Radio, U.O.C. Medical Genetics Laboratory, A.O. San Camillo-Forlanini, Sapienza University of Rome, Chiara La Morgia, IRCCS Institute of Neurological Sciences of Bologna – Department of Biomedical and Neuromotor Sciences, University of Bologna, Serenella Servidei, Neurology Institute, Catholic University of the Sacred Heart, Rome, Cristina Rebagliati, contact person for patients Mitocon Odv, Paula Morandi, contact person for patients affected by eye mitochondrial diseases Mitocon Odv
16:30 – 17:00 Mitochondrial DNA replacement techniques, Piero Santantonio, Past President Mitocon OdV, Maurizio Balistreri, Associate Professor of Moral Philosophy, Department of Philosophy and Educational Sciences, University of Turin, Daniela Zuccarello, Geneticist, University Hospital of Padua
17:00 – 17:30 Living with the disease every day, Silvia Bonino, former professor of developmental and educational psychology, Department of Psychology, University of Turin
Foyer Plenary room
15.30 – 17.30 Presentation of tools for blind and visually impaired people by the Typhlo-technical Promotion Center of the Italian Union of the Blind and Visually Impaired in Rome
17.30 – 19.00 Mito-aperitif
Aristotele room
17.30 – 19.30 Pediatric medical consultations
Dr. Anna Ardissone, IRCCS Foundation Carlo Besta Neurological Institute, Milan
Dr. Enrico Silvio Bertini, IRCCS Bambino Gesù Pediatric Hospital, Rome
Cicerone room
17.30 – 19.30 Adult medical consultations
Prof. Serenella Servidei, Agostino Gemelli University Hospital Foundation IRCCS Catholic University of the Sacred Heart, Rome
Omero room
17.30 – 19.30 Genetic diagnosis consultations
Dr. Andrea Bartuli, IRCCS Bambino Gesù Pediatric Hospital, Rome
SUNDAY October 9
Plenary room
10.00 – 10.30 Take-off message from the scientific conference, Q&A, Serenella Servidei, Agostino Gemelli University Hospital Foundation IRCCS Catholic University of the Sacred Heart, Rome
10.30 – 12.30 Presentation of Mitocon ODV activities
- Anthony Abbruscato, Vice President, Clinical Development, Stealth BioTherapeutics
- Hicham Aloui, Chief Scientific Officer, Glycomine Inc.
- Anna Ardissone, Metabolic, Degenerative and Neuromuscular Diseases, Child Neurology Unit – Department of Pediatric Neuroscience Mariani Foundation center for Mitochondrial Pediatric disease study
IRCCS Foundation Neurological Institute Carlo Besta - Maurizio Balistreri, Associate Professor of Moral Philosophy, Department of Philosophy and Educational Sciences, University of Turin
- Andrea Bartuli Head of the Complex Operative Unit Rare Diseases and Medical Genetics Children’s Hospital Bambino Gesù
- Enrico Bertini, Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Research Hospital, Rome
- Marzia Giulia Camera, Nutritionist Biologist and Vice President Mitocon
- Valerio Carelli, IRCCS Institute of Neurological Sciences (ISNB), Bellaria Hospital, University of Bologna
- Lorena Castillo, Head of the Neuro-Ophthalmology Department at the ICR Ophthalmology Center
- Gino Cortopassi, Professor Molecular Biosciences, University of California
- Madhu Davies, Medical Director, Reneo Pharma Ltd
- Mickael Decressac, Inserm Researcher at Grenoble Institut Neurosciences
- Paola Desideri, Vice President Mitocon
- Michela Di Nottia, Researcher Neuroscience, Bambino Gesù Children’s Hospital
- Massimiliano Filosto, NeMO Clinical Center-Brescia for Neuromuscolar Diseases; Department of Clinical and Experimental Sciences, University of Brescia
- Magnus Hansson, Chief Medical Officer, VP preclinical & clinical development, Abliva
- Mary Herbert Professor of Reproductive Biology, Newcastle Fertility Centre International Centre for Life
- Amel Karaa, M.D., Massachusetts General Hospital
- Jin- Soo Kim Director Center for Genome Engineering, Institute for Basic Science, Republic of Korea
- Matthew Klein, Chief Operating Officer, PTC Therapeutics
- 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
- Andrea Legati PhD, The Foundation of the Carlo Besta Neurological Institute | IRCCS · Unit of Medical Genetics and Neurogenetics
- Roan Louw, Research Director, Human Metabolomics at North-West University, Noordwes-Universiteit
- Michelangelo Mancuso, AOUP, Neurological Institute, University of Pisa
- Marco MarmottaPresident, Mitocon
- Robert McFarland Professor of Paediatric Mitochondrial Medicine and Hon Consultant Paediatric Neurologist, Wellcome Centre Mitochondrial Research, New Castle University
- Paula Morandi, Patients’ Representative for Mitochondrial Eye DiseasesMember of Mitocon, IMP Board Member
- Olimpia Musumeci, AOU Policlinico “G.Martino”, University of Messina
- Robert Pitceathly, Principal Research Fellow Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology
- Alessandro Prigione, Group Leader Stem Cell Metabolism, Department of General Pediatrics, University Children’s Hospital, Heinrich-Heine-University, Düsseldorf
- Piero Santantonio, Founder Mitocon
- Luca Scorrano, Professor of Biochemistry Dept. of Biology, University of Padova and VIMM
- Serenella Servidei, Neurology Institute, Catholic University of the Sacred Heart, Rome
- Antonella Spinazzola, Professor PI, Neuroscience and Mitochondrial Medicine Brain Research UK Miriam Marks Senior Fellow UCL Queen Square Institute of Neurology, Royal Free Campus, London
- 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
- Livia Tomasso, Livia Tomasso. Medical Advisor Rare Diseases, EU & Emerging Markets Global Rare Disease Business Unit, Chiesi Group
- Carlo Fiore Viscomi, Department of Biomedical Sciences, University of Padova
- Philip Yeske, PhD Science & Alliance Officer, United Mitochondrial Disease Foundation
- Massimo Zeviani, Scientific Director IRCCS Burlo Garofolo, Professor of Neurology, Human Physiology, General Pathology
- Daniela Zuccarello, Medical eGneticist UOC Clinical Genetics AOU of Padua
- Enrico Bertini, Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Research Hospital, Rome.
- Valerio Carelli, IRCCS Institute of Neurological Sciences (ISNB), 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.
- Carlo Fiore Viscomi, Department of Biomedical Sciences, University of Padova.
To participate in the conference, both face-to-face and online, you need to register. Registration is subject to the payment of a registration fee. Registration is free for patients, family members and caregivers.
FACE TO FACE REGISTRATION
Patients, family members, caregivers
For patients, family members and caregivers the following are free: registration, dinner on 7 October, lunch and dinner on 8 October and lunch on 9 October. The following are subject to charges: accommodation, dinner on 6 October, lunch on 7 October, parking space in the hotel car park. Consultations with doctors, free of charge, must be booked and they are subject to availability.
The deadline for registration is Monday 26.09.2022.
Mitocon will reimburse travel expenses, according to the following limits:
- <150 km no refund
- km150- 300 € 20
- km300-500 € 50
- km> 500 € 80
Refunds are intended per family unit. To request reimbursement, at the end of the conference and in any case no later than October, an e-mail must be sent to segreteria@mitocon.it indicating: name and surname, IBAN, amount and nature of the expense (eg. train, plane, own vehicle), attaching the supporting documents (e.g. tickets, payment receipts).
Healthcare personnel and other professions with ECM
Registration fee:
- By 12/09/2022: € 150
- By 09/26/2022: € 260
Registration includes the conference material, coffee breaks and the CME certificate. The following must be paid separately: accommodation, meals, parking space in the hotel car park.
The deadline for registration is Monday 26.09.2022.
Only the first 100 will be accepted. CME credits will be granted to registered attendees based upon attendance of 100% of the scientific sessions and completion of the final evaluation questionnaire.
Healthcare personnel and other professions without CME
Registration fee:
- By 12/09/2022: € 120
- By 09/26/2022: € 230
The following must be paid separately: accommodation, meals, parking space in the hotel car park.
The deadline for registration is Monday 26.09.2022.
Students with ECM
Registration fee:
- By 12/09/2022: € 80
- By 09/26/2022: € 160
Registration includes the conference material, coffee breaks and the CME certificate. The following must be paid separately: accommodation, meals, parking space in the hotel car park.
The deadline for registration is Monday 26.09.2022.
Only the first 100 will be accepted. CME credits will be granted to registered attendees based upon attendance of 100% of the scientific sessions and completion of the final evaluation questionnaire.
Students without ECM
Registration fee:
- By 12/09/2022: € 70
- By 09/26/2022: € 140
The following must be paid separately: accommodation, meals, parking space in the hotel car park.
The deadline for registration is Monday 26.09.2022.
ONLINE REGISTRATION
Patients, family members, caregivers
Registration is free for patients, family members and caregivers. After completing the registration form, you will receive an e-mail with the link to access the online conference.
It is possible to register at any time, even during the conference.
Healthcare personnel, other professions, students
Registration is subject to the payment of a registration fee of € 40. After completing the registration form, you will receive an e-mail with instructions to pay the registration fee and complete the registration.
The deadline for registration is Monday 3 October 2022.
To protect patients and families, delegates, colleagues and staff, please do not participate to the Mitochondrial Diseases Conference, if you are unwell in any way. This may include, but is not limited to, symptoms of colds, coughs, gastric illness or headaches.
If you arrive to the event with any symptoms of illness, you will be asked to leave. In addition, if you have tested positive for Covid-19 you are welcome to attend the Conference after five days, and returning two consecutive negative lateral flow test results.
We also strongly recommend that all our participants are fully vaccinated and take a Covid test before they travel to the event to avoid the spread of Covid-19.
REGISTRATION IS NOW OPEN!
Join us for the Mitochondrial Disease Conference from 7th to 9th October.
Select how to attend
Holiday Inn Rome EUR Parco dei Medici
Everybody is welcome to attend. Registration is subject to the payment of a registration fee. Registration is free for patients, family members and caregivers. Accommodation, meals, parking space must be paid separately.
Click on the box below to register.
MDC 2022
Patients, family members,
caregivers
MDC 2022
Health personnel, other professions with CME credits
MDC 2022
Health personnel, other professions without CME credits
Everybody who cannot join us in Rome is welcome to attend online. Registration is subject to the payment of a registration fee. Registration is free for patients, family members and caregivers.
CME credits will not be available for online attendees.
Click on the box below to register.
MDC 2022
Patients, family members, caregivers
MDC 2022
Health personnel, other professions, students
Your generosity will help Mitocon supporting the participation of patients and families by keeping registration free of charge and reducing costs for accommodation and meals.
Stay with Us. You can make a difference in the lives of those affected by a mitochondrial disease.
Thank you!
With the patronage of



And with the patronage of Istituto Superiore di Sanità
And with the contribution of
