18:00 • OL • Story(ies) of astronomy on the French Riviera > E. Eric LAGADEC (Nice, France)

08:30 • S2L1 • Molecular and functional diversity among satellite cell populations provides insights into disease > S. Shahragim TAJBAKHSH (Paris, France) 09:00 • S2L2 • Notch signaling: an emerging therapeutic target for muscle wasting diseases > Y. Yusuke ONO (Kumamoto, Japan) 09:30 • S2L3 • Myofiber syncytium - many identities in one cell > M. Minchul KIM (Illkirch-Graffenstaden, France) 09:45 • S2L4 • Dissecting the regulatory program controlling trapezius muscle development at the head trunk interface > C. Camille DUMAS (Marseille, France)

10:30 • S4L1 • Engineering human stem cells for advanced neuromuscular disease and therapy modelling > F. Francesco Saverio TEDESCO (London, UK) 11:00 • S4L2 • LSD1-mediated demethylation of beta-catenin regulates muscle stem cell self-renewal potential > D. Delia CICCIARELLO (Lyon, France) 11:15 • S4L3 • Defective dystrophic thymus determines degenerative changes in skeletal muscle > Y. Yvan TORRENTE (Milano, Italy) 11:30 • S4L4 • USP18 a novel regulator of muscle cell differentiation and maturation, potentially regulating regeneration in dermatomyositis > V. Vered RAZ (Leiden, The Netherlands) 11:45 • S4L5 • Satellite Cell Dynamics in Growth and Regeneration of Skeletal Muscle in Normal and Dystrophic Mice > T. Terence PARTRIDGE (London, UK)

10:30 • S3L1 • COVID-19 and Myositis-a relevant problem ? > W. Werner STENZEL (Berlin, Germany) 11:00 • S3L2 • Telemedicine to overcome barriers in NMD- myths and realities > G. Gabriele SICILIANO (Pisa, Italy) 11:30 • S3L3 • Evaluation of anti-SARs-CoV-2 vaccination efficacy in patients with severe neuromuscular diseases > A. Alexia DAMOUR (Bordeaux, France) 11:45 • S3L4 • Safety of COVID-19 vaccination in a large French cohort of neuromuscular patients: data from the VACNEMUS study > M. Marlène BARNAY (Bordeaux, France)

12:00 • SYMP1L1 • Welcome and introduction > F. Francesco SACCÀ (Geneve) 12:10 • SYMP1L2 • Targeted treatments in gMG: Evolution of the treatment landscape and novel therapeutic targets > S. Suraj MULEY (Geneve, Switzerland) 12:25 • SYMP1L3 • Adapting the strategy: Working towards treatment individualization > F. Francesco SACCÀ (Geneve) 12:35 • SYMP1L4 • Panel discussion: Interactive case studies and practical implications for your patients 12:55 • SYMP1L5 • Q&A and close > F. Francesco SACCÀ (Geneve)

14:00 • S5L1 • Delivery and expression of large dystrophins using adeno-associated viral vector and protein trans-splicing mediated by split inteins > H. Hichem TASFAOUT (Seattle, USA) 14:15 • S5L2 • Novel AAV capsid variant for muscle-directed gene therapy > J. Juliette LEMOINE (Evry, France) 14:30 • S5L3 • Inactivating the lipid kinase activity of PI3K-C2β is sufficient to rescue X-linked myotubular myopathy in mice > M. Marie GORET (Illkirch, France) 14:45 • S5L4 • PARP3 promotes myogenic differentiation and skeletal muscle function in cooperation with the histone methyltransferase EZH2. > Z. Zuleyha YILDIRIM (Illkirch, France)

15:00 • S6L1 • Challenges of AAV Gene Therapy Development for Duchenne Muscular Dystrophy > F. Francesco MUNTONI (London, UK) 15:20 • S6L2 • The management of safety of gene therapy of neuromuscular diseases, an emblematic example > S. Serge BRAUN (Evry, France) 15:40 • S6L3 • The liver as a model tissue to develop innovative solutions to the existing limitations of AAV gene therapy > G. Giuseppe RONZITTI (Evry, France)

16:30 • S7L1 • The role of DNA epigenetics in modulating Spinal Muscular Atrophy > P. Piera SMERIGLIO (Paris, France) 17:00 • S7L2 • Combination of BIO101 with antisense oligonucleotide therapy demonstrates synergistic beneficial effects in severe SMA-like mice > C. Cynthia BEZIER (Paris, France) 17:20 • S7L3 • Spinal cord MRI for early detection of presymptomatic pathology in C9orf72-mutation carriers: a longitudinal neuroimaging study. > G. Giorgia QUERIN (Paris, France) 17:40 • S7L4 • Extracellular Vesicle Sphingomyelins as Diagnostic Biomarkers in Motor Neurone Diseases > S. Stephanie DUGUEZ (Londonderry, UK)

16:30 • S8L1 • Dissecting stem cell regulation in skeletal muscle regeneration and aging through single - cell transcriptomics > B. Benjamin COSGROVE (Ithaca, USA) 17:00 • S8L2 • Preliminary results of a multiparametric quantitative NMR ageing study at rest and during exercise in the lower leg in healthy subjects between 20 and 65 years of age. > A. Alfredo LOPEZ KOLKOVSKY (Paris, France) 17:15 • S8L3 • The histone variant H2A.Z prevents accumulation of DNA damage and acts as a gatekeeper for skeletal muscle aging > L. Laurent SCHAEFFER (Lyon, France) 17:30 • S8L4 • The spectrum of IL-6 actions in healthy and bad aging and in muscle diseases > A. Antonio MUSARÒ (Roma, Italy) 17:45 • S8L5 • Therapeutic approach based on GDF5 to counteract age-related muscle wasting > M. Massiré TRAORE (Paris, France)

08:30 • S9L1 • A history of cardiomyology > D. Denis DUBOC (Paris, France) 09:00 • S9L2 • Establishing new models for dystrophic cardiomyopathy > E. Elizabeth MCNALLY (Chicago, USA) 09:30 • S9L3 • EV for cardiac repair: rationale and translational roadblocks > P. Philippe MENASCHÉ (Paris, France)

10:30 • S10L1 • Decoy gene therapy for Myotonic Dystrophy > D. Denis FURLING (Paris, France) 11:00 • S10L2 • Clinical Trial readiness in DM1 and DM2 > F. Federica MONTAGNESE (Munich, Germany) 11:30 • S10L4 • Mutation-driven personalized therapy in non-dystrophic myotonia > J-F. Jean-François DESAPHY (Bari, Italy)

10:30 • S11L1 • Metabolic reprogramming of skeletal muscle by resident macrophages points to CSF1R inhibitors as muscular dystrophy therapeutics > F. Farshad BABAEIJANDAGHI (Vancouver) 11:30 • S11L2 • Adipogenic properties of Fibro-Adipogenic Precursor cells in normal, regenerating and DMD mouse skeletal muscle > G. Georgiana PANCI (Lyon, France) 11:45 • S11L5 • Muscle fibrosis: a vicious circle between human fibroadipogenic progenitors and muscle fibers > M. Mona BENSALAH (Paris, France)

12:00 • SYMP2L1 • Welcome and introductions > F. Francesco MUNTONI (London, UK) 12:05 • SYMP2L2 • Seeking a better understanding of emerging therapies in neuromuscular disorders > F. Francesco MUNTONI (London, UK) 12:15 • SYMP2L3 • Innovative outcome measures: effective and personalised assessments in neuromuscular disorders > C. Charlotte LILIEN (Oxford, UK) 12:30 • SYMP2L4 • Innovative biomarkers: evaluating neuromuscular fatigue > G. Guillaume MILLET (Saint Etienne, France) 12:45 • SYMP2L5 • Panel discussion and Q&A

14:30 • S12L1 • X-linked myotubular myopathy and liver dysfunction > A. Ana BUJ-BELLO (Evry, France) 15:00 • S12L2 • Modelling and editing Duchenne Muscular Dystrophy > W-H. Wolfram-Hubertus ZIMMERMANN (Goettingen, Germany) 15:30 • S12L3 • Application of CRISPR/Cas9 strategy for gene therapy of Myotonic Dystrophy type 1 > G. Germana FALCONE (Monterotondo, Italy)

16:30 • S13L1 • New treatments for autoimmune myasthenia gravis > E. Emilien DELMONT (Marseille, France) 17:00 • S13L2 • Use of human pluripotent stem cells for Neuromuscular Disorders > C. Cecile MARTINAT (Evry, France) 17:30 • S13L3 • Targeting the neuromuscular junction (NMJ) to treat congenital myasthenic syndromes and inherited motor neuropathies with NMJ dysfunction > S. Sally SPENDIFF (Ottawa, Canada)

16:30 • S14L1 • Facioscapulohumeral muscular dystrophy: clinical, genetic and nuclear heterogeneity from a single locus > S. Silvere VAN DER MAAREL (Leiden, The Netherlands) 17:00 • S14L2 • Inflammatory responses in FSHD > S. Sabrina SACCONI (Nice, France) 17:30 • S14L3 • Induced pluripotent stem cells for modeling neuromuscular disorders: the example of FacioScapuloHumeral Dystrophy > F. Frederique MAGDINIER (Marseille, France)

08:30 • S15L1 • Oculopharyngodistal myopathy > I. Ichizo NISHINO (Tokyo, Japan) 09:00 • S15L2 • Latest advances in CMT: Disease mechanisms and novel therapy concepts in demyelinating neuropathy > M. Michael SEREDA (Göttingen, Germany) 09:30 • S15L3 • The node of Ranvier: a vulnerable site for autoimmunity > L. Luis QUEROL (BARCELONA)

10:30 • S16L1 • 3D printed, anisotropic, and porous dense collagen hydrogels to mimic skeletal muscle extracellular matrix > M. Marie CAMMAN (Paris, France) 11:00 • S16L2 • The generation of a new preclinical rat model for DMD leads to the identification of the TSHR pathway as a regulator of senescence in muscle stem cells. > F. Frederic RELAIX (Créteil, France) 11:30 • S16L3 • A novel extrusion 3D bio-printing system for skeletal muscle tissue engineering. > S. Stefano TESTA (Marseille, France)

10:30 • S17L1 • The first standards of c are guidelines for a limb girdle muscular dystrophy > V. Volker STRAUB (Newcastle, UK) 11:00 • S17L2 • Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population > J. Jorge BEVILACQUA (Santiago, Chili) 11:30 • S17L3 • Preclinical development of a gene therapy for three prevalent forms of LGMD > I. Isabelle RICHARD (Evry, France)

• SYMPL1 • Myasthenia gravis epidemiologic data first analysis of French Insurance health data base SNDS > E. Emmanuelle SALORT-CAMPANA (Marseille, France) • SYMPL2 • Patient’s voices: Which patient expectation for the new therapeutic option on going in myasthenia gravis  ?

14:00 • S18L1 • Update on the development of Givinostat in DMD > P. Paolo Umberto BETTICA (Cinisello Balsamo, Italy) 14:15 • S18L2 • An AAV-ShRNA DUX4-based therapy to treat FacioScapuloHumeral muscular Dystrophy (FSHD) > J. Julie DUMONCEAUX (London, UK) 14:30 • S18L3 • CD38-NADase is a major contributor to DMD phenotype > S. Sabine DE LA PORTE (Montigny-le-Bretonneux, France) 14:45 • S18L4 • Severe mitochondrial dysfunctions caused by a heterozygous DES mutation in iPSC-derived cardiomyocytes > Y. Yeranuhi HOVHANNISYAN (Angers, France)

15:00 • S19L1 • Mechanisms of mitochondrial myopathy: mosaic stress responses, metabolic remodeling and curable NAD-deficiency > A. Anu SUOMALAINEN (Helsinki, Finland) 15:45 • S19L2 • Regulation of skeletal muscle bioenergetics through mitochondrial calcium during exercise and aging > J. Jerome FEIGE (Lausanne, Switzerland) 16:15 • S19L3 • Structural heterogeneity of the human respiratory chain > C. Cristina UGALDE (Madrid, Spain) 16:30 • S19L4 • OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy > D. Derek NARENDRA (Bethesda, USA) 16:45 • S19L5 • Efficacy and genetic safety of deoxyribonucleosides as a therapy for mitochondrial DNA replication defects caused by mutations in genes involved in mtDNA maintenance > J. Javier RAMÓN (Barcelona, Spain)

• SYMPL1 • Clinical overview and Natural History Spectrum of TK2d > C. Caterina GARONE (Bologna, Italy) • SYMPL2 • Pharmacological and Gene Therapy in TK2 mutant mice  > C. Carlos LOPEZ-GOMEZ (Malaga, Spain) • SYMPL3 • Contributions of a Spanish Network to TK2d diagnosis and therapy > C. Cristina DOMÍNGUEZ-GONZÁLEZ (Madrid, Spain) • SYMPL4 • Expanded Access Deoxynucleos(t)ide TK2d Therapy at a US Site > M. Michio HIRANO (New York, USA)

08:30 • MITOS1L1 • The integrated stress response in mitochondrial cardiomyopathy > T. Thomas LANGER (Cologne, Germany) 09:00 • MITOS1L2 • Immune mediated disease pathogenesis in Leigh syndrome > S. Simon JOHNSON (Seattle, USA) 09:30 • MITOS1L3 • Nuclear Sensing of Breaks in Mitochondrial DNA Enhances Immune Surveillance > M. Marco TIGANO (Philadelphia, USA) 09:45 • MITOS1L4 • Cell lineage-specific distribution of pathogenic mtDNA mutations in the immune system and purify selection during the adaptive immune response > J. Jingdian ZHANG (Stockholm, Sweden)

10:30 • MITOS2L1 • Modelling OPA1 Dysfunction in iPSC-derived Retinal Ganglion Cells > J. Joshua HARVEY (Camberwell, UK) 11:00 • MITOS2L2 • Drug discovery of mitochondrial diseases using patient-specific brain organoids > A. Alessandro PRIGIONE (Düsseldorf, Germany) 11:30 • MITOS2L3 • PKAN stem cell derived neurons and astrocytes show massive iron accumulation mimicking the human phenotype. > S. Sonia LEVI (Roma, Italy) 11:45 • MITOS2L4 • Mitochondrial Regulation of Neural Stem Cell Ageing in Progressive Multiple Sclerosis > R-B. Rosana-Bristena IONESCU (Cambridge, UK)

12:00 • MITOS3L1 • Autosomal dominant optic atrophy > G. Guy LENAERS (Angers, France) 12:25 • MITOS3L2 • Leber hereditary optic neuropathy > P. Patrick YU-WAI-MAN (Cambridge, UK)

14:00 • MITOS4L1 • CHCHD10-related neurodegeneration: from gene to therapeutic approaches > V. Veronique PAQUIS-FLUCKLINGER (Nice, France) 14:30 • MITOS4L2 • Metabolic rewiring precedes OXPHOS dysfunction in a mutant CHCHD10 mouse model > G. Giovanni MANFREDI (New York, USA) 15:00 • MITOS3L3 • Mitochondrial dysfunction and Ca2+ dysregulation in COQ8A-Ataxia Purkinje neurons that can be rescued by CoQ10 treatment > H. Helene PUCCIO (Lyon, France) 15:15 • MITOS4L4 • Bi-allelic variants in TAMM41 are associated with low muscle cardiolipin levels leading to neonatal mitochondrial disease > R. Rob TAYLOR (Newcastle, UK)

16:00 • MITOS5L1 • Mechanisms and logic of mitochondrial metabolite signaling > E. Edward CHOUCHANI (Boston, USA) 16:30 • MITOS5L2 • Modelling phenotypes of mitochondrial translation defects in vitro and in vivo > R. Rita HORVATH (Cambridge, UK) 17:00 • MITOS5L3 • Mitochondrial genome engineering in vivo > M. Michal MINCZUK (Cambridge, UK) 17:15 • MITOS5L4 • The first in human clinical application of autologous mesoangioblasts as cell therapy medical product in m.3243A>G mutation carriers > F. Florence VAN TIENEN (Maastricht, The Netherlands)

17:30 • MITOS6L1 • Introductory talk > M. Massimo ZEVIANI (Padova, Italy) 18:30 • MITOS6L3 • General discussion

08:30 • MITOS7L1 • Clinical trials landscape in primary mitochondrial diseases in the USA: looking into the future > A. Amel KARAA (Boston, USA) 08:45 • MITOS7L2 • Sonlicromanol in primary mitochondrial disease MELAS spectrum disorders > J. Jan SMEITINK (Beuningen, The Netherlands) 09:00 • MITOS7L3 • Mitochondrial disease clinical trials: experience gained at the London highly specialised service for rare mitochondrial disorders > R. Robert PITCEATHLY (London, UK) 09:15 • MITOS7L4 • Elamipretide treatment and Barth syndrome: combined data from a phase 2/3 clinical trial and a natural history comparison study > H. Hilary VERNON (Baltimore, USA) 09:30 • MITOS7L5 • General discussion between the panel and the audience

10:30 • MITOS8L1 • Adapting DNA editing enzymes to treat mitochondrial disease > C. Carlos MORAES (Miami, USA) 10:45 • MITOS8L2 • Inhibition of mtDNA transcription has beneficial effects on metabolism > N-G. Nils-Göran LARSSON (Stockholm, Sweden) 11:00 • MITOS8L3 • About Neural stem cell trafficking and secretion of functional mitochondria via extracellular vesicles > S. Stefano PLUCHINO (Cambridge, UK) 11:15 • MITOS8L4 • Targeting metabolism to purge mutant mitochondrial DNAs > A. Antonella SPINAZZOLA (London) 11:30 • MITOS8L5 • Genetic variants affecting NQO1 protein levels impact on efficacy of idebenone treatment in Leber’s hereditary optic neuropathy > V. Valerio CARELLI (Bologna, Italy) 11:45 • MITOS8L6 • Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial robustness and reduces ataxic behavior > M. Marisol CORRAL-DEBRINSKI (Paris, France) 12:00 • MITOS8L7 • Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4−/− mice > C. Carlo VISCOMI (Padova)

12:15 • MITOS9L1 • Best MitoNice poster Award 12:30 • MITOS9L2 • Closing remarks