5:00 PM • S1L1 • Welcome ceremony > AFM-Téléthon President> Myology Presidents > L. Laurence TIENNOT-HERMENT (Paris, France), J. John VISSING (Copenhaghen, Denmark), A. Annemieke AARTSMA-RUS (Leiden, The Netherlands) 5:30 PM • S1L2 • Opening lecture 1: nucleoside-modified mrna-lnp therapeutics > D. Drew WEISSMAN (Philadephia, USA) Co-laureate of the Nobel Prize in Physiology or Medicine 2023 6:15 PM • S1L3 • Opening Lecture 2 : The road to gene therapy for DMD > J. Jeffrey CHAMBERLAIN (Seattle, USA)

8:30 AM • S2L1 • Muscle stem and niche cell dynamics in pathology > S. Shahragim TAJBAKHSH (Paris, France) 9:00 AM • S2L2 • Discovery & Clinical Validation of Nutritional Activators of Muscle Stem Cells > J. Jérôme FEIGE (Lausanne, Switzerland) 9:30 AM • S2L3 • The histone variant H2A.Z is required for DNA repair in muscle fibers and prevents premature aging > E. Edwige BELOTTI (Lyon, France) 9:45 AM • S2L4 • Contribution of Insulin-Like Growth Factor-I secreted from Fibro-Adipogenic Progenitors to Skeletal Muscle Regeneration > Y. Yangyi LUO (Gainesville, USA)

10:30 AM • S3L1 • Development of Myoscaffolds as a Platform to Interrogate Stem Cell Interaction with the Native Environment > R. Rachelle CROSBIE (Los Angeles, USA) 11:00 AM • S3L2 • Macrophage derived Spp1 maintains a novel stromal cell population that contributes to intramuscular fat in dystrophic muscle > M. Melissa SPENCER (Los Angeles, USA) 11:30 AM • S3L3 • Cellular actors and ECM components of human fibrosis in myopathies > C. Capucine TROLLET (Paris, France) 11:45 AM • S3L4 • Targeting FAP to reduce fibrosis in DMD: a rationale for a preclinical therapeutic trial in the GRMD dog model. > I. Inès BARTHÉLÉMY (Paris, France)

10:30 AM • S4L1 • Congenital myopathies > J. James DOWLING (Toronto, Canada) 11:00 AM • S4L2 • Congenital myopathies in adulthood > N. Nicol VOERMANS (Nijmegen, Netherlands) 11:30 AM • S4L3 • ASC-1 related myopathy reveals transcriptional co-activation as a new regulator of myogenesis: expanding the molecular spectrum and identifying the mechanisms of an emerging congenital myopathy. > A. Ana FERREIRO (Paris, France) 11:45 AM • S4L4 • Ultrarare CACNA1S congenital-myopathies pharmacological treatment through HiPSC-based Drug repurposing > R. Reem BOU AKAR (Créteil, France)

• SYMP1L1 • Overview of Limb-Girdle Muscular Dystrophies: Exploring the underlying pathology > E. Erik NIKS (Leiden, The Netherlands) • SYMP1L2 • The Evolving Diagnostic Process: Accurate diagnosis is needed to identify management opportunities > G. Giacomo COMI (Milan, Italy) • SYMP1L3 • Exploring New Therapies: Investigational SRP-9003 for LGMD2E/R4 > L. Linda LOWES (Columbus, Ohio State, USA) • SYMP1L4 • Q&A session

1:00 PM • SYMP2L1 • Introduction and overview of myotonic disorders > G. Guillaume BASSEZ (Paris, France) 1:10 PM • SYMP2L2 • Living with myotonia: do we understand patients’ needs? > J. Jordi DIAZ-MANERA (Newcastle Upon Tyne, UK) 1:30 PM • SYMP2L3 • Debate – expert opinions on myotonia in myotonic dystrophies (DM) and non-dystrophic myotonia (NDM) > G. Guillaume BASSEZ (Paris, France), V. Valeria SANSONE (Milan, Italy), B. Benedikt SCHOSER (Munich, Germany) 1:55 PM • SYMP2L4 • Key takeaways and close > V. Valeria SANSONE (Milan, Italy)

2:00 PM • S5L1 • Muscle targeted gene therapy to cure BIN1 centronuclear myopathy > J. Jacqueline JI (Illkirch-Graffenstaden, France) 2:15 PM • S5L2 • RNA-sequencing of Type II SMA paravertebral muscle after treatment reveals distinct molecular subtypes. > F. Fiorella GRANDI (Paris, France) 2:30 PM • S5L3 • The damaged lysosome is a therapeutic target for combined therapy in Duchenne muscular dystrophy > A. Abbass JABER (Evry, France) 2:45 PM • S5L4 • Deciphering the consequences of SORBS1 mis-splicing in myotonic dystrophy type 1 > M. Morgan GAZZOLA (Corbeil-Essonnes, France)

3:00 PM • S6L1 • First data of the phase I/II part of the clinical trial of GNT0004 AAV8-μdystrophin gene therapy in ambulant DMD boys > F. Francesco MUNTONI (London, United Kingdom)

4:30 PM • S7L1 • New treatment in Spinal Muscular Atrophy > L. Laurent SERVAIS (Oxford, UK) 5:00 PM • S7L2 • Improved understanding of SMA and development of further treatment strategies > A. Arthur BURGHES (Columbus OH, United States) 5:30 PM • S7L3 • Bi-regional newborn screening program for spinal muscular atrophy in France linked to a nationwide strategy for standardized treatment and follow-up > V. Vincent LAUGEL (Strasbourg, France) 5:45 PM • S7L4 • LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates SBMA phenotypes in flies and mice. > M. Maria PENNUTO (Padova, Italy)

4:30 PM • S8L1 • FSHD: Clinical Manifestation and Therapeutic Prospects > R. Rabi TAWIL (Rochester, USA) 5:00 PM • S8L2 • Decoding DUX4: understanding a trendy landscape of FSHD pathogenesis > A. Alberto ROSA (Cordoba, Argentina) 5:30 PM • S8L3 • Exchange of subtelomeric regions between chromosomes 4q and 10q: a novel way to revert the FSHD genotype and phenotype > A. Anna SCHWAGER (Villejuif, France) 5:45 PM • S8L4 • Targeting muscle degeneration in FSHD: insights from patients’ muscle stem cell niche to unlock disease mechanisms > L. Lorena DI PIETRO (Rome, Italy)

• SYMP3L1 • Physical exercise and muscle damage in BMD > J. John VISSING (Copenhaghen, Denmark) • SYMP3L2 • Development of a cycle training paradigm to improve exercise capacity and pathophysiology in boys with DMD > T. Tanja TAIVASSALO (Orlando, FL, United States) • SYMP3L3 • Targeting Protection against Contraction-Induced Injury in BMD: An Overview of the EDG-5506 Clinical Program > J. Joanne DONOVAN (Boston, MA, United States)

8:30 AM • S9L1 • Sports-related Acute Muscle Strain Injury and its Regeneration > M. Michael KJAER (Copenhagen, Denmark) 9:00 AM • S9L2 • Is it feasible to train all persons with neuromuscular diseases irrespective of disease type and severity? > J. John VISSING (Copenhaghen, Denmark) 9:30 AM • S9L3 • Muscle-to-brain communication under voluntary and forced exercise training applied in the context of obesity in mice. > A. Antoine DELPIERRE (Mons, Belgium) 9:45 AM • S9L4 • Thyroid hormone regulates skeletal muscle physiology and affects physical exercise efficiency > M. Monica DENTICE (Naples, Italy)

10:30 AM • S10L1 • Current treatments and new perspectives in Charcot-Marie-Tooth neuropathies > D. Davide PAREYSON (Milano, Italy) 11:00 AM • S10L2 • Charcot-Marie-Tooth disease: an overview of genetic and phenotypic variability > T. Tanya STOJKOVIC (Paris, France) 11:30 AM • S10L3 • SCREEN4PN: Efficient Evaluation Of Therapeutic Compounds For Charcot-Marie-Tooth Disease Using Patient-Derived Induced Motor Neurons and Neuromuscular Organoids > V. Vincent TIMMERMAN (Antwerpen, Belgium) 11:45 AM • S10L4 • Revisit Of Patients With Phenotypic Hereditary Polyneuropathy Without Genetic Confirmation > L. Louise Sloth KODAL (Copenhagen, Denmark)

10:30 AM • S11L1 • Clinical trial readiness in limb girdle muscular dystrophies > J. Jordi DIAZ-MANERA (Newcastle Upon Tyne, UK) 11:00 AM • S11L2 • Development of gene therapy for three prevalent forms of LGMD > E. Evelyne GICQUEL (Evry-Courcouronnes, France) 11:30 AM • S11L3 • Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features > A. Alberto DAMBORENEA (Donostia-San Sebastián, Spain) 11:45 AM • S11L4 • Unraveling a Novel Form of Muscular Dystrophy Caused by Recessive SNUPN Mutations > M. Marwan NASHABAT (Istanbul, Turkey)

• SYMP4L1 • The Role of HDAC Inhibition as a Therapeutical Target in DMD > A. Annemieke AARTSMA-RUS (Leiden, The Netherlands) • SYMP4L2 • Assessing Milestones & Disease Progression in DMD > E. Eugenio MERCURI (Rome, Italy)

• SYMP5L0 • Welcome & Introduction > E. Eugenio MERCURI (Rome, Italy) • SYMP5L1 • A Closer Look at DMD > V. Volker STRAUB (Newcastle Upon Tyne, UK) • SYMP5L2 • Current and Developing Approaches to Treating DMD > A. Annemieke AARTSMA-RUS (Leiden, The Netherlands) • SYMP5L3 • What Lies on the Horizon of DMD Clinical Research? > E. Eugenio MERCURI (Rome, Italy) • SYMP5L4 • Final Discussion and Q&A With Audience

2:30 PM • S12L1 • A CRISPR-based mouse model of TPM3-related Congenital Fiber Type Disproportion (CFTD) recapitulates key features of the disease. > M. Matthias LAMBERT (Boston, USA) 2:33 PM • S12L2 • ME/CFS and Long COVID-19 Patient Sera induce Hypermetabolism while Impairing Contractile Force in a 3-D Model of Human Skeletal Muscle > S. Sheeza MUGHAL (Barcelona, Spain) 2:39 PM • S12L4 • Lost In Translation: Pathogenic translation of GGC repeats in novel and toxic proteins in Oculo-Pharyngo-Distal Myopathy (OPDM) > M. Manon BOIVIN (Illkirch, France) 2:42 PM • S12L5 • RyR1 content decrease-induced ER stress is a hallmark of myopathies > N. Nadège ZANOU (Lausanne) 2:45 PM • S12L6 • Elucidating CHCHD10 Mutant Phenotypes in Inducible Cell Models and Designing Effective Therapeutic Strategies > C. Christian LANTZ (Atglen, Pennsylvania, USA) 2:48 PM • S12L7 • PHF2 demethylase controls muscle stem cell fate modulating lipid droplets turnover > D. Delia CICCIARELLO (Lyon) 2:51 PM • S12L8 • Study of the role of muscle metabolism in Amyotrophic Lateral Sclerosis > F. Flore CHEGUILLAUME (Paris, France) 2:54 PM • S12L9 • Activation of the WNT-dependent fibrogenic program by C1s/r complement subunits in dystrophic muscle > S. Stefano BIRESSI (Trento, Italy) 2:57 PM • S12L10 • Muscle contributions to flunarizine-mediated beneficial effects in spinal muscular atrophy > S. Suzie LEFEBVRE (Paris, France) 3:00 PM • S12L11 • Imaging of muscle perfusion of dystrophic mice in situ with laser-speckle contrast analysis > L. Laurence NEFF (Geneva, Switzerland) 3:03 PM • S12L12 • Patients with Myotonic Dystrophy and GCC interruptions manifest late disease onset, greater proximal weakness, but similar neuromuscular, cardiac and CNS involvement as patients without interruptions > G. Gisela NOGALES GADEA (Barcelona, Spain) 3:06 PM • S12L13 • Live imaging reveals perturbed symmetric stem cell divisions in a mouse model of Duchenne Muscular Dystrophy > B. Brendan EVANO (Paris, France) 3:09 PM • S12L14 • Spatial restriction of dystrophin in skeletal muscle – implications for therapeutic interventions. > K. Katarzyna CHWALENIA (Oxford, UK) 3:12 PM • S12L15 • GDF5 overexpression improves pathophysiology of DMD in mdx mouse muscle > C. Christel GENTIL (Paris, France)

4:00 PM • S13L1 • Natural history studies : challenges and limitations > J-Y. Jean-Yves HOGREL (Paris, France) 4:30 PM • S13L2 • Natural history studies and clinical trial readiness: successes and future directions > L. Lindsay ALFANO (Columbus, USA) 5:00 PM • S13L3 • The validity of cardiopulmonary exercise testing for assessing aerobic capacity in neuromuscular diseases > E. Eric VOORN (Amsterdam, Netherlands) 5:15 PM • S13L4 • Longitudinal quantitative MRI of forearm and arm muscles in dysferlinopathy > H. Harmen REYNGOUDT (Paris, France)

4:00 PM • S14L1 • Clinical Interpretation of Titin Variants > M. Marco SAVARESE (Helsinki, Finland) 4:30 PM • S14L2 • Recessive titinopathy: recently emerged ‘titan’of the paediatric muscle disease world > E. Emily OATES (Sydney, Australia) 5:00 PM • S14L3 • Personalized genetic counselling in titinopathies: exon usage as the key to gain prognostic insights in the whole clinical spectrum > M. Maria Francesca DI FEO (Genova, Italy) 5:15 PM • S14L4 • Distal upper limb onset titinopathy evolves towards a hereditary myopathy with early respiratory failure (HMERF) phenotype. > M. Mario FUENTEALBA (Concepcion, Chile)

5:30 PM • SYMP6L1 • Welcome and Introductions 5:35 PM • SYMP6L2 • Burden of Disease and Role of Complement in MG > A. Anthony BÉHIN (Paris, France) 5:43 PM • SYMP6L3 • Complement inhibition as a target for MG treatment > D. Djillali ANNANE (Paris, France) 6:03 PM • SYMP6L4 • MG Treatment guidelines in the context of Clinical Practice in France > A. Anthony BÉHIN (Paris, France) 6:13 PM • SYMP6L5 • Summary and close 6:28 PM • SYMP6L6 • Discussion and Q&A

8:30 AM • S15L1 • Genome Editing for Duchenne Muscular Dystrophy > C. Charles GERSBACH (Durham, USA) 9:00 AM • S15L2 • N=1 DMD Gene Editing > R. Richard HORGAN (Woodbridge, CT, USA) 9:30 AM • S15L3 • Human iPS-based disease models and CRISPR-Cas technology for the development of genetic therapies for LMNA­-related skeletal muscle laminopathies > D. Daniel MOORE (London, UK) 9:45 AM • S15L4 • First correction by Prime editing of mutations in the RYR1 gene > J. Jacques P. TREMBLAY (Quebec, Canada)

10:30 AM • S16L1 • Update on genetic causes of rhabdomyolysis and diagnostic strategy > P. Pascal LAFORET (Paris, France) 11:00 AM • S16L2 • New facets of Pompe disease > B. Benedikt SCHOSER (Munich, Germany) 11:30 AM • S16L3 • Decoding the transcriptome of late-onset Pompe disease muscle at single nucleus resolution > A. Alexandra MONCEAU (Newcastle-upon-Tyne) 11:45 AM • S16L4 • Abnormal autophagy is a critical mechanism in TANGO2-related rhabdomyolysis > H. Hortense DE CALBIAC (Paris, France)

10:30 AM • S17L1 • Myositis classification for targeted treatments > O. Olivier BENVENISTE (Paris, France) 11:00 AM • S17L2 • Pathological features of myositis > I. Ichizo NISHINO (Kodaira, Japan) 11:30 AM • S17L3 • Absence of gene pathogenic variants and strong association with HLA-DRB1*11:01 in statin-naïve early-onset anti-HMG-CoA reductase necrotizing myopathy > L. Laura LLANSO CALDENTEY (Barcelona, Spain) 11:45 AM • S17L4 • Proteomic profiling to define IIM-associated marker proteins in cultured human myoblasts > A. Andreas ROOS (Dusseldorf, Germany)

• SYMP7L1 • Welcome and introduction • SYMP7L2 • What contributions does the SNDS make towards the definition of different populations of autoimmune myasthenia gravis? > C. Céline TARD (Lille, France) • SYMP7L3 • MyastheniaGravis, its Impact on QOL and Work in France (SPOON Study) : an innovative methodology to qualify patient needs. > M. Matthieu LUSIGNAN (Bordeaux, France)

2:30 PM • S18L1 • Emerging therapies for autoimmune myasthenia gravis > J. Jan VERSCHUUREN (Amsterdam, The Netherlands) 3:00 PM • S18L2 • Moving towards personalized medicine in Myasthenia Gravis through biomarkers and the power of physical exercise > A. Anna PUNGA (Uppsala, Sweden) 3:30 PM • S18L3 • Origin of the thymic interferon type I signature in myasthenia Gravis: role of endogenous nucleic acids > R. Rozen LE PANSE (Paris, France) 3:45 PM • S18L4 • Concomitant Corticosteroid Use in Ravulizumab-Treated Adults With Anti-Acetylcholine Receptor Antibody-Positive Generalized Myasthenia Gravis: Final Results From the Phase 3 CHAMPION MG Open-label Extension > D. Djillali ANNANE (Paris, France)

2:30 PM • S19L1 • Mitochondrial medicine: from mechanisms to treatments > R. Rita HORVATH (Cambridge, UK) 3:00 PM • S19L2 • Mitochondrial disorders: current trials and emerging therapy options > T. Thomas KLOPSTOCK (Muenchen, Germany) 3:30 PM • S19L3 • Mitochondrial Myopathy caused by TK2 deficiency: lessons from a large Brazilian cohort. > C. Christiane ARAUJO (Sao Paolo, Brazil) 3:45 PM • S19L4 • Dissection of mechanisms underlying the pathogenesis of Duchenne Muscular Dystrophy > E. Elena CANNONE (Brescia, Italy)

4:15 PM • S21L1 • Initial Data from the DELIVER Trial of DYNE-251 in Males with DMD Mutations Amenable to Exon 51 Skipping > E. Erwan DELAGE (Paris, France) 4:30 PM • S21L2 • Striking cardioprotective effects of AdipoRon in an aged mouse model of Duchenne Muscular Dystrophy > M. Michel ABOU-SAMRA (Brussels, Belgium) 4:45 PM • S21L3 • Optimising a multimodal pathway to discover genes involved in Satellite Cell-opathies: neuromuscular disorders caused by muscle stem cell dysfunction > P. Peter ZAMMIT (London, United Kingdom)