• 9:30 - 9:45 Welcome SMA
    Europe President - Nicole Gusset
    9:45 - 10:45 Patient Perspective Session & Local Expert
    Yasemin Erbas
    Local scientific/ clinical expert (Spain)
    10:45 - 10.55 Opening of scientific & clinical programme - Brunhilde Wirth, Chair of SAB
    11.00 - 11:20 COFFEE - with patient organisation posters & SMA Europe stand
    11.20 - 12:50 Session 1 - Models, pathways and muscle regeneration
    Chair: Cécile Martinat
    Invited speaker’s talk - Michela Rigoni
    • Human Spinal Cord like Organoids as a new model to study Spinal Muscular Atropy
      Paola Rinchetti - University of Milan, Italy
    • Impaired BDNF / TrkB signaling in SMA mouse models corresponds to the defective cytoskeleton
      Luisa Hennlein - University Hospital Wuerzburg, Germany
    • B-Raf / lin-45 is a signaling hub of new potential SMA target genes
      Federica Cieri - University of Naples Federico II, Italy
    • Mapping of muscle and nerve properties with quantitative MRI for nusinersen treatment effects in SMA
      Louise Otto - University Medical Center Utrecht, The Netherlands
    13:00 - 14:00 LUNCH - Sponsor symposium: “The Motor Pool in SMA”
    14:00 - 15:30 Session 2 - New phenotypes after therapy
    Chair: Eduardo Tizzano
    Invited speaker’s talk - Valeria Sansone
    • Bulbar Function progression in SMA type 1 children treated with nusinersen
      Harriet Weststrate - UCL Great Ormond Street Institute of Child Health, UK
    • Swallowing evaluation in treated SMA patients - A pilot prospective Study
      Nicolas Deconinck - Hôpital Universitaire des Enfants Reine Fabiola, Belgium
    • Aerobic capacity improves in adults with spinal muscular atrophy treated with nusinersen
      Jacqueline montes - Columbia University Irving Medical Center, USA
    • Nusinersen Effect in Presymptomatic SMA Infants: 4.9 Year Interim of the NURTURE Study
      Janbernd Kirschner - University Hospital Bonn, Germany
    15.30 - 15.45 Flash poster presentations (clinical)
    • PC9 - Inflammatory markers in cerebrospinal fluid of pediatric spinal muscular atrophy patients receiving nusinersen treatment
      Féline Scheijmans - UMC Utrecht Brain Center, The Netherlands
    • PC10 - Assessment of nutritional status in children with Spinal Muscular Atrophy on treatment with Nusinersen
      Marianne Nordstrøm - University of Oslo, Norway
    • PC14 - Part A Results from the Ongoing DEVOTE Study to Explore Higher Dose Nusinersen in SMA
      Samuel Ignacio Pascual - La Paz University Hospital, Spain
    • PC24 - Improving genotype-phenotype prediction of SMA patients through the identification of SMN2 positive modifiers
      Laura Blasco-Pérez - Vall d´Hebron Hospital Barcelona, Spain
    • PC26 - Using functional phenotypes and not type to chart physical ability in SMA 2 and 3
      Danielle Ramsey - UCL Great Ormond Street Institute of Child Health & University of Suffolk, UK
    • PC62 - Results from the Cure SMA COVID-19 Impact Surveys
      Lisa Belter - Cure SMA, USA
    • PC63 - Synergistic beneficial effects of BIO101 in combination with antisense oligonucleotide therapy in severe SMA-like mice
      Cynthia Bezier – Sorbonne University, France
    15.45 - 16.00
    16.00 - 17.30
    Flash poster Breaking News
    16.00 - 17.30 Clinical poster session (PC) - Poster session 1 - with coffee with fruits/cheese
    17.30 - 18.30 Round table/Workshops
    NMJ in a dish - Cécile Martinat & Stefania Corti
    Towards personalised treatment - Richard Finkel et al. (Round table)
    19:30 Welcome reception - Cocktail hour
  • 8:00 - 9:00 Sponsor symposium
    9:10 - 10:40 Session 3 - Dysfunction of sensory-motor circuits in SMA
    Chair: Christian Simon
    Invited speaker’s talk - George Mentis
    • Shared and distinct features of sensory-motor circuit pathology across mouse models of SMA
      Jannik M. Buttner - Univerity of Leipzig, Germany
    • Human iPSC-derived cranial and spinal MN reveal transcriptional mechanisms between resistant and sensitive SMA MN
      Camille Januel - I-STEM, France
    • Spatio-temporal organization of SMN in axons and nerve terminals of wild-type and SMA mouse models
      Lucia Tabares - University of Seville, Spain
    • Cortical alterations in a murine model of SMA: focus on interneurons and projection neurons
      Roberta Schellino - Università degli Studi di Torino, Italy
    11.00 - 11:20 COFFEE - with patient organisation posters & SMA Europe stand
    11.20 - 12:50 Session 4 - Therapy data update
    Chair: Claudio Bruno
    Invited speaker’s talk - Andreas Ziegler

    • Onasemnogene Abeparvovec for Presymptomatic Infants with Spinal Muscular Atrophy and Two Copies of SMN2
      Francesco Muntoni - University College London, UK
    • Newborn screening for SMA in Italy: from the bi-regional pilot experience to the nationwide extension
      Emanuela Abiusi - Catholic University and Fondazione Policlinico Universitario IRCCS “A. Gemelli”, Italy
    • SMArtCARE – Real-World-Data on patients with early-onset SMA under treatment with nusinersen
      Astrid Pechmann - University of Freiburg, Germany
    • Apitegromab in SMA: An Analysis of PK / PD Relationships to Efficacy from the TOPAZ Trial
      Basil T. Darras - Boston Children's Hospital, USA
    13:00 - 14:00 LUNCH Sponsor symposium: Opening the door: Let's have an adult conversation about SMA
    14:00 - 15:30 Session 5 - SMN network and beyond
    Chair: Charlotte Sumner
    Invited speaker’s talk - Umrao Monani

    • The synergistic role of SMN and eIF3e in translation regulation
      Deborah Donzel - Institute of Biophysics, CNR Unit, Trento, Italy
    • Characterization of STIM1 and the Store-Operated Calcium Entry in the Pathology of Spinal Muscular Atrophy
      Tamás Schmidt - Institute of Human Genetics, University Hospital of Cologne, Germany
    • Proteomic profiling of fibroblasts differentiates patients with severe, intermediate and mild spinal muscular atrophy
      Sharon owen - Keele University & Wolfson CIND, UK
    • Post-translational phosphorylation regulates key features of the Survival of Motoneuron (SMN) protein
      Nora Tula Detering - SMATHERIA gGmbH, Germany
    15.30 - 15.45 Flash poster presentations (scientific)
    • PS2 - Investigating the GHRH agonist MR409 therpeutic role in a mouse model of spinal muscular atrophy
      Anna Caretto - University of Turin, Italy
    • PS13 - JNK3 signaling pathway inhibition promotes MN and muscle improvement in a humanized SMA NMJ model
      Camille Januel - ISTEM, France
    • PS15 - Centrally and peripherally delivered AAV9-SMN target different pathomechanisms in a mouse model of SMA
      Aoife Reilly - Ottawa Hospital Research Institute, Canada
    • PS17 - Dysregulation of sarcomere and costamere proteins contributes to cardiac pathology in two SMA mouse models
      Heidi Fuller - Keele University, UK
    • PS28 - Moxifloxacin rescues SMA phenotypes in animal and cell models by promoting SMN2 exon 7 inclusion
      Piotr Konieczny - University of Valencia, Spain
    • PS30 - Cell-autonomous versus non-cell-autonomous disease mechanisms in spinal muscular atrophy with respiratory distress type 1 (SMARD1)
      Sibylle Jablonka - University Hospital Würzburg, Germany
    • PS34 - Multi-omics approaches for SMA decipher molecular signaling signatures in spinal cord and peripheral organs
      Ines Tapken - SMATHERIA gGmbH, Germany
    15.45 - 16.00 Flash poster Breaking news
    16.00 - 17.30 Scientific poster session (PS) - with coffee with fruits/cheese
    17.30 - 18.30 Workshops
    NBS: status quo, treatment management and decison - Danilo Tiziano & Heike

    Patient experience with therapies - Sonia Messina & Renske Wadman
    19:30 GALA DINNER
  • 8:00 - 9:00 Sponsor Symposium
    9:10 - 10:40 Session 6 - Orally administered treatments
    Chair - Ludo van der Pol
    Invited speaker’s talk - Giovanni Baranello
    • RAINBOWFISH: Preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic SMA
      Laurent Servais - University of Oxford, UK
    • SUNFISH: 3-year efficacy and safety of risdiplam in Types 2 and 3 SMA
      Andres Nascimento - Hospital Sant Joan de Déu, Spain
    • Investigating The Therapeutic Potential of Pioglitazone Treat Muscle and Metabolic Pathologies in SMA
      Ozge Cetin - Keele University, UK
    • Protein arginine methyltransferase inhibitor increases SMN levels and improves survival in severe SMA mouse model
      Anna Kordala - University of Oxford, UK
    11.00 - 11:30 COFFEE - with patient organisation posters & SMA Europe stand
    11.30 - 13:00 Session 7 - non 5q-SMA
    Chair: Brunhilde Wirth
    Invited speaker’s talk - Dr. Mert Karakaya

    • Sensory-motor circuit defects in a mouse model for spinal muscular atrophy with respiratory distress type1
      Katharina S. Apel - Leipzig University, German
    • Gene therapy of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)
      Jérôme Denard - Généthon, France
    • Pathway-level perturbations link the pre-symptomatic synaptic proteome in SMA and multiple forms of ALS
      Rachel Kline - Roslin Institute and Euan MacDonald Centre for Motor Neuron Disease Research, UK
    • hnRNP Q / hrpr-1 rescues neurodegeneration via RTN / ret-1 in a C. elegans SMA model
      Federica La Rocca - University of Campania “L. Vanvitelli”, Caserta, Italy
    13:00 - 13:30 Grab a lunch box
    13:30 - 14:30 Award ceremony and closing talks
    Chairs: Brunhilde Wirth and Tom Gillingwater
    Award ceremony: best oral presentation, best three posters
    Wrap-up and highlights of the meeting, where do we go next - Tom Gillingwater
    Closing - SMA Europe - Nicole Gusset
    14:30 CLOSE
  • THURSDAY 20th

    13:30 to 15:30 NOVARTIS GENE THERAPIES EVENT: How to Build a Joint Rehabilitation Programme with Parents and Patients
    15:30 to 18:30 ROCHE EVENT: Rehabilitation of Adults Living with SMA
    18:00 to 20:30 Fundame event under invitation: Spanish access to treatment, new horizons
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