BANNER

PROGRAMME


  • 09:30 – 09:45 WELCOME SMA
    Nicole Gusset - SMA Europe President
    09:45 – 10:45 PATIENT PERSPECTIVE
    Spinal Muscular Atrophy: new horizons beyond the disease – FundAME and Eduardo Tizzano – Spain 

    SMA Europe’s evidence-based patient advocacy: Bridging the gap betweenclinical research and patient experience
    Yasemin Erbas – SMA Europe, Germany
    10:45 – 10:55  OPENING OF SCIENTIFIC & CLINICAL PROGRAMME
    Brunhilde Wirth, Chair of SMA Europe’s Scientific Advisory Board
    11:00 – 11:30   COFFEE
     11:30 – 13:00 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 

    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 nerves properties with quantitative MRI for Nusirersen treatment effects in SMA
    Louise Otto, University Medical Center Utrecht, The Netherlands
    13:10 – 14:10  LUNCH Symposium
    14:15 – 15:45 SESSION 2 – NEW PHENOTYPES AFTER THERAPY

    Chair: Eduardo Tizzano
    Invited Speaker’s talk: Valeria Sansone

    Motor unit recovery following SMN restoration in mouse models of spinal muscular atrophy
    Lyndsay Murray – University of Edinburgh, UK

    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

    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
    15:45 – 16:00 FLASH POSTER PRESENTATIONS (CLINICAL)

    PC13 - Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment
    Féline Scheijmans - UMC Utrecht Brain Center, The Netherlands

    PC14 – Assessment of nutritional status in children with spinal muscular atrophy on treatment with nusinersen
    Marianne Nordstrøm - University of Oslo, Norway

    PC17 - Part A results from the ongoing DEVOTE Study to explore higher dose nusinersen in SMA
    Samuel Ignacio Pascual - La Paz University Hospital, Spain

    PC52 - Improving genotype-phenotype prediction of SMA patients through the identification of SMN2 positive modifiers
    Laura Blasco- Pérez - Vall d´Hebron Hospital Barcelona, Spain

    PC53 - 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

    PC87 - Impact of COVID-19 Pandemic on the SMA Community: Physician and Community Insights
    Mary Curry - Cure SMA, USA
    16:00 – 17:30 CLINICAL POSTER SESSION (PC)
    17:30 – 18:30 PARALLEL WORKSHOPS

    NMJ in a dish
    Cécile Martinat

    Towards personalaised treatment
    Laurent Servais et al.
    19:30 WELCOME RECEPTION
  • 08:00 – 09:00  SYMPOSIUM
    09:10 – 10:40  SESSION 3 – DYSFUNCTION OF SENSORY-MOTOR CIRCUITS IN SMA

    Chair: Christian Simon
    Invited Speaker’s talk: George Mentis  - 30min talk

    Shared and distinct features of sensory-motor circuit pathology across mouse models of SMA
    Jannik M. Buttner, University of Leipzig, Germany 

    Human IPSC – derived cranial and spinal MN reveal transcriptional mechanisms between resistant and sensitive SMA MN
    Morgan Gazzola – 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 SM: focus on interneurons and projection
    Roberta Schellino, Università degli Studi di Torino, Italy
    11:00 – 11:30 COFFEE WITH PATIENT ORGANISATION POSTERS & SMA EUROPE STAND
    11:30 – 13:00  SESSION 4 – THERAPY DATA UPDATE

    Chair: Claudio Bruno
    Invited Speaker’s talk: Andreas Ziegler - 30min talk

    Onasemnogene Abeparvovec for Presymptomatic Infants with Spinal Muscular Atrophy and two copies of SMN2
    Francesco Muntoni, University College, London, UK 

    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 

    Swallowing evaluation in treated SMA patients - A pilot prospective Study
    Nicolas Deconinck - Hôpital Universitaire des Enfants Reine Fabiola, Belgium
    13:10 – 14:10  LUNCH Symposium
     14:15 – 15:45 SESSION 5 – SMN NETWORK AND BEYOND

    Chair: Charlotte Summer
    Invited Speaker’s talk: Umrao Monani - 30min talk

    The synergistic role of SMN and IF3e 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

    Post-translational Phosphorylation regulates key features of the Survival of Motoneuron (SMN) protein
    Nora Tula Detering, SMATHERIA GmbH, Germany 

    Synergistic beneficial effects of BIO101 in combination with antisense oligonucleotide therapy in severe SMA-like mice
    Cynthia Bézier - Université Sorbonne, Paris, France
    15:45 – 16:00 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
    Morgan Gazzola - 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 

    PS28 - Moxifloxacin rescues SMA phenotypes in animal and cell models by promoting SMN2 exon 7 inclusion
    Arturo López - 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 PRESENTATIONS (CLINICAL)

    PC13 - Inflammatory markers in cerebrospinal fluid of paediatric spinal muscular atrophy patients receiving nusinersen treatment
    Féline Scheijmans - UMC Utrecht Brain Center, The Netherlands

    PC14 – Assessment of nutritional status in children with spinal muscular atrophy on treatment with nusinersen
    Marianne Nordstrøm - University of Oslo, Norway

    PC17 - Part A results from the ongoing DEVOTE Study to explore higher dose nusinersen in SMA
    Samuel Ignacio Pascual - La Paz University Hospital, Spain

    PC52 - Improving genotype-phenotype prediction of SMA patients through the identification of SMN2 positive modifiers
    Laura Blasco- Pérez - Vall d´Hebron Hospital Barcelona, Spain

    PC53 - 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

    PC87 - Impact of COVID-19 Pandemic on the SMA Community: Physician and Community Insights
    Mary Curry - Cure SMA, USA
    16:00 – 17:30 SCIENTIFIC POSTER SESSION (PS)
    Coffee with fruits/cheese
    17:30 – 18:30 WORKSHOPS

    NBS: status quo, treatment management and decision
    Danilo Tiziano & Heike Koelbel

    Patient experience with therapies
    Sonia Messina & Renske Wadman
    19:30 GALA DINNER
  • 09:30 – 11:00  SESSION 6 - ORALLY ADMINISTERED TREATMENTS

    Chair: LUDO Van der Pol
    Invited Speaker’s talk: Giovanni Baranello - 30min talk

    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
    Özge Cetin - Keele University, UK 

    Type I PRMT inhibitor MS023 promotes SMN2 exon 7 inclusion and synergises with nusinersen to rescue the phenotype of SMA mice
    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 - 30min talk

    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
    Brunhilde Wirth and Tom Gillingwater 

    Wrap-up and highlights of the meeting - where do we go next?
    Tom Gillingwater 

    Closing: Nicole Gusset, SMA Europe
    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- under registration

    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
  • Symposia

    Friday
    13:10 to 14:10
    BIOGEN 
    Saturday
    8:00 to 9:00
    NOVARTIS GENE THERAPIES
    Exploring patient care in the era of newborn screening

    Saturday
    13:10 to 14:10
    ROCHE
    Opening the door for adults: Empowering the SMA community to improve care
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