SMA 2022 - PROGRAMME

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 20^th

13:30 to 15:30	NOVARTIS GENE THERAPIES EVENT: How to Build a Joint Rehabilitation Programme with Parents and Patients- under registration Register Now
15:30 to 18:30	ROCHE EVENT: Rehabilitation of Adults Living with SMA Register Now
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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