PROGRAMME
-
09:30 – 09:45 WELCOME SMA
Nicole Gusset - SMA Europe President09:45 – 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, Germany10:45 – 10:55 OPENING OF SCIENTIFIC & CLINICAL PROGRAMME
Brunhilde Wirth, Chair of SMA Europe’s Scientific Advisory Board11:00 – 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 Netherlands13:10 – 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”, Italy15:45 – 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, USA16:00 – 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, Italy11:00 – 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, Belgium13:10 – 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, France15:45 – 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, Germany15:45 – 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, USA16:00 – 17:30 SCIENTIFIC POSTER SESSION (PS)
Coffee with fruits/cheese17:30 – 18:30 WORKSHOPS
NBS: status quo, treatment management and decision
Danilo Tiziano & Heike Koelbel
Patient experience with therapies
Sonia Messina & Renske Wadman19:30 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, UK11:00 – 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, Italy13:00 – 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 Europe14:30 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 14:10BIOGEN Saturday
8:00 to 9:00NOVARTIS GENE THERAPIES
Exploring patient care in the era of newborn screeningSaturday
13:10 to 14:10ROCHE
Opening the door for adults: Empowering the SMA community to improve care