PROGRAMME
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9:30 - 9:45 Welcome SMA
Europe President - Nicole Gusset9:45 - 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
Louise 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 - Biogen 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 - 17.30Flash 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 - Human Spinal Cord like Organoids as a new model to study Spinal Muscular Atropy
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8:00 - 9:00 Novartis Gene Therapies symposium: Physical Therapy Treatment Essentials in Spinal Muscular Atrophy (SMA): New and old standards of care 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 - Roche 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
Koelbel
Patient experience with therapies - Sonia Messina & Renske Wadman19:30 GALA DINNER - Shared and distinct features of sensory-motor circuit pathology across mouse models of SMA
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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 three talks, best three posters
Wrap-up and highlights of the meeting, where do we go next - Tom Gillingwater
Closing - SMA Europe - Nicole Gusset14:30 CLOSE 15:00 Event about SMA nad Nutrition (organized by Roche) - RAINBOWFISH: Preliminary efficacy and safety data in risdiplam-treated infants with presymptomatic SMA
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THURSDAY 20th
Morning to 13:00 ROCHE EVENT: Training focused on adult PT 13:30 to 15:00 NGT EVENT: Pediatric rehabilitation 16:00 to 17:30 ROCHE EVENT: PT for adult living with SMA 18:00 to 20:30 Fundame event under invitation: Spanish access to treatment