SMA 2022 - PROGRAMME

PROGRAMME

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 - 11:30	COFFEE - with patient organisation posters & SMA Europe stand
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, 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: Disease Evolution – Therapeutic Windows – Capacity for Improvement
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
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 - 11:30	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 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
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 Wadman
19:30	GALA DINNER

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 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 - Albena Jordanova 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 Gusset
14:30	CLOSE
14:45	External meeting FundAME Roundtable on Challenges and opportunities for a treatment plan for Spanish SMA patients