Lo que nos traerá el Annual Meeting de la American Academy of Neurology

La AAN 2018 tendrá lugar desde hoy 21 de abril y hasta el 27 de abril. Es el evento más importante en Neurología en el mundo [probablemente]. El año pasado ya se dieron datos importantísimos para los pacientes con Atrofia Muscular Espinal y este año no esperamos menos.  En este año se presentarán al menos las siguientes conferencias, comunicaciones, pósteres:

22 de abril 2018

10:45 a.m.–11:15 a.m.
Sidney Carter Award in Child Neurology: Spinal Muscular Atrophy Is a Treatable Neurodegenerative Disease.

23 de abril

P2.322 Ambulatory function and fatigue in nusinersen-treated children with spinal muscular atrophy. —Jacqueline Montes, Sally Dunaway, Elena Mazzone, Amy Pasternak, Allan Glanzman, Richard Finkel, Basil Darras, Francesco Muntoni, Eugenio Mercuri, Darryl De Vivo, Kathie Bishop, Eugene Schneider, Frank Bennett, Richard Foster, Wildon Farwell

P2.333 Cervical Puncture to Deliver Nusinersen in Patients with Spinal Muscular Atrophy and no Lumbar Access—Aravindhan Veerapandiyan, Ria Pal, Stephen DAmbrosio, Iris Young, Katy Eichinger, Erin Collins, Per-Lennart Westesson, Jennifer Kwon, Emma Ciafaloni

P4.452 Reliability of Spinal Muscular Atrophy Functional Rating Scale (SMAFRS) in Ambulatory Adults with Spinal Muscular Atrophy. —Bakri Elsheikh, Wendy King, William Arnold, John Kissel

P4.453 Updated pharmacodynamic and safety data from SUNFISH Part 1, a study evaluating the oral SMN2 splicing modifier RG7916 in patients with Type 2 or 3 spinal muscular atrophy —Eugenio Mercuri, Giovanni Baranello, Jan Kirschner, Laurent Servais, Nathalie Goemans, Maria Carmela Pera, Anne Marquet, Gillian Armstrong, Heidemarie Kletzl, Marianne Gerber, Christian Czech, Yumi Cleary, Margaret Chan, Stephan Nave, Ksenija Gorni, Omar Khwaja

P4.461 Motor Unit Number Index (MUNIX) in Spinal Muscular Atrophy (SMA) —Jasmine Forte, Sumit Verma, Durga Shah

P4.464 Use of Ommaya Reservoir with a Thoracic Spinal Catheter for Intrathecal Delivery of Nusinersen in a Patient with Spinal Muscular Atrophy Type 2 —Arpita Lakhotia, Sonam Bhalla, Elizabeth Doll, Willam Gump

25 de Abril de 2018

AVXS-101 Phase 1 Gene Replacement Therapy

Clinical Trial in SMA Type 1: Continued Event Free Survival and Achievement of Developmental Milestones — Jerry Mendell, Samiah Al-Zaidy, Richard Shell, William Arnold, Louise Rodino-Klapac, Thomas Prior, Linda Lowes, Lindsay Alfano, K Berry, Kathleen Church, John Kissel, Sukumar Nagendran, James L’Italien, Douglas M. Sproule, Courtney Wells, Arthur Burghes, Kevin D. Foust, Kathrin Meyer, Shibi Likhite, Brian Kaspar

1:12 p.m. S29.002

AVXS-101 Phase 1 Gene Replacement Therapy Clinical Trial in SMA Type 1: Patients Treated Early with the Proposed Therapeutic Dose Were Able to Sit Unassisted at a Younger Age —Lindsay Alfano, Linda Lowes, Samiah Al-Zaidy, Richard Shell, William Arnold, Louise Rodino-Klapac, Thomas Prior, Katherine Berry, Kathleen Church, John Kissel, Sukumar Nagendran, James L’Italien, Douglas M. Sproule, Courtney Wells, Arthur Burghes, Kevin D. Foust, Kathrin Meyer, Shibi Likhite, Brian Kaspar, Jerry Mendell

1:24 p.m. S29.003

AVXS-101 Phase 1 Gene Replacement Therapy Clinical Trial in SMA Type 1: Continued Independence from Nutritional and Ventilatory Support in Patients Dosed Early in Disease Progression —Richard Shell, Samiah Al-Zaidy, William Arnold, Louise Rodino-Klapac, Thomas Prior, Linda Lowes, Lindsay Alfano,

K Berry, Kavitha Kotha, Kathleen Church, John Kissel, Sukumar Nagendran, James L’Italien, Douglas M. Sproule, Courtney Wells, Arthur Burghes, Kevin D. Foust, Kathrin Meyer, Shibi Likhite, Brian Kaspar, Jerry Mendell

1:36 p.m. S29.004

AVXS-101 Trial Experience: CHOP-INTEND Detects Early Improvements in Infants with SMA Type 1 but is not Sensitive to Continued Advances in Motor Function —Linda Lowes, Lindsay Alfano, Megan Iammarino, Natalie Miller, Melissa Menier, Jessica Cardenas, Douglas M. Sproule, Sukumar Nagendran, Samiah Al-Zaidy, Jerry Mendell

1:48 p.m. S29.005

A Subset of Axonal and Synaptic Genes with Altered Expression/Splicing in SMA-MNs Harbours a Common Motif that Interacts with SMN/SYNCRIP Complex — Federica Rizzo, Monica Nizzardo, Shikha Vashisht, Valentina Melzi, Irene Faravelli, Sabrina Salani, Monica Bucchia, Michela Taiana, Andreina Bordoni, Nereo Bresolin, Uberto Pozzoli, Giacomo Comi, Stefania Corti