Researcher Mtg Event Title

21st International SMA Researcher Meeting

June 29- July 1, 2017
Disney's Contemporary Resort | Orlando, FL

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Agenda

21st Annual SMA Researcher Meeting

Thursday June 29, 2017

8:30 AM Welcome from Jill Jarecki PhD, Chief Scientific Officer, Cure SMA

Special Session: The Role of Fatigue and Muscle Weakness in SMA with Therapeutic Implications.

Session Moderator, Thomas Crawford MD, Professor of Neurology and Pediatrics, Johns Hopkins School of Medicine.

The SMA field has made major therapeutic advances with SMN enhancing approaches. The greatest impact from this therapeutic approach will likely require early treatment. The goal of this session is to discuss novel concepts that could result in greater motor and muscle function at advanced stages of SMA. In fact, many older SMA patients cite fatigue and endurance as a significant concern, yet the biological origin as well as the treatment options are poorly understood. The session will discuss fatigue and muscle weakness from a clinical and biological perspective, breaking down the potential role of the different components of the motor unit. It will include two presentations about fatigue at the neuromuscular junction from an electrophysiological perspective and muscle pathology in SMA will be explored. Therapeutic strategies to enhance muscle or motor neuron function will be examined in the specific context of the lowered numbers of motor neuron inputs that are found in later stages of SMA. The session will close with a discussion on how these therapeutic approaches might be utilized in combination with the SMN enhancing drugs and how to successfully measure fatigue and muscle endurance in clinical trials.

8:35 AM Introduction of Fatigue and Muscle Endurance in SMA Thomas Crawford, MD, Professor of Neurology and Pediatrics, Johns Hopkins School of Medicine

8:50 AM Clinical Observations of Fatigue & Endurance in SMA Jacqueline Montes PT, EdD, NCS, Assistant Professor of Clinical Rehabilitation & Regenerative Medicine in Neurology, Columbia University

9:15 AM Overview of Motor Unit Dysfunction Leading to Muscle Weakness and Fatigue: Relevance to Observed Electrophysiological Defects in SMA Mark Rich MD, PhD, Professor of Neuroscience, Cell Biology, & Physiology at Wright State University

9:40 AM: Enhancement of Motor Neuron Growth, Repair and Sprouting Tessa Gordon PhD, Professor Emeritus, University of Alberta, Senior Scientist, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada

Break

10:35 AM Muscle Defects in Mouse Models of SMA with Implications to Fatigue and Endurance Rashmi Kothary PhD, Deputy Scientific Director at the Ottawa Hospital Research Institute

11:00 AM Overview of NMJ and Muscle Pathology in Human SMA Victor Dubowitz MD, PhD, FRCP, FRCPCH, Emeritus Professor of Pediatrics at the University of London Imperial College School of Medicine

11:25 Therapeutic Strategies to Treat Fatigue, Endurance, and Muscle Weakness in SMA Kelly Howell PhD, Scientist at The SMA Foundation

11:50 PM Panel Discussion led by Session Moderator, Thomas Crawford MD.

12:30 PM Lunch

1:40 PM Research Funding Panel
Session Moderator, Elliot Androphy MD, Kampen-Norins Professor and Chair of the Department of Dermatology, Indiana University School of Medicine

Charlotte Sumner PhD, Associate Professor, Departments of Neurology and Neuroscience, Johns Hopkins Medical Institute

John D. Porter PhD, Chief Science Officer, Myotonic Dystrophy Foundation, Cure SMA Board of Directors

Glen Nuckolls PhD, Program Director, Neurogenetics, NINDS

Regulation of Splicing and SMN Protein Expression
Session Moderator, Arthur Burghes PhD

2:10 PM Friedrich Metzger: Binding to a Novel RNA-protein Complex Creates Specificity for Small Molecule SMN2 Splicing Modifiers

2:30 PM Antoine Clery: Targeting Splicing Activators as a New Strategy to Cure Spinal Muscular Atrophy (SMA)

2:50 PM John Staropoli: SMN Deficiency Causes Widespread Intron Retention, R-loop Formation, and DNA damage: A Unifying Model for Severe SMA

3:10 PM Yimin Hua: Incomplete Conversion from SMN1 to SMN2 Causes Phenotypic Discordance in SMA Patients

3:30 PM Utz Fischer: Regulatory Cues Modulating the Activity of SMN in Human Cells

3:50 PM Francesco Lotti: Sumoylation Regulates the Assembly and Activity of the SMN Complex

4:15 PM Poster Session A and Cocktail Reception
Odd Numbered Posters Presented

6:15 PM Meet and Greet with SMA Families
Annual Relay Race for Researchers and Kids

Friday June 30, 2017

Identification of Candidate Therapeutic Targets and Disease,
Modifiers 1
Session Moderator, Samuel Pfaff PhD

8:30 AM Christine Beattie:The RNA binding protein HuD Rescues Deficient Motoneuron Development Caused by Low Levels of SMN

8:50 AM Stefania Corti:SMN Deficiency Impairs its Interaction with hnRNP Proteins Altering Expression and Splicing of Axonal and Synaptic Genes in Spinal Muscular Atrophy

9:10 AM Yong-Chao Ma:Rescuing Mitochondria and Motor Neuron Defects in SMA by Mitigating Aberrant Cdk5 Activation

9:30 AM Meaghan Van Alstyne:Converging Mechanisms of p53 Activation Underlie Selective Degeneration of Motor Neurons in SMA

9:50 AM Brunhilde Wirth: Neurocalcin Delta, A Novel Protective Modifier for Spinal Muscular Atrophy: A Full Story from Gene Identification to Therapy Break

Identification of Candidate Therapeutic Targets and Disease
Modifiers 2
Session Moderator, Adrian Krainer PhD

10:40 AM Melissa Bowerman: SMN Around the Clock: Circadian Dysregulation in SMA Metabolic Tissues

11:00 AM Marc-Olivier Deguise: Immune Dysregulation Contributes to Disease Pathogenesis in Spinal Muscular Atrophy Mice

11:20 AM Ashlyn Spring: Can Fruit Flies have Spinal Muscular Atrophy? Modeling SMA-causing Patient Mutations in the Fruit Fly Drosophila Melanogaster

11:40 PM Mendell Rimer: Testing for Nerve Sprouting Capacity in Pharmacological SMA Model Mice

12:00 PM Lunch

12:50 PM Poster Session B
Even Numbered Posters Presented

Clinical Research Studies for SMA
Session Moderator, Kathryn Swoboda MD

2:50 PM Jacqueline Montes: Age-related Patterns of Progression in Ambulatory Function in Spinal Muscular Atrophy

3:10 PM Linda Lowes: Utility of ACTIVE Workspace Volume as a Clinically Meaningful Measure of Upper Extremity Function in Individuals with Neuromuscular Disorders

3:30 PM Christian Czech: MRI Muscle Imaging and Correlation to Motor Function in SMA Patients

3:50 PM Bart Bartels: Fatigability in SMA: Endurance Capacity and EMG Response

4:10 PM Seward Rutkove: Electrical Impedance Myography as a Biomarker in Infants with SMA: A Deep Dive into the NeuroNEXT Data

4:30 PM Robert Vogt: Recent Developments in Laboratory Practices to Screen Newborn Dried Blood Spots for SMA Genetic Risk: Analytical Methods, Quality Control, and Inter-Laboratory Evaluation

4:50 PM John Staropoli: Spinal Muscular Atrophy (SMA) Newborn Screening Rationale for Regional and National Adoption

7:00 PM Family Friendly Poster Session with SMA Families
Pre-selected researchers will present posters to SMA families. All researchers all welcome to attend and talk one-on-one with families about SMA research.

Saturday July 1, 2017

8:00 AM Poster Highlights
Session Moderator, Umrao Monani PhD

SMA Therapy Development
Session Moderator, Stephen Kolb MD, PhD

8:50 AM Kimberly Long: Inhibition of Myostatin Activation by SRK-015 Promotes Muscle Strength in a Therapeutic Mouse Model of SMA

9:10 AM Jia Li: ACE-2494, a Systemically-Acting GDF Ligand Trap, Preserves Both Muscle Strength and Bone Mass in 2 Murine Models of Motor Neuron Diseases: Spinal Muscular Atrophy (SMA) and Amyotrophic Lateral Sclerosis (ALS)

9:30 AM Stacy Rudnicki: Clinical Trial Update of CY 5021: CK-2127107, a Selective Activator of the Fast Skeletal Muscle Troponin Complex, for the Potential Treatment of Spinal Muscular Atrophy

9:50 AM Eugenio Mercuri: Clinical Studies of RG7916 in Patients with Spinal Muscular Atrophy: Study Update

10:10 AM Lawrence Charnas: Novartis Clinical Trial Update

10:30 AM Richard Finkel: Nusinersen Demonstrates Efficacy in Infants With and Without Permanent Ventilation: Final Results from the ENDEAR Study

10:50 AM Thomas Crawford: Efficacy and Safety of Nusinersen in Genetically Diagnosed Infants with Presymptomatic Spinal Muscular Atrophy (SMA): Results from the Second Interim Analysis of the Ongoing, Phase 2 NURTURE Study

11:10 AM Eugenio Mercuri: Efficacy and Safety of Nusinersen in Children with Later-Onset Spinal Muscular Atrophy (SMA): End of Study Results from the Phase 3 CHERISH Study

11:30 AM Jerry Mendell: AVXS-101 Phase 1 Gene Therapy Clinical Trial in SMA Type 1: Event Free Survival and Achievement of Developmental Milestones

11:50 AM Closing Remarks from Jackie Glascock PhD, Scientific Program Manager, Cure SMA

Meeting Adjourns

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