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10:00
Sharing real-world evidence and practical guidance for SMA treatment with Gene Therapy! Our expert faculty will demonstrate the growing evidence of efficacy and safety outcomes following gene therapy administration, with a focus on bulbar function. We will discuss strategies to overcome challenges associated with gene therapy and our faculty will conclude the session by sharing practical guidance for managing patients receiving gene therapy. Audience members will also have the opportunity to ask our expert panel questions within a closing panel discussion.
Ends at 11:30
Late-onset Pompe disease (LOPD) is characterized by variably progressive skeletal muscle dysfunction and respiratory insufficiency. Due to the multisystemic and heterogeneous nature of LOPD, individualized, comprehensive and holistic assessments help inform shared management decisions.
In this cutting-edge symposium sponsored by Amicus Therapeutics, subject matter experts Dr Angela Genge (McGill University, Canada), Prof Kristl Claeys (University Hospitals Leuven, Belgium) and Prof Benedikt Schoser (Ludwig-Maximilians-Universität München, Germany) will be joined by Alex B. (an experienced advocate and person living with LOPD). Together, they will discuss the importance of shared decision-making in the management of LOPD and analyse traditional and investigational approaches that may be used to monitor signs of disease activity. Alex B. will also share a personal perspective on how LOPD can impact quality of life and everyday activities.
The event will close with a Q&A, with our expert panel answering your questions.
Ends at 11:30
11:45
12:00
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Hanns is a neurologist and clinical academic specializing in genetic neuromuscular disorders and rare disease. He is a Senior Scientist at the Children’s Hospital of Eastern Ontario (CHEO) Research Institute. He also holds appointments as Professor of Neurology in the University of Ottawa Faculty of Medicine and the Department of Medicine, Division of Neurology at The Ottawa Hospital. Dr Lochmuller has been awarded a Tier 1 Canada Research Chair in Neuromuscular Genomics and Health.
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Dr Oates is a clinical geneticist and neurogenetics consultant. She has over 13 years of experience in the diagnosis and management of children with neuromuscular disorders, heads the UNSW Medical Genomics Team, and specialises in the characterisation of new disorders and the use of advanced sequencing technologies for gene discovery.
Dr. Jim Dowling
Hospital for Sick Children
Dr. Dowling is a clinician-scientist focused on gene discovery and therapy development for childhood muscle diseases. He is a staff clinician and senior scientist at the Hospital for Sick Children, a Professor of Paediatrics and Molecular Genetics at the University of Toronto, and the Mogford Campbell Family Chair of Paediatric Neuroscience.
Prof.Dr. Nicol Voermans
Radboud University Medical Centre
Nicol Voermans has been working in the field of neuromuscular disorders for over 15 years. Her current research focuses on clinical and genetic features of facioscapulohumeral muscular dystrophy, both in childhood and adulthood.
Ends at 16:00
20:30
Join an expert-guided exploration of DMD from early diagnosis through disease heterogeneity followed by the utilization of natural history cohorts and disease modeling in clinical trials.
Ends at 22:00
10:00
An expert panel chaired by Prof Eugenio Mercuri (Italy) will discuss progress in the management of paediatric SMA and advances in gene therapy for DMD. Key topics in the session will include the importance of early detection through newborn screening for SMA, progress in existing and emerging disease modifying treatments for SMA, an update on gene therapy trials in DMD, and clinically meaningful endpoints that address heterogeneity in evolving clinical DMD phenotypes.
Ends at 11:30
SMN restoring therapies are transforming patient outcomes in SMA. However, variability in treatment response at the individual level remains striking. We explore what is known about the genesis, degeneration and potential resurrection of the motor neuron in SMA, the host and intervention factors that may modify treatment response at the individual level, and the rationale to investigate strategies to optimise these responses.
Ends at 11:30
12:15
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The Burgess lab uses mouse models of neuromuscular and neurodevelopmental disorders to understand disease mechanisms and to perform preclinical studies.
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Neurologist and neurophysiologist, mainly focuses on inherited neuropathies and neuromuscular disorders, phenotype-genotype correlations and gene discovery.
Kate Eichinger
University of Rochester Medical Center
I am a clinician and clinical researcher at the University of Rochester. I am involved in selection and standardization of outcome measures for studies involving individuals with neuromuscular conditions. My interests are in promoting health and wellness and optimizing outcome measures for clinical care and research.
Md Payam Mohassel
Johns Hopkins University School of Medicine
Dr. Mohassel is an Associate Professor of Neurology at Johns Hopkins University School of Medicine. Dr. Mohassel’s research focuses on translational studies of neuromuscular disorders, and it spans gene discovery efforts, mechanistic studies to identify therapeutic targets, and early phase interventional clinical trials.
Ends at 13:45
14:15
16:30
This symposium will showcase the latest clinical data from Study 041 and the STRIDE Registry; these studies offer promising results for the treatment of patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). The importance of early and continuous care throughout the disease continuum and how the multidisciplinary management of patients with DMD should evolve through disease milestones, will also be discussed.
Ends at 18:00
10:30
The symposium will explore how targeting fast muscle myosin could potentially protect muscle in Duchenne and Becker muscular dystrophy. The damaging consequences of muscle contraction without functional dystrophin will be presented by Dr. Alan Russell on behalf of Dr. Lee Sweeney. Dr. John Vissing will discuss the impact of muscle contraction and exercise on biomarkers of fast muscle fiber damage in dystrophinopathies and other muscular dystrophies. Dr. Craig McDonald will discuss the clinical course of Becker muscular dystrophy and potential strategies for clinical trials. Dr. Alan Russell will discuss identification of a fast myosin modulator to disconnect muscle injury from muscle contraction in dystrophinopathies to circumvent the structural stress caused by loss of dystrophin in Duchenne and Becker muscular dystrophy. Lastly, Dr. Joanne Donovan will discuss most recent findings from clinical studies with EDG-5506 a novel, first-in-class, small molecule for the treatment of dystrophinopathies as well as other muscular dystrophies, including 6-month interim results from the ongoing ARCH study of EDG-5506 in adults with Becker muscular dystrophy.
Ends at 11:30
11:45
Frédérique Magdinier
Aix-Marseille Université - INSERM
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Dr David Pareyson is a Clinical Neurologist working at the Fondazione IRCCS Istituto Neurologico C.Besta, Milan-Italy. His main interest is clinical research on neurological rare diseases, particularly Charcot-Marie-Tooth disease and related neuropathies. He is or has been Chair (CMTR, ASNP) or Board Member (ENS, PNS, CMTR, EURO-NMD ERN) of National/ International Societies/Committees.
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Sharif Tabebordbar is currently co-founder and Chief Scientific Officer (CSO) of Kate Therapeutics, a San Diego based gene therapy company focused on developing AAV-mediated therapies for genetic muscle disease. Dr. Tabebordbar received his Ph.D. in developmental and regenerative biology from Harvard and has developed novel technologies that enable tissue-targeted viral gene delivery.
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Michael Rudnicki is a Senior Scientist and the Director of the Regenerative Medicine Program and the Sprott Centre for Stem Cell Research at the Ottawa Hospital Research Institute. He is Professor in the Department of Medicine at the University of Ottawa. Dr. Rudnicki is CEO and Scientific Director of the Canadian Stem Cell Network (SCN). Dr. Rudnicki’s achievements have been recognized by numerous honours including being named a Tier 1 Canada Research Chair, an International Research Scholar of the Howard Hughes Medical Institute for two consecutive terms, a Fellow of the Royal Society of Canada, an Officer of the Order of Canada, and a Fellow of the Royal Society (London). He has been a founder in several spin-off biotechnology companies including Satellos Bioscience.
Ends at 15:45
19:00
How best should clinical trials be conducted to allow for proper determination of the efficacy of new treatments for neuromuscular diseases?
Throughout medicine there are examples of treatments that have failed to deliver meaningful clinical benefit, causing debate around methodology and emphasising the need for more robust clinical trial design using appropriate and robust endpoints. This becomes particularly critical in consideration of the burden of clinical trials and the challenges of measuring efficacy for rare diseases.
In this debate Nicol Voermans and Jim Dowling will present the extremes of the biomarker vs outcome measures debate.
Join us for WMS’s debut in-person debate, moderated by Meredith James and Gina Ravenscroft, which we hope will be a lively event that ticks the triple E remit of the WMS - education, enjoyment and excitement!
Prof.Dr. Nicol Voermans
Radboud University Medical Centre
Nicol Voermans has been working in the field of neuromuscular disorders for over 15 years. Her current research focuses on clinical and genetic features of facioscapulohumeral muscular dystrophy, both in childhood and adulthood.
Dr. Jim Dowling
Hospital for Sick Children
Dr. Dowling is a clinician-scientist focused on gene discovery and therapy development for childhood muscle diseases. He is a staff clinician and senior scientist at the Hospital for Sick Children, a Professor of Paediatrics and Molecular Genetics at the University of Toronto, and the Mogford Campbell Family Chair of Paediatric Neuroscience.
Ends at 20:00
11:00
Dr Bernard Brais
Montreal Neurological Institute and Hospital
Neurogeneticist of neuromuscular disorders with an expertise in NMD more prevalent in the French-Canadian population. Director of the Rare Neurological Diseases Group of the Montreal Neurological Institute and Hospital.
Ends at 11:30
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