Date/Time: Sunday, October 13, 2019 - 3:30 PM – 5:30 PM
Level: Special Interest Group
Room: Landmark 5
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This session will cover the latest development in key areas of research, diagnostics and treatment in the field of neuromuscular diseases to highlight the latest developments.The field of neuromuscular medicine has witnessed a remarkable advance in knowledge, diagnostics and therapeutics, in both genetic and autoimmune disorders, leading to individualized patient care. Gene therapy targeting not only specific genes, but even specific mutations (e.g. Duchenne muscular dystrophy), has become a reality. This has resulted in the survival of patients affected by disabling disorders who in the past would have died in infancy. Such novel treatments have improved quality of life of many patients with hereditary neuromuscular diseases. In the arena of immune-mediated neuromuscular disorders, immunotherapy targeting the disease mechanism underlying a specific autoimmune neuromuscular disease has allowed to optimize the treatment of pharmacologically-resistant patients. For example, drugs designed to inhibit complement are now available to treat myasthenia gravis, a disease in which complement plays a crucial role in the pathogenesis of the weakness and fatigability. Now, much more than before, the full characterization of a specific neuromuscular disease is necessary to offer up-to-date treatment.
Highlight recently developed monoclonal antibody (mAb) therapies for autoimmune myasthenia gravis (MG) and review clinical trial findings supporting therapeutic use of mAb in MG
Discuss mechanisms of therapeutic mAb activity in MG including B-cell depletion, complement inhibition, and neonatal Fc receptor blocking
Describe the spectrum of amyloid myopathies, from acquired to hereditary
Distinguish amyloid myopathies from myopathies with sarcoplasmic amyloid deposition.
To discuss recent advances in CMT genetics including identification of modifier genes
To review therapeutics development efforts for CMT.