While Myasthenia Gravis is indeed a rare autoimmune disease, MuSK serotype of myasthenia is even more rare compared to others. With not many clinical studies out there focused on MuSK myasthenia, very few specialized treatments exist for it. Understanding the mechanism behind different serotypes will help physicians and scientists determine which further treatments may be most beneficial for patients. For instance, MuSK positive patients usually respond well to a medication called rituximab, but not pyridostigmine as it is much more effective for patients who have AChR+serotype. The importance of knowing one’s antibody type directly impacts their clinical care.
George Washington University in conjunction with MGNet, a research consortium focused on myasthenia gravis research, is conducting a study targeted at MuSK positive patients. The MuSK Myasthenia 1000 study aims to collect saliva samples from 1000 patients with laboratory documented muscle specific antibody positive myasthenia gravis. These samples will then be used in a genome-wide association study (GWAS) which will identify genetic risk factors for MuSK myasthenia. With this understanding, we hope to develop better treatments for MuSK MG. GWAS has been used in other forms of MG to understand the disease, but never in MuSK MG. The study is organized by the Myasthenia Gravis Rare Disease Clinical Research Network, MGNet by its lead investigator Henry Kaminski, M.D., at George Washington University.
For more information, please visit https://musk1000.smhs.gwu.edu. If you are interested in participating in this important study or have any questions, please email us at: musk1000@mfa.gwu.edu
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