Genome Wide Association Study of Patients With Muscle Specific Kinase Myasthenia Gravis
George Washington University
Summary
The MuSK myasthenia gravis 1000 study seeks to collect saliva samples from 1000 subjects with laboratory confirmed diagnosis of MuSK myasthenia to identify genetic variations associated with MuSK MG. The data collected may be used by researchers to gain a better understanding of the cause of MuSK MG and to identify biomarkers and targeted therapy for MuSK MG.
Description
Myasthenia gravis is a rare, neuromuscular (disease of the muscle and nerves) autoimmune disease characterized by weakness of the muscles. MG has a prevalence of approximately 14-40 per 100,000 people in the United States. There is no cure for MG, however understanding the disease is crucial to pave the way for development of new therapies. Important to note, the most common subtype of MG associated with Acetylcholine receptor antibodies (AChR) are found in more than 80% of patients with generalized myasthenia gravis, whereas muscle-specific kinase (MuSK) antibodies are found in only 8% of MG…
Eligibility
- Age range
- 7–99 years
- Sex
- All
- Healthy volunteers
- Not specified
Inclusion Criteria: * Lab test confirming diagnosis of MuSK myasthenia gravis * Willingness to provide saliva sample via mail or in person Exclusion Criteria: * Inability to provide informed consent * Unwillingness to provide lab results of elevated muscle specific kinase antibody * Unwillingness to provide saliva sample
Location
- George Washington UniversityWashington D.C., District of Columbia