Myotonia Congenita Clinical Trial
Official title:
Nondystrophic Myotonias: Genotype-phenotype Correlation and Longitudinal Study
Nondystrophic myotonias (NDM) are muscle disorders caused by genetic abnormalities in certain muscle cell membrane proteins. Individuals with NDM experience limited muscle relaxation, which causes pain, weakness, and impaired physical activity. The purpose of this study is to better characterize the clinical features and symptoms of NDM.
Nondystrophic myotonias are muscle disorders caused by abnormal muscle cell membrane
proteins that affect the control of muscle fiber contraction. These disorders are extremely
rare, and little is known about how to best treat the various subtypes of NDM. The purpose
of this study is to characterize the clinical features and symptoms of NDM as well as to
pair this data with specific NDM subtypes. In turn, this may lead to the development of
improved treatments. The study will also establish clinical endpoints for use in future
studies.
This multi-center observational study will involve both a cross-sectional data analysis and
a prospective longitudinal analysis. Participants will initially attend a one-day outpatient
study visit. Various baseline measurements will be collected, including demographics,
medical history, and quality of life measures. Blood samples will be taken to evaluate
laboratory values and genetic factors. Participants will undergo manual muscle testing
(MMT), clinical myotonia assessments, and functional movement assessments. Routine nerve
conduction studies and electromyography (EMG) will also be performed in order to test for
the presence of myotonia in specific muscles. Annual follow-up evaluations will occur 1 and
2 years following the first study visit.
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Observational Model: Cohort, Time Perspective: Prospective
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