Non Dystrophic Myotonias: Genotype-Phenotype Correlation and Longitudinal

Study ID Alternative Stable ID Type
phs000578 Longitudinal

Study Description

NMD are rare ion channel disorders. The optimal management and treatment of these disorders are not known. This multi-center proposal will allow the prospective collection of standardized data from a critical number of patients to help better define the clinical features of NDM. The data will also be used to establish clinically relevant endpoints for use in therapeutic trials. The identification and genetic characterization of patients will facilitate recruitment of participants for future therapeutic trials. Ultimately, the information gained will lead to the improvements in the treatment and management of NMD with an associated reduction in morbidity and improvement in patient quality of life.

Archive Link Archive Accession
dbGaP phs000578

Who archives the data?

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