Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Trial Parameters
Brief Summary
Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological understanding of the phenotypic heterogeneity of Myotonic Dystrophy 1 by examining strategies to improve the reliability by making further refinements in our sample collection and analysis procedures by developing strategies for managing patient heterogeneity going forward. Funding Source- FDA OOPD
Eligibility Criteria
Inclusion criteria: * Age 18 to 70 (inclusive) * Competent to provide informed consent * Clinical diagnosis of DM1 based on research criteria1 or positive genetic test * Comment: The clinical research criteria require myotonia, muscle weakness in a characteristic distribution, and history of similar findings in a first degree relative. Genetic testing confirmed the diagnosis of DM1 in \> 99% of individuals who satisfied these criteria.2 Exclusion criteria: * Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than skin cancer. * Current alcohol or substance abuse * Concurrent enrollment in clinical trial for DM1, or participation in trial within 6 months of entry. * Concurrent pregnancy or planned pregnancy during the course of the study. * Concurrent medical condition that would, in the opinion of the investigator or clinical evaluator, compromise performance on study measures. * Note: non-ambulatory participants are not excluded,