Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Virginia Commonwealth University
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
Description
Approximately 700 adult participants (18 to 70 years old, inclusive) with DM1 will be enrolled at 15 centers (up to 70 patients will be recruited at each site). No treatment will be administered as part of this study. Participants will receive standard of care as determined by the investigators. Study visits occur at baseline/0 months, 12 months, and 24 months. Few restrictions are placed on participation in the study because the investigators aim to capture the full spectrum of disease severity. Muscle biopsy sub-study: Studies of splicing biomarkers in muscle biopsy samples will be conducte…
Eligibility
- Age range
- 18–70 years
- Sex
- All
- Healthy volunteers
- No
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…
Locations (17)
- University of California, San DiegoLa Jolla, California
- University of California, Los AngelesLos Angeles, California
- University of Colorado - DenverDenver, Colorado
- University of FloridaGainesville, Florida
- University of IowaIowa City, Iowa
- Kansas University Medical CenterKansas City, Kansas