Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-70
SponsorVirginia Commonwealth University
About this trial
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
Qualifiers
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
Disqualifiers
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.
Trial design
Treatments tested in this trial
- Not listed
Trial groups
700 Participants
are grouped into 1 trial groupSponsors and collaborators
Virginia Commonwealth University
Lead sponsor
University of Rochester
Collaborator
Stanford University
Collaborator
Ohio State University
Collaborator
University of Florida
Collaborator
University of Iowa
Collaborator
Ludwig-Maximilians - University of Munich
Collaborator
Fondazione Serena Onlus - Centro Clinico NeMO Milano
Collaborator
The Methodist Hospital Research Institute
Collaborator
Radboud University Medical Center
Collaborator
University College London Hospitals
Collaborator
University of California, Los Angeles
Collaborator
Source ClinicalTrials.gov