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
This trial does not accept healthy volunteersQualifiers
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 population
DM1 has a prevalence rate of approximately 1 per 2,300. There are no expected gender differences. Both men and women will be selected for this study. Children with DM1 are not included in this project because the pathophysiological basis of congenital and childhood DM1 appears to be mechanistically distinct.
Trial design
Design model
Other
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
700 Participants
are grouped into 1 trial groupGroup A: Study Visits
Trial outcomes
Primary outcomes
1
Change in ambulation over 24 months as measured by the 10 meter walk (m/s).
10 meter walk will be measured (m/s)
Time frame
12 and 24 months2
Change in respiratory function over 24 months as measured by spirometry, specifically the supine forced vital capacity (FVC).
Supine forced vital capacity (% predicted)
Time frame
12 and 24 months3
Percent splicing of DM1-affected splice events
RNA sequenced of muscle biopsy samples collected at two different times will be combined and used to calculate a percent splicing index (PMI)
Time frame
3 monthsOther outcomes
1
Longitudinal Muscle Biopsy Sub-study: Characterization of RNA splicing measures over a prolonged period of time (>24 months)
RNA sequenced of muscle biopsy samples collected at two different times will be combined and used to calculate a percent splicing index (PMI)
Time frame
24 months2
Longitudinal Muscle Biopsy Sub-study: Characterization of functional endpoints over a prolonged period of time (>24 months)
10-meter walk/run, grip strength, ADF (ankle dorsiflexion) strength, supine FVC (forced vital capacity)
Time frame
24 months3
COVID-19 Sub-study: Data from DM1 patients or caregivers about COVID-19 illness and vaccination experience, severity of illness and response to vaccination in DM1 patients compared to corresponding data available about the general population.
To evaluate the severity and rate of COVID-19 infection in patients with DM1 compared to the general population symptomatic response to COVID-19 vaccination in DM1 patients
Time frame
24 months4
COVID-19 Sub-study: Immunoglobulin profile and measles titers, and COVID-19 IgG titers
To understand immunoglobulin response to infection and vaccination in DM1 patients
Time frame
24 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
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