Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Status: Recruiting
Location: See all (16) locations...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Maximum Age: 70
Healthy Volunteers: No
View:

• 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

• • Of the 95 patients undergoing the tibialis anterior muscle biopsy, at least half will have at least moderate weakness of ankle dorsiflexion, defined as MRC score ≤ 4+. This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy. Approximately 10 patients at each site will undergo the muscle biopsy.

Locations
United States
California
Stanford University
Recruiting
Stanford
Colorado
University of Colorado - Denver
Recruiting
Denver
Florida
University of Florida
Recruiting
Gainesville
Iowa
University of Iowa
Recruiting
Iowa City
Kansas
Kansas University Medical Center
Recruiting
Kansas City
Maryland
National Institute of Health NINDS
Enrolling by invitation
Bethesda
New York
University of Rochester
Recruiting
Rochester
Ohio
Ohio State University
Recruiting
Columbus
Texas
Houston Methodist Hospital
Recruiting
Houston
Virginia
Virginia Commonwealth University
Recruiting
Richmond
Other Locations
France
Neuromuscular Reference Center Institute of Myology
Recruiting
Paris
Germany
Klinikum der Universität München
Recruiting
München
Italy
NEMO
Recruiting
Milan
Netherlands
Radboud University Medical Center
Recruiting
Nijmegen
New Zealand
University of Auckland
Not yet recruiting
Auckland
United Kingdom
University College London
Not yet recruiting
London
Contact Information
Primary
Nicholas Johnson, MD
nicholas.johnson@vcuhealth.org
804-552-0014
Backup
Jessica St Romain
jessica.stromain@vcuhealth.org
Time Frame
Start Date: January 1, 2019
Estimated Completion Date: April 15, 2025
Participants
Target number of participants: 700
Treatments
Study Visits
Patients will receive standard of care as determined by their treating physician. Study visits occur at baseline/0 months, 12 months, and 24 months
Sponsors
Collaborators: National Institutes of Health (NIH), The Methodist Hospital Research Institute, Insitut de Myologie Paris, University of California, Los Angeles, University College, London, University of Florida, University of Kansas, NEMO Clinic, Milan, Ohio State University, University of Rochester, University of Iowa, Stanford University, Radboud University Medical Center, Ludwig-Maximillians University, Munich
Leads: Virginia Commonwealth University

This content was sourced from clinicaltrials.gov

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