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

Recruiting now

Conditions studied: Myotonic Dystrophy 1, DM1

In brief

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

Key facts

Study ID

NCT03981575

Run by

Virginia Commonwealth University

People needed

700

Starts

2019-01-01

Expected to finish

2026-12-01

Last updated by the study team

2026-06-10

Who can join

Age: 18 and older, up to 70. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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

You may not qualify if…

• 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, but are limited to <15% of enrollment.
• Inclusion criteria for participants in the muscle biopsy sub-study:
• 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.
• Exclusion criteria for 95 participants in the muscle biopsy sub-study:
• Known CTG repeat expansion size less than 100 repeats, unless there are clear cut signs of limb weakness and muscle wasting. This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy.
• Use of anticoagulant such as warfarin or a direct oral anticoagulant (e.g. dabigatran) due to the increased risk of bleeding.
• Use of aspirin or non-steroidal anti-inflammatory agents should be discontinued 3 days prior to the biopsy procedure, if possible.
• Platelet count <50,000 (if known) due to the increased risk of bleeding.
• History of a bleeding disorder due to the increased risk of bleeding.
• Advanced wasting of tibialis anterior (TA) muscle that precludes needle muscle biopsy in order to ensure that a sample taken would be of muscle and not just fat and fascia.
• Previous muscle biopsy of either TA in order to provide muscle tissue samples of non-biopsied muscles.

Where it is running

• University College London — London, United Kingdom (enrolling)
• University of California, Los Angeles — Los Angeles, California, United States (enrolling)
• University of Colorado - Denver — Denver, Colorado, United States (enrolling)
• University of Florida — Gainesville, Florida, United States (enrolling)
• University of Iowa — Iowa City, Iowa, United States (enrolling)
• Kansas University Medical Center — Kansas City, Kansas, United States (enrolling)
• University of Rochester — Rochester, New York, United States (enrolling)
• Ohio State University — Columbus, Ohio, United States (enrolling)
• Houston Methodist Neurological Institute — Houston, Texas, United States (enrolling)
• Virginia Commonwealth University — Richmond, Virginia, United States (enrolling)
• St. George's, University of London — London, United Kingdom (enrolling)
• University of California, San Diego — La Jolla, California, United States (enrolling)
• Friedrich Baur Institute, Ludwig-Maximilians-Universität München — München, Germany (enrolling)
• Radboud University Medical Center — Nijmegen, Netherlands (enrolling)
• University of Auckland — Auckland, New Zealand (enrolling)
• Université de Sherbrooke — Québec, Canada
• Centro Clinico NeMO — Milan, Italy

Full record on ClinicalTrials.gov

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