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

Description

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

Conditions

Myotonic Dystrophy 1, DM1

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Study Overview

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Study Details

Study overview

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

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

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

Condition
Myotonic Dystrophy 1
Intervention / Treatment

-

Contacts and Locations

La Jolla

University of California, San Diego, La Jolla, California, United States, 92703

Los Angeles

University of California, Los Angeles, Los Angeles, California, United States, 90095

Stanford

Stanford University, Stanford, California, United States, 94305

Denver

University of Colorado - Denver, Denver, Colorado, United States, 80204

Gainesville

University of Florida, Gainesville, Florida, United States, 32611

Iowa City

University of Iowa, Iowa City, Iowa, United States, 52242

Kansas City

Kansas University Medical Center, Kansas City, Kansas, United States, 66160

Rochester

University of Rochester, Rochester, New York, United States, 14642

Columbus

Ohio State University, Columbus, Ohio, United States, 43210

Houston

Houston Methodist Neurological Institute, Houston, Texas, United States, 77030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * 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.
  • * 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.

Ages Eligible for Study

18 Years to 70 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Virginia Commonwealth University,

Nicholas Johnson, MD, PRINCIPAL_INVESTIGATOR, Virginia Commonwealth University

Charles Thornton, MD, PRINCIPAL_INVESTIGATOR, University of Rochester

Study Record Dates

2026-12-01