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Multicenter Observational Study of Myotonic Dystrophy Type 1 (MOS-DM1/POP)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02308657
Recruitment Status : Completed
First Posted : December 4, 2014
Last Update Posted : October 26, 2017
University of Florida
University of Kansas Medical Center
Ohio State University
Stanford University
National Institute of Neurological Disorders and Stroke (NINDS)
Muscular Dystrophy Association
Myotonic Dystrophy Foundation
The Marigold Foundation
Information provided by (Responsible Party):
Charles Thornton, University of Rochester

Brief Summary:
The purpose of the study is to determine the best ways to assess how people are affected by myotonic dystrophy type 1 (DM1). The study will assess walking speed, muscle strength, muscle size, myotonia, heart rhythm, mental efficiency, and overall health. Participants will complete questionnaires to record their ideas about how they are affected by DM1. The study will evaluate people with DM1 over 1 year to determine how the condition changes over time. The study will identify biomarkers of DM1. Biomarkers are laboratory measurements that show the effects of DM1 on a person's muscle tissue or blood. Biomarkers are needed in future studies to determine how DM1 may respond to treatments.

Condition or disease
Myotonic Dystrophy Type 1

Detailed Description:
Participants in the study will come to the study site for 3 study visits. Each visit will take most of the day. Each visit will include a series of evaluations to determine how the person is affected by myotonic dystrophy. The results from the initial study visit will be compared to the second study visit after 3 months and the third study visit after 1 year. A small needle biopsy of a leg muscle will be performed at the first and second study visits (but not at the third visit). After the second study visit, participants will be asked to make a phone call every day for 30 days to report their symptoms and muscle strength (grip strength).

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Study Type : Observational
Actual Enrollment : 120 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1
Study Start Date : November 2013
Actual Primary Completion Date : July 2017
Actual Study Completion Date : October 2017

Primary Outcome Measures :
  1. Needle Muscle Biopsy RNA Biomarkers [ Time Frame: Baseline, 3 months ]
    To evaluate the stability of RNA splice events as biomarkers of DM1.

Secondary Outcome Measures :
  1. Myotonia [ Time Frame: Baseline, 3 months, 1 year ]
    Muscle relaxation time of the hand grip and electromyography (EMG) of a leg muscle (tibialis anterior)

  2. Muscle Strength [ Time Frame: Baseline, 3 months, 1 year ]
    Computer-assisted and manual testing of muscle strength

  3. Myotonic Dystrophy Health Index (MDHI) [ Time Frame: Baseline, 3 months, 1 year ]
    Patient perceptions of their disease burden as measured by a questionnaire.

Other Outcome Measures:
  1. Timed functional tests [ Time Frame: Baseline, 3 months, 1 year ]
    Timed functional tests include walking speed, rising from a chair, and climbing steps

Biospecimen Retention:   Samples With DNA
Blood samples will be used for routine laboratory testing, such as tests of blood cells, chemistry, and ability to form blood clots. Blood samples will be used for genetic testing (DNA testing) and to identify biomarkers. Needle muscle biopsies will be obtained from the tibialis anterior, a muscle in the front of the leg, next to the shin.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Approximately 100 adult patients (18 to 70 years old, inclusive) with DM1 will be enrolled at 6 centers.

Inclusion Criteria:

  • Ability to understand the purpose and risks of the study and provide signed informed consent and authorization to use protected health information in accordance with national and local patient privacy regulations.
  • Men and women, 18 to 70 years old, inclusive; body mass index ≤33.
  • Onset of DM1 after age 10.
  • Clinical diagnosis of DM1 based on research criteria or prior genetic testing with confirmation of CTG repeat length ≥70. A genetic test confirming DM1 is not required for entry. A DNA sample will be obtained from all subjects for DM1 genetic testing. If this test does not show an expanded repeat in the DM1 gene the subject will be withdrawn from the study.
  • Ability to complete a 6 minute walk test (ankle-foot braces are allowed, but cane and walker are not allowed).

Exclusion Criteria:

  • Clinically significant infections or medical illness from 30 days prior to Visit 1.
  • History of, or abnormal laboratory values indicative of, significant medical, neurologic (other than DM1), or psychiatric disorders that might preclude participation in the study in the opinion of the Investigator.
  • A recent history of any of the following conditions on routine blood screening: white blood cells <3000, platelets <100,000, hematocrit <30%, symptomatic liver disease with serum albumin <3 g/L, or creatinine >1.5 mg%.
  • Any of the following medical conditions: uncontrolled or insulin dependent diabetes mellitus, congestive heart failure, symptomatic cardiomyopathy, symptomatic coronary artery disease, cancer (other than skin cancer) within the prior 5 years, multiple sclerosis, or other serious medical illness.
  • Myotonic dystrophy type 2 or other diseases that mimic the signs or symptoms of DM1. Coexistence of other neuromuscular disease.
  • Thyroid dysfunction that is untreated (if on thyroid hormone replacement therapy, need to have adequate and stable replacement over the previous 6 months).
  • Second or third degree heart block, atrial flutter, atrial fibrillation, ventricular tachycardia, or is receiving medication for the treatment of cardiac arrhythmia.
  • Liver or kidney disease requiring ongoing treatment.
  • Have a seizure disorder.
  • Drug or alcohol abuse within 3 months of Visit 1.
  • Women who are pregnant or who plan to become pregnant during the study's duration.
  • Treatment with supplemental anabolic hormones (including testosterone, human recombinant growth hormone, human recombinant insulin like growth factor-1, other anabolic drug mixtures) during the previous 12 months.
  • History of bleeding tendency or ongoing oral anticoagulation.
  • Hypersensitivity to local anesthetics or components thereof to be used in the biopsy procedure.
  • Participation in any investigational treatment study within 6 months prior to Visit 1.
  • Inability or unwillingness to undergo any of the study-specific procedures or assessments, including needle muscle biopsies.
  • Medical or other unspecified reasons that in the opinion of the Investigator makes the patient unsuitable for enrollment.
  • Treatment with any of the following anti-myotonia medications within 8 weeks prior to Visit 1: phenytoin, carbamazepine, procainamide, disopyramide, nifedipine, acetazolamide, clomipramine, imipramine, mexiletine
  • Treatment with corticosteroids within 8 weeks prior to Visit 1.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02308657

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United States, California
Stanford University
Stanford, California, United States, 94305
United States, Florida
University of Florida
Gainesville, Florida, United States, 100236
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
United States, Maryland
Bethesda, Maryland, United States, 20892
United States, New York
University of Rochester
Rochester, New York, United States, 14642
United States, Ohio
Ohio State University
Columbus, Ohio, United States, 43221
Sponsors and Collaborators
University of Rochester
University of Florida
University of Kansas Medical Center
Ohio State University
Stanford University
National Institute of Neurological Disorders and Stroke (NINDS)
Muscular Dystrophy Association
Myotonic Dystrophy Foundation
The Marigold Foundation
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Principal Investigator: Charles A Thornton, MD University of Rochester

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Responsible Party: Charles Thornton, Principal Investigator, University of Rochester Identifier: NCT02308657    
Obsolete Identifiers: NCT02176798
Other Study ID Numbers: RSRB48991
U54NS048843 ( U.S. NIH Grant/Contract )
First Posted: December 4, 2014    Key Record Dates
Last Update Posted: October 26, 2017
Last Verified: February 2017
Additional relevant MeSH terms:
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Myotonic Dystrophy
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn