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Myotonic Dystrophy Type 1 Aerobic Exercise Study (DM1ex)

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: NCT04187482
Recruitment Status : Active, not recruiting
First Posted : December 5, 2019
Last Update Posted : May 27, 2020
Information provided by (Responsible Party):
Mark Tarnopolsky, McMaster University

Brief Summary:
Myotonic dystrophy type 1 (DM1) is a genetic disease that primarily targets skeletal muscle resulting in severe weakness and muscle loss. As a result, individuals suffering from DM1 become very inactive and lose mobility resulting in a lower quality of life. This study will investigate the effect of a 12-week moderate intensity exercise protocol on skeletal muscle function and cellular benefits in DM1 patients.

Condition or disease Intervention/treatment Phase
Myotonic Dystrophy 1 Muscular Dystrophies Other: Exercise training Not Applicable

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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 13 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Intervention Model Description: Participants are undergoing 12-weeks of aerobic exercise training
Masking: None (Open Label)
Primary Purpose: Supportive Care
Official Title: Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients
Actual Study Start Date : December 6, 2019
Estimated Primary Completion Date : July 29, 2020
Estimated Study Completion Date : August 1, 2020

Arm Intervention/treatment
Experimental: Exercise training group
All participants will be receiving same exercise training intervention
Other: Exercise training
All participants with DM1 will undergo a 12-week aerobic exercise training intervention on a cycle ergometer

Primary Outcome Measures :
  1. Maximal aerobic capacity [ Time Frame: 3 months from enrolment ]
    VO2max in mL/min/kg-1

Secondary Outcome Measures :
  1. 6 minute walk test [ Time Frame: 3 months from enrolment ]
    changes in number of meters walked during the 6 minute walk test

  2. 5x sit to stand [ Time Frame: 3 months from enrolment ]
    changes in the time (seconds) needed to complete 5x sit to stand from a chair

  3. timed up and go [ Time Frame: 3 months from enrolment ]
    changes in the time (seconds) needed to complete a timed up and go test

  4. Leg muscle strength [ Time Frame: 3 months from enrolment ]
    maximal isometric knee extension via Biodex in N*m

  5. Grip strength [ Time Frame: 3 months from enrolment ]
    changes in grip strength (kg) using a hand dynamometer

  6. Body composition [ Time Frame: 3 months from enrolment ]
    change in fat free mass and fat mass measured via DXA in kg

  7. Muscle fibre cross sectional area [ Time Frame: 3 months after intervention is complete ]
    changes in fibre cross sectional area from muscle biopsy of vastus lateralis using immunoflourescence

  8. Mitochondrial protein content [ Time Frame: 3 months after intervention is complete ]
    changes in mitochondrial proteins from muscle biopsy of vastus lateralis using western blotting

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 60 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

DM1 participants:

  • Male or female clinically diagnosed with DM1
  • CTG repeats 100-1000
  • Normal weight (BMI 18.5 - 24.9 kg/m2) or overweight (BMI 25 - 29.9 kg/m2)

Age matched controls:

  • Healthy men and women
  • Normal weight (BMI 18.5 - 24.9 kg/m2) or overweight (BMI 25 - 29.9 kg/m2)
  • Physically inactive (< 1-2 hour of formal exercise/week)

Exclusion Criteria:

  • Smoking
  • Obese (BMI > 30.0 kg/m2)
  • Use of narcotic analgesic or anti-inflammatory drugs
  • Type 1 or 2 diabetes (more than one anti-diabetic drug)
  • Cardiovascular disease (recent myocardial infarction (< 6 months))
  • Uncontrolled hypertension requiring more than 2 medications
  • Congestive heart failure requiring more than one medication for control-
  • Known liver disease
  • Cognitive impairments limiting ability to provide informed consent
  • Active musculoskeletal injuries and/or severe osteoarthritis

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): NCT04187482

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Canada, Ontario
McMaster University Medical Center
Hamilton, Ontario, Canada, L8N 3Z5
Sponsors and Collaborators
McMaster University
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Responsible Party: Mark Tarnopolsky, Principal Investigator, Professor, Director of Neuromuscular and Neurometabolic Clinic, McMaster University Identifier: NCT04187482    
Other Study ID Numbers: 7091
First Posted: December 5, 2019    Key Record Dates
Last Update Posted: May 27, 2020
Last Verified: May 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Mark Tarnopolsky, McMaster University:
aerobic exercise
Additional relevant MeSH terms:
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Muscular Dystrophies
Myotonic Dystrophy
Myotonic Disorders
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases