Myotonic Dystrophy Type 1 Aerobic Exercise Study (DM1ex)

March 11, 2022 updated by: Mark Tarnopolsky, McMaster University

Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Detailed Description

The present study is a repeated measures design, with sampling of the cohorts on two separate occasions. Upon obtaining informed consent, participants will be assigned into one of two groups:

Group 1: DM1 Exercise Group DM1 diagnosed, physically inactive males, n = 6 DM1 diagnosed, physically inactive females, n = 7

Group 2: Healthy controls (no exercise) Healthy, physically inactive males n = 6 Healthy, physically inactive females n = 7

Introduction - Day 1 (Visit 1); On the initial visit, the potential participant will come to McMaster Children's Hospital to meet with a study coordinator involved in the project. The coordinator will explain the study in detail, answer any questions, and review the consent form. Upon obtaining informed consent, eligible participants will complete a medical screening questionnaire to determine their readiness to perform exercise. Participant characteristics will then be measured. At this time, anthropometric measurements (i.e., height, weight, waist circumference) and a dual energy x-ray absorptiometry (DXA) measurement will be performed. This must be done in order to verify that the participant meets the inclusion criteria of being normal weight (BMI 18.5 - 24.9 kg/m2) or overweight (BMI 25 - 29.9 kg/m2). Following this screening, participants will undergo an ECG to measure any conductance blockage and perform a maximal cycling test to determine their aerobic capacity (V02max). Maximal aerobic testing will then be followed by another 12 lead ECG to detect any possible structural cardiac issues in our participants. Thereafter, participants will begin the following the study timeline, all of which will occur at the McMaster Children's Hospital, 2H Neurometabolic Clinic.

Baseline testing - Day 3 (Visit 2); Participants will arrive the following day to undergo functional testing which will include 6-minute walk test, 5x sit to stand, timed up and go, grip strength and maximal voluntary knee extension using the Biodex dynamometer. Participants will then complete the SF-36.

Follow up testing - Day 5 (Visit 3); Participants will arrive following an overnight fast (including no caffeine for 12 hours) and having abstained from any exercise for the prior 24 hours. Participants will undergo a muscle biopsy from the vastus lateralis.

DM1 participants only:

Exercise training - Visit 4 - 39; Participants will begin the exercise protocol consisting of 3 exercise sessions per week for a 12-week period. All exercise sessions will be done on a cycle ergometer (Lode, Groningen, Netherlands). Each exercise session will consist of 3 minutes of warm up, 30 minutes at 65% V02max and will end with 2 minutes of cool down. Exercise progression over the 12 weeks will go as follows:

  • Weeks 1 and 2: 3 min warm up, 65% VO2max for 30 min, 2 min cool down
  • Weeks 3 and 4: increase to 35 min (+ warm up/cool down)
  • Weeks 5 and 6: drop to 30 min and increase to 70% VO2max
  • Weeks 7 and 8: increase to 35 min (+ warm up/cool down)
  • Weeks 9 and 10: drop to 30 min and increase to 75%VO2 max
  • Weeks 11 and 12: increase to 35 min (+ warm up/cool down)

Endpoint testing - Visit 40; At this time, anthropometric re-measurements (i.e., height, weight, waist circumference) and a dual energy x-ray absorptiometry (DXA) measurement will be performed. Thereafter, participants will undergo an ECG to measure any conductance blockage and perform a maximal cycling test to determine their aerobic capacity (V02peak). Maximal aerobic testing will then be followed by another 12 lead ECG to detect any possible structural cardiac issues in our participants.

Endpoint testing - Visit 41; Participants will arrive the following day to undergo functional testing which will include 6-minute walk test, timed up and go, grip strength and maximal voluntary knee extension using the Biodex dynamometer. Participants will then complete the SF-36.

Endpoint testing - Visit 42; Participants will arrive following an overnight fast (including no caffeine for 12 hours) and having abstained from any exercise for the prior 24 hours. Participants will undergo a muscle biopsy from the vastus lateralis.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
13

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • Ontario
      • Hamilton, Ontario, Canada, L8N 3Z5
        • McMaster University Medical Center

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.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

18 years to 60 years (Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Supportive Care
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
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

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Maximal aerobic capacity
Time Frame: 3 months from enrolment
VO2max in mL/min/kg-1
3 months from enrolment

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
6 minute walk test
Time Frame: 3 months from enrolment
changes in number of meters walked during the 6 minute walk test
3 months from enrolment
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 months from enrolment
timed up and go
Time Frame: 3 months from enrolment
changes in the time (seconds) needed to complete a timed up and go test
3 months from enrolment
Leg muscle strength
Time Frame: 3 months from enrolment
maximal isometric knee extension via Biodex in N*m
3 months from enrolment
Grip strength
Time Frame: 3 months from enrolment
changes in grip strength (kg) using a hand dynamometer
3 months from enrolment
Body composition
Time Frame: 3 months from enrolment
change in fat free mass and fat mass measured via DXA in kg
3 months from enrolment
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
3 months after intervention is complete
Mitochondrial protein content
Time Frame: 3 months after intervention is complete
changes in mitochondrial proteins from muscle biopsy of vastus lateralis using western blotting
3 months after intervention is complete

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
McMaster University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
December 6, 2019

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
March 29, 2020

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
November 1, 2021

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
December 3, 2019

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 3, 2019

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
December 5, 2019

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
March 14, 2022

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 11, 2022

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
March 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 7091

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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