Myotonic Dystrophy 1DM1exNCT04187482
Myotonic Dystrophy Type 1 Aerobic Exercise Study
A study testing Exercise training in people with Myotonic Dystrophy 1 and Muscular Dystrophies, run by McMaster University at 1 site in Canada.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Myotonic Dystrophy 1, Muscular Dystrophies
- What is being tested?
- Exercise training
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 13 participants
- Where
- 1 siteCanada
- Study dates
- 6 Dec 2019to 1 Nov 2021
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 60 years
- All sexes
- Healthy volunteers accepted
- Adult
Who may be able to join
- 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)
Who cannot join
- 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
Show all 10Show fewer
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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.
- Conditions
- Myotonic Dystrophy 1, Muscular Dystrophies
- Being tested
- Exercise training
- Keywords
- aerobic exercise
- Medical subject headings
- Myotonic Dystrophy, Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Exercise trainingOther
All participants with DM1 will undergo a 12-week aerobic exercise training intervention on a cycle ergometer
| Study group | Role | What they receive |
|---|---|---|
| Exercise training group | Experimental | All participants will be receiving same exercise training intervention Receives: Other: Exercise training |
What is being measured
The primary outcome is the main question the study is designed to answer.
Maximal aerobic capacity
VO2max in mL/min/kg-1
Measured: 3 months from enrolment
Secondary outcomes (8)
6 minute walk test
changes in number of meters walked during the 6 minute walk test
Measured: 3 months from enrolment
5x sit to stand
changes in the time (seconds) needed to complete 5x sit to stand from a chair
Measured: 3 months from enrolment
timed up and go
changes in the time (seconds) needed to complete a timed up and go test
Measured: 3 months from enrolment
Leg muscle strength
maximal isometric knee extension via Biodex in N*m
Measured: 3 months from enrolment
Grip strength
changes in grip strength (kg) using a hand dynamometer
Measured: 3 months from enrolment
Body composition
change in fat free mass and fat mass measured via DXA in kg
Measured: 3 months from enrolment
Muscle fibre cross sectional area
changes in fibre cross sectional area from muscle biopsy of vastus lateralis using immunoflourescence
Measured: 3 months after intervention is complete
Mitochondrial protein content
changes in mitochondrial proteins from muscle biopsy of vastus lateralis using western blotting
Measured: 3 months after intervention is complete
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Dec 2019
- Study start6 Dec 2019
- Primary completion29 Mar 2020
- Study completion1 Nov 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Myotonic Dystrophy 1Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Participants are undergoing 12-weeks of aerobic exercise training
- Masking
- None (open label)
- Enrolment
- 13 participants (actual)
Sponsor and investigators
- Lead sponsor
- McMaster University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Mark Tarnopolsky, McMaster University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04187482
- Sponsor's protocol ID
- 7091
- Acronym
- DM1ex
- Status last verified
- Mar 2022
- First submitted
- 3 Dec 2019
- Last updated
- 14 Mar 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Mikhail AI, Nagy PL, Manta K, Rouse N, Manta A, Ng SY, Nagy MF, Smith P, Lu JQ, Nederveen JP, Ljubicic V, Tarnopolsky MA. Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes. J Clin Invest. 2022 May 16;132(10):e156125. doi: 10.1172/JCI156125.
PubMed 35316212
Study at a glance
From the registry record, last updated by the sponsor on 14 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients
- ClinicalTrials.gov ID
- NCT04187482
- Acronym / sponsor ID
- DM1ex / 7091
- Conditions
- Myotonic Dystrophy 1, Muscular Dystrophies
- Keywords
- aerobic exercise
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 13 participants (actual)
- Lead sponsor
- McMaster UniversityUniversity, hospital or other
- Study start
- 6 Dec 2019 (actual)
- Primary completion
- 29 Mar 2020 (actual)
- Study completion
- 1 Nov 2021 (actual)
- First posted
- 5 Dec 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Primary purpose
- Supportive care
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Participants are undergoing 12-weeks of aerobic exercise training
| Arm | Type | Receives |
|---|---|---|
| Exercise training group | Experimental | Other: Exercise trainingAll participants will be receiving same exercise training intervention |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
Key inclusion criteria (8 listed)
- 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)
- Healthy men and women
- Normal weight (BMI 18.5 - 24.9 kg/m2) or overweight (BMI 25 - 29.9 kg/m2)
Key exclusion criteria (10 listed)
- 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))
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Exercise trainingAll participants with DM1 will undergo a 12-week aerobic exercise training intervention on a cycle ergometer | Other | Exercise training group |
Primary outcome
Maximal aerobic capacity
Time frame: 3 months from enrolment
VO2max in mL/min/kg-1
8 secondary outcomes
6 minute walk test
Time frame: 3 months from enrolment
5x sit to stand
Time frame: 3 months from enrolment
timed up and go
Time frame: 3 months from enrolment
Leg muscle strength
Time frame: 3 months from enrolment
Grip strength
Time frame: 3 months from enrolment
Body composition
Time frame: 3 months from enrolment
Muscle fibre cross sectional area
Time frame: 3 months after intervention is complete
Mitochondrial protein content
Time frame: 3 months after intervention is complete
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Mar 2022.
- Derived from this study: PubMed 35316212Mikhail AI, Nagy PL, Manta K, Rouse N, Manta A, Ng SY, Nagy MF, Smith P, Lu JQ, Nederveen JP, Ljubicic V, Tarnopolsky MA. Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes. J Clin Invest. 2022 May 16;132(10):e156125. doi: 10.1172/JCI156125.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Exercise training in people with Myotonic Dystrophy 1 and Muscular Dystrophies, run by McMaster University at 1 site in Canada.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 10 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 14 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Maximal aerobic capacity (time frame: 3 months from enrolment). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04187482, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Mar 2022.