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Home-based Training and Supplementation in DM1 Patients

Phase 3
Not yet recruiting
Conditions
Myotonic Dystrophy 1
Interventions
Dietary Supplement: Placebo
Dietary Supplement: Mult-ingredient supplement
Behavioral: Concurrent exercise training
Registration Number
NCT05848830
Lead Sponsor
McMaster University
Brief Summary

Myotonic dystrophy type 1 (DM1) is a rare genetic disease that affects about 1 in 2100 people. Patients diagnosed with DM1 present with many symptoms, however, their muscles are mainly affected. DM1 patients experience a gradual loss of muscle, followed by an increase in body fat percentage, which makes them weaker, resulting in difficulties to perform activities of daily living, such as climbing stairs, and understandably, this affects their quality of life. DM1 currently does not have a cure. Therefore, it is very important to find ways in which we can help DM1 patients to improve their symptoms, and hopefully, improve their quality of life, and possibly improve disease prognosis. Exercise is known to improve muscle quality and function. In addition, we hypothesize that a multi-ingredient supplement (MIS) for muscle health and antioxidants for fat loss, might show improved benefits on top of exercise. Therefore, we will investigate the effects of 16-week home-based concurrent training, with MIS or placebo, on body composition, and functional measures. Lastly, we will investigate muscle adaptations in DM1 and following study intervention

Detailed Description

The present study will target patients (male and female) that have been clinically diagnosed with myotonic dystrophy type 1 with 100-1000 CTG repeats, between the ages of 19 - 60. In addition, a healthy population will serve as baseline controls, and they will be matched for age and sex, to the DM1 patients.

A total of 40 DM1 patients and 20 healthy controls will be recruited. DM1 patients will be randomized to 20 in the active group and 20 in the placebo. Both males and females will be recruited, targeting 20 males and 20 females. Corresponding 10 healthy males and 10 healthy females will be matched for sex and age, and only participate in baseline visits, measures, and sample collection.

Home-based concurrent training (HBCT) represents an exercise intervention with minimal barriers to entry. Our study will assess the effectiveness of this intervention, in combination with a multi-ingredient supplement (MIS) containing protein, creatine, antioxidants, and other dietary supplements in patients with DM1, in improving functional, clinical, and strength measures, as well as the quality of life, as assessed by scores in questionnaires. In addition, we will investigate adaptations to skeletal muscle following HBCT and MIS.

A randomized clinical trial of DM1 patients. Our study will include exercise as the over-arching intervention, with two groups nested within, DM1 patients randomized to MIS and placebo, both of which will undergo 16 weeks of home-based exercise training. Measurements and samples will be collected before and after the study intervention. A third group will include age and sex-matched healthy controls. This group will not undergo training + supplement intervention and will be used for baseline comparisons between healthy participants and DM1 patients.

Study procedures will include blood draws and muscle biopsies in each visit. In addition, participants will be asked to undergo a cardiorespiratory fitness test (VO2MAX test), a battery of functional tests (6-minute walk test, 5x sit-to-stand, one leg standing, 4-stair climb), strength testing (grip strength and knee extension tests) and lastly, clinical procedures, including ECGs and spirometry. Measurements and sample collection will be done before and after the study intervention.

Recruitment & Eligibility

Status
NOT_YET_RECRUITING
Sex
All
Target Recruitment
60
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
INTERVENTIONAL
Study Design
FACTORIAL
Arm && Interventions
GroupInterventionDescription
DM1 + HBEXT + PLAPlaceboParticipants will be asked to undergo 16 weeks of home-based training and asked to take one dose of a multi-ingredient supplement placebo per day.
DM1 + HBEXT + MISMult-ingredient supplementParticipants will be asked to undergo 16 weeks of home-based training and asked to take one dose of a multi-ingredient supplement per day.
DM1 + HBEXT + MISConcurrent exercise trainingParticipants will be asked to undergo 16 weeks of home-based training and asked to take one dose of a multi-ingredient supplement per day.
DM1 + HBEXT + PLAConcurrent exercise trainingParticipants will be asked to undergo 16 weeks of home-based training and asked to take one dose of a multi-ingredient supplement placebo per day.
Primary Outcome Measures
NameTimeMethod
VO2 Max4 months from enrolment

Changes in cardiorespiratory fitness proxy measure as assessed via VO2 max testing

Body Composition Index4 months from enrolment

Changes in ratio of fat-free mass to fat mass index as assessed via DEXA scan

Secondary Outcome Measures
NameTimeMethod
Grip strength4 months from enrolment

Changes in grip strength (kg) using a hand dynamometer

6-minute walk test4 months from enrolment

Changes in number of meters walked during the 6 minute walk test

Timed up and go4 months from enrolment

Changes in the time (seconds) needed to complete a timed up and go test

5x sit to stand4 months from enrolment

Changes in time (s) that is needed to complete 5x sit to stand from a chair

Leg muscle strength4 months from enrolment

Changes in maximal isometric knee extension via Biodex in N\*m

Muscle fibre cross sectional area4 months from enrolment

Changes in fibre cross sectional area from a muscle biopsy of vastus lateralis using immunoflourescence

Single leg stance test4 months from enrolment

Changes in whether patients can stand on one leg for 10 s or not

Muscle stem cell mitochondrial function4 months from enrolment

Changes in mitochondrial function in isolated muscle stem cells of DM1 patients via seahorse assay

Trial Locations

Locations (1)

McMaster University Medical Center

🇨🇦

Hamilton, Ontario, Canada

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