Exercise for Myotonic Dystrophy

(DM2 Trial)

Overseen By Zoe Sheitman, DPT

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: Massachusetts General Hospital

Disqualifiers: Pacemaker, Blood pressure, Heart rate, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: 3

Duration: 6 months

24 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to determine if a special exercise program, called PRIME: Proximal Resistance In-House Movement Exercise, can improve muscle function and composition in people with myotonic dystrophy type 2 (DM2). Participants will follow a guided exercise routine—either in person, virtually, or independently—for six months to test different supervision methods. The goal is to assess whether these exercises enhance mobility and muscle strength in individuals with DM2. Ideal participants are those diagnosed with DM2, who can walk unaided, and have a normal heart check-up. As an unphased trial, this study provides a unique opportunity to contribute to understanding how exercise can benefit those with DM2.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. It is best to discuss this with the trial coordinators or your doctor.

What prior data suggests that the PRIME exercise regimen is safe for patients with myotonic dystrophy type 2?

Research shows that strength training is generally safe for people with myotonic dystrophy. A review of studies found that high resistance training, such as the PRIME exercise program, is usually well-tolerated, meaning people can perform it without serious issues. Although specific data for the PRIME program is lacking, similar exercises have shown positive results. Participants typically do not report major problems, suggesting that the exercise routines in this trial are likely safe for people with myotonic dystrophy type 2. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the PRIME exercise protocol for myotonic dystrophy because it introduces a unique approach to physical therapy. Unlike traditional care, which often involves static exercise regimens, PRIME integrates a dynamic exercise model with both supervised and self-directed components. This trial explores the benefits of switching between in-person supervision, virtual guidance, and self-directed routines, which could offer more flexibility and accessibility for patients. The potential to tailor exercise plans to individual needs and lifestyles might lead to improved muscle strength and function, offering new hope for managing this condition more effectively.

What evidence suggests that the PRIME exercise regimen is effective for myotonic dystrophy?

Studies have shown that exercise can benefit people with muscle disorders like myotonic dystrophy by enhancing muscle function. Research indicates that strength training can increase muscle strength and improve overall fitness. For myotonic dystrophy type 2 (DM2), physical activity has been linked to better muscle health and improved ability to perform daily activities. In this trial, participants will engage in the PRIME exercise program, specifically designed for individuals with DM2, focusing on resistance exercises that can be done at home. Although specific data on PRIME for DM2 is limited, similar exercise programs have shown promising results in improving muscle health. Participants will be assigned to different groups, varying in supervision and self-directed exercise routines, to evaluate the effectiveness of the PRIME program. ^{1 3 4 6 7}

Are You a Good Fit for This Trial?

This trial is for individuals with Myotonic Dystrophy Type 2 (DM2). Participants should be willing to follow an exercise program and have their muscle strength, motor function, and muscle composition evaluated. The study excludes details on specific inclusion or exclusion criteria.

Inclusion Criteria

I am between 18 and 70 years old with confirmed myotonic dystrophy 2.

Patients have a normal ECG within the 3 months prior to Screening visit

Body mass index (BMI) between 20 and 30

Exclusion Criteria

Subjects with pacemaker

Any history of syncopal episodes or family history of sudden death

Any fall within the last six months

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants engage in a PT-guided exercise program with different modalities based on group assignment

6 months

Bi-weekly visits (in-person or virtual) for the first 3 months, self-directed for the last 3 months

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• PRIME: Proximal Resistance In-House Movement Exercise

Trial Overview The PRIME exercise regimen for DM2 patients is being tested. It's a two-sequence cross-over study where participants are randomly assigned to one of three groups: in-clinic supervised exercise, virtual supervised exercise, or independent home-based exercise before switching modes after 3 months.

How Is the Trial Designed?

Group I: Group B Active Control 1 Intervention

Exercise under the supervision of physical therapist virtually during the first 3 months, then self-directed exercise routine for the last 3 months

Group II: Group A Active Control 1 Intervention

Exercise under the supervision of physical therapist in clinic during the first 3 months, then self-directed exercise routine for the last 3 months

Group III: Group C Active Control 1 Intervention

Self-directed exercise routine for the first 3 months, then exercise routine under the supervision of physical therapist virtually during the last 3 months

Who Is Running the Clinical Trial?

Massachusetts General Hospital

Lead Sponsor

Trials

3,066

Recruited

13,430,000+

Published Research Related to This Trial

Resistance training (RT) is the only non-drug method proven to effectively counteract age-related declines in muscle mass, strength, and power, while also reducing risks of various health issues like cardiovascular disease and depression.

Minimal-dose RT strategies, which involve lower training volumes and can be performed with minimal equipment, are effective in improving strength and functional ability, making it easier for more people to participate and potentially enhancing overall health outcomes.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Minimal-Dose Resistance Training for Improving Muscle Mass, Strength, and Function: A Narrative Review of Current Evidence and Practical Considerations. Fyfe, JJ., Hamilton, DL., Daly, RM.[2022]

In a review of 121 trials involving 6700 older adults, most adverse events related to progressive resistance strength training were musculoskeletal issues like muscle strains and joint pain, particularly in participants with pre-existing health conditions or those engaging in high-intensity training.

Adverse events were often underreported, highlighting the need for clearer definitions and consistent reporting in future studies to better inform practitioners about the risks and benefits of strength training in older adults.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Adverse events reported in progressive resistance strength training trials in older adults: 2 sides of a coin. Liu, CJ., Latham, N.[2010]

Participants with chronic health conditions expressed that adverse events (AEs) from resistance training (RT) significantly impact their willingness to engage in future exercise, highlighting the importance of understanding both the risks and benefits of RT.

The study identified that personal experiences, health conditions, and the environment in which RT occurs influence perceptions of safety and participation, suggesting that better communication about the risks of AEs is essential to encourage RT among individuals with chronic health issues.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Exploring participants' perspectives on adverse events due to resistance training: a qualitative study. El-Kotob, R., Pagcanlungan, JR., Craven, BC., et al.[2023]

A 46-year-old woman with myotonic dystrophy type 1 (DM1) showed significant improvements in walking, balance, and muscle strength after undergoing a combined rehabilitation approach that included both conventional physiotherapy and robotic training with the Ekso-GT exoskeleton.

This case study suggests that integrating robotic technologies into rehabilitation for DM1 can enhance therapeutic outcomes by effectively engaging neural networks, potentially leading to better motor and functional recovery.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Overground exoskeletons may boost neuroplasticity in myotonic dystrophy type 1 rehabilitation: A case report. Portaro, S., Naro, A., Leo, A., et al.[2023]

In a study involving 10 patients with myotonic dystrophy type 2 (DM2), a 16-week supervised exercise training program significantly improved functional capacity, including handgrip strength and walking distance.

The exercise training also led to increases in lean body mass and bone mineral density, while reducing arterial pressure, suggesting that exercise can be beneficial for DM2 patients despite the lack of medical treatments.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Effect of exercise training on functional capacity and body composition in myotonic dystrophy type 2 patients. Kontou, E., Papadopoulos, C., Papadimas, G., et al.[2021]

In mouse models of myotonic dystrophy type 1 (DM1), targeted antisense oligonucleotide (ASO) therapies can correct molecular defects but do not fully alleviate exercise-induced fatigue, which worsens with age.

Combining ASO treatment with a moderate-intensity exercise regimen significantly reverses fatigue in older DM1 mice, suggesting that exercise is an important complement to molecular therapies for improving fatigue symptoms in DM1.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Antisense oligonucleotide and adjuvant exercise therapy reverse fatigue in old mice with myotonic dystrophy. Hu, N., Kim, E., Antoury, L., et al.[2021]

This review analyzed 21 studies on exercise and training programs for patients with myotonic dystrophy type 1 (DM1), highlighting various approaches like strength training and neuromuscular electric stimulation to improve muscle function.

Despite the number of studies, there is significant variability in training protocols and outcomes, indicating a need for more standardized research to determine effective exercise parameters and better understand the physiological responses in DM1 patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

What is known about the effects of exercise or training to reduce skeletal muscle impairments of patients with myotonic dystrophy type 1? A scoping review. Roussel, MP., Morin, M., Gagnon, C., et al.[2020]

In a study using a mouse model of myotonic dystrophy type 1 (DM1), 7 weeks of voluntary running exercise significantly improved motor performance, muscle strength, and endurance, while also reducing myotonia, indicating that exercise can be beneficial for DM1.

The exercise led to important cellular changes, including reduced RNA toxicity and improved mRNA processing, which are key mechanisms underlying the disease, suggesting that physical activity may help mitigate the effects of DM1 at a molecular level.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice. Manta, A., Stouth, DW., Xhuti, D., et al.[2020]

Researchers in resistance training studies often lack clear guidance and motivation for thorough adverse event (AE) reporting, which can lead to inconsistent practices.

There is a need for exercise-specific guidelines for AE reporting, as current standards are perceived as not applicable to exercise trials, highlighting the importance of tailored strategies to improve reporting consistency.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Researchers' perspectives on adverse event reporting in resistance training trials: a qualitative study. El-Kotob, R., Pagcanlungan, JR., Craven, BC., et al.[2022]

A 14-week exercise program, Friskis&Svettis® Open Doors, was feasible and well-tolerated by 35 adults with myotonic dystrophy type 1, with no reported negative effects.

While the program did not show significant improvements in physical functioning or health-related quality of life, it did lead to a slight increase in mental health scores for the training group compared to controls.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Feasibility and effects of a physical exercise programme in adults with myotonic dystrophy type 1: a randomized controlled pilot study. Kierkegaard, M., Harms-Ringdahl, K., Edström, L., et al.[2015]

A 12-week high-resistance training program significantly improved muscle strength in patients with myotonic dystrophy, with one-repetition maximum (1RM) increasing from 16.4 kg to 21.8 kg (p = 0.0002).

Despite the strength gains, there were no significant changes in muscle histopathology or cross-sectional area of muscle fibers, indicating that the training was safe and did not exacerbate underlying muscle abnormalities.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Effects of high resistance training in patients with myotonic dystrophy. Tollbäck, A., Eriksson, S., Wredenberg, A., et al.[2008]

Whole-Body Electromyostimulation (WB-EMS) has been shown to significantly improve muscle mass and function while reducing fat mass and low back pain, making it a beneficial option for older adults who may struggle with traditional exercise.

WB-EMS appears to be a safe training technology when properly applied and supervised, although its effects on cardio-metabolic risk factors need further investigation.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Efficacy and Safety of Low Frequency Whole-Body Electromyostimulation (WB-EMS) to Improve Health-Related Outcomes in Non-athletic Adults. A Systematic Review. Kemmler, W., Weissenfels, A., Willert, S., et al.[2022]

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT06716931

Investigating Exercise in Myotonic Dystrophy Type 2 (DM2) Study Overview. An exercise regimen (PRIME: Proximal Resistance In-House Movement Exercise) has been designed for patients with myotonic dystrophy type 2 (DM2).

2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC6402179/

What is known about the effects of exercise or training to ... Conclusion. This scoping review offers a complete summary of the current scientific literature on the effect of exercise and training in DM1 ...

3. myotonic.org myotonic.org/news/dm2?page=1

DM2 This innovative project tests the effectiveness of the PRIME (Proximal Resistance In-House Movement Exercises) program, a patient-friendly regimen designed to ...

4. sciencedirect.com sciencedirect.com/science/article/pii/S2215016124004084

Effect of exercise training on clinical and physiological ... This review aims to summarize and appraise the literature on the effects of aerobic and strength training on clinical and physiological variables in adults ...

5. nmd-journal.com nmd-journal.com/article/S0960-8966(24)00106-8/fulltext

Resistance training in women with myotonic dystrophy type 1 Fundamental and clinical positive effects of strength training have been reported in men with DM1, but its impact on women remains unknown. We evaluated the ...

6. centerwatch.com centerwatch.com/clinical-trials/listings/NCT06716931/investigating-exercise-in-myotonic-dystrophy-type-2-dm2

Investigating Exercise in Myotonic Dystrophy Type 2 (DM2) An exercise regimen (PRIME: Proximal Resistance In-House Movement Exercise) has been designed for patients with myotonic dystrophy type 2 (DM2).

7. myotonic.org myotonic.org/sites/default/files/pages/files/MDF_Exercise-Guide-for-the-Community_1_21.pdf

Exercise Guide for People Living with ... Muscle strength is required to actively move throughout the. ROM, but some people may have limitations at different parts of the full ROM, due to tight muscles ...