Pelvic Floor Muscle Training for Myotonic Dystrophy

Age: 18+

Sex: Female

Trial Phase: Academic

Sponsor: Université de Sherbrooke

Disqualifiers: Pregnancy, Fecal incontinence, Prolapse, others

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

Approved in 3 Jurisdictions This treatment is already approved in other countries

Compensation: Varies

Number of Visits: 13

Duration: 12 weeks

12 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial explores a new method to assist women with myotonic dystrophy type 1 (DM1) who experience urinary incontinence. The focus is on pelvic floor muscle training (also known as pelvic floor muscle therapy or Kegel exercises), which has helped others with similar issues. Participants will engage in a 12-week exercise program to determine if it can improve their condition. Women with DM1 who struggle with urinary leaks might be suitable candidates for this trial. As an unphased trial, this study provides a unique opportunity to explore innovative solutions for managing urinary incontinence in DM1 patients.

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 pelvic floor muscle training is safe for women with myotonic dystrophy type 1?

Research shows that pelvic floor muscle training (PFMT) is a safe and well-tolerated treatment. Studies have found that PFMT effectively strengthens pelvic floor muscles and helps with urinary incontinence. Many people have used these exercises successfully without major side effects. Although limited information exists on PFMT specifically for individuals with myotonic dystrophy type 1 (DM1), no evidence suggests an increased risk for them. Overall, PFMT is a non-invasive method, making it a generally safe option for those considering this type of training. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Unlike the standard treatments for myotonic dystrophy, which often focus on medications to manage symptoms, pelvic floor muscle training offers a non-invasive approach that targets the root cause of pelvic floor weakness. Researchers are excited about this treatment because it empowers patients to actively engage in their own care through specific exercises, potentially improving quality of life without the side effects associated with drugs. This method emphasizes strengthening the pelvic muscles, which could lead to better control and function, offering a unique and proactive alternative to traditional symptom management.

What evidence suggests that pelvic floor muscle training might be an effective treatment for urinary incontinence in myotonic dystrophy?

Research shows that pelvic floor muscle training (PFMT), which participants in this trial will receive, can help reduce or even stop urinary incontinence in many people. Studies indicate that these exercises are effective for 29% to 59% of participants. By strengthening the pelvic floor muscles, the exercises help control urine leakage. Although no specific study has focused on PFMT for urinary incontinence in people with myotonic dystrophy type 1 (DM1), experts believe it could offer similar benefits. Since research has shown that muscle strength can be improved in people with DM1, exercises targeting the pelvic floor might also be helpful for them. ^{1 4 5 6 7}

Are You a Good Fit for This Trial?

This trial is for women with Myotonic Dystrophy type 1 (DM1) who experience urinary incontinence. Participants should have a confirmed diagnosis of DM1 and be dealing with issues related to pelvic floor muscle weakness.

Inclusion Criteria

Able to give a free and informed consent

I experience sudden urges to urinate or leak urine due to stress or urge.

I have been diagnosed with adult-onset myotonic dystrophy type 1.

Exclusion Criteria

Present post-void residual urine ≥ 150 ml

I have had physiotherapy or surgery for pelvic floor issues.

Have a defibrillator, pacemaker or bladder stimulator

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants follow a 12-week pelvic floor muscle training program, comprising weekly sessions with an experienced physiotherapist and a home exercise program

12 weeks

12 visits (in-person), weekly home exercises

Follow-up

Participants are monitored for safety and effectiveness after treatment, including assessments of urinary incontinence and pelvic floor function

2 weeks

1 visit (in-person)

What Are the Treatments Tested in This Trial?

Interventions

• Pelvic Floor Muscle Training

Trial Overview

The study tests the effectiveness of a 12-week Pelvic Floor Muscle Training program, which includes weekly sessions with a physiotherapist and exercises at home, on reducing urinary incontinence in women with DM1.

How Is the Trial Designed?

Group I: Pelvic floor muscle training Experimental Treatment 1 Intervention

Pelvic Floor Muscle Training is already approved in United States, European Union, Canada for the following indications:

Approved in United States as Pelvic Floor Muscle Training for:

• Overactive Bladder (OAB)
• Urgency Urinary Incontinence (UUI)
• Pelvic Floor Dysfunction

Approved in European Union as Pelvic Floor Muscle Training for:

• Overactive Bladder (OAB)
• Urgency Urinary Incontinence (UUI)
• Pelvic Floor Dysfunction

Approved in Canada as Pelvic Floor Muscle Training for:

• Overactive Bladder (OAB)
• Urgency Urinary Incontinence (UUI)
• Pelvic Floor Dysfunction

Who Is Running the Clinical Trial?

Université de Sherbrooke

Lead Sponsor

Trials

317

Recruited

79,300+

Interdisciplinary research team on neuromuscular diseases (GRIMN)

Collaborator

Trials

1

Recruited

10+

Centre de recherche du Centre hospitalier universitaire de Sherbrooke

Collaborator

Trials

64

Recruited

33,600+

CIUSSS Saguenay-Lac-Saint-Jean

Collaborator

Trials

1

Recruited

10+

Published Research Related to This Trial

In a 9-year study of 113 adults with myotonic dystrophy type 1, performance-based measures like the Timed Up and Go test and Berg Balance Scale effectively captured changes in mobility, balance, and muscle strength, aligning with patient-reported outcomes.

While most measures showed promising responsiveness, grip strength and manual dexterity assessments were less responsive, highlighting the importance of understanding measurement errors when interpreting long-term changes.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Responsiveness of performance-based outcome measures for mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1. Kierkegaard, M., Petitclerc, É., Hébert, LJ., et al.[2019]

A pelvic floor muscle training (PFMT) program was developed and found to be acceptable among pregnant women in Nepal, with 57% attending the recommended four or more supervised visits.

The program showed promise in motivating women to perform daily PFMT at home, although no significant differences in urinary incontinence or pelvic organ prolapse symptoms were observed between those who attended the visits and those who did not.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Pelvic floor muscle training programme in pregnant Nepalese women-a feasibility study. Shijagurumayum Acharya, R., Tveter, AT., Grotle, M., et al.[2021]

A survey of 415 Thai women revealed that many were unaware of the benefits of pelvic floor muscle training (PFMT) for managing conditions like urinary incontinence and pelvic organ prolapse, with 50% lacking knowledge about its efficacy.

Despite the limited understanding, a significant majority (84.6%) of women expressed willingness to practice PFMT if informed about its benefits, indicating a potential for increased acceptance and utilization of this intervention.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Knowledge and acceptance of Thai women toward the pelvic floor muscle training. Tantisiriwat, N., Manchana, T.[2015]

The study describes two siblings with myotonic dystrophy who experienced faecal incontinence, highlighting the involvement of gastrointestinal muscles as a key feature of the disease.

Despite attempts at both medical and surgical management, long-term treatment for faecal incontinence was not successful, indicating the complexity of managing this condition in patients with myotonic dystrophy.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Faecal incontinence in myotonic dystrophy. Abercrombie, JF., Rogers, J., Swash, M.[2019]

Myotonic dystrophy is a genetic disorder with two types, each caused by different repeat expansions in specific genes, leading to muscle weakness and various multisystem issues, with type 1 being more severe and variable in onset than type 2.

Currently, there are no disease-modifying therapies for myotonic dystrophy, but promising preclinical research is exploring potential treatments like genome editing and antisense oligonucleotides to address the underlying RNA toxicity and improve patient outcomes.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease. LoRusso, S., Weiner, B., Arnold, WD.[2019]

Proprioceptive neuromuscular facilitation (PNF) breathing exercises significantly improved arterial oxygen saturation (SpO2) in patients with myotonic dystrophy, with increases of 2.2% in high support sitting and 2.6% in left side-lying positions.

Both PNF and staged basal expansion (SBE) techniques led to substantial increases in thoraco-abdominal motion (TAM) and a decrease in respiratory rate, indicating enhanced respiratory function in these patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

A study of the facilitation of respiration in myotonic dystrophy. Nitz, J., Burke, B.[2019]

In a study of six patients with myotonic dystrophy, 33% reported micturitional symptoms, including difficulty urinating and urinary urgency, highlighting the need for more attention to urinary issues in this condition.

Urodynamic studies revealed various abnormalities, such as low urethral closure pressure and bladder capacity issues, suggesting that both muscle changes and nerve dysfunction contribute to urinary disturbances in these patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Micturitional disturbance in myotonic dystrophy. Sakakibara, R., Hattori, T., Tojo, M., et al.[2019]

A 10-week home-based exercise program for men with myotonic dystrophy type 1 (DM1) showed improvements in functional mobility and strength, particularly in knee flexor strength, despite no significant differences in other measured outcomes.

Participants found the program and the use of an assistive training device to be well-accepted, suggesting that such non-pharmacological interventions could enhance quality of life and reduce healthcare costs for individuals with DM1.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1. Lessard, I., Gaboury, S., Gagnon, C., et al.[2021]

A systematic review of 75 studies on myotonic dystrophy type 1 (DM1) revealed a variety of genitourinary and lower gastrointestinal symptoms, including urinary incontinence and erectile dysfunction, but most studies lacked quality and standardized assessment methods.

There is currently no experimental evidence evaluating the efficacy of treatments for genitourinary and gastrointestinal issues in DM1, highlighting a significant gap in research and the need for better-defined studies using standardized questionnaires.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice. Fisette-Paulhus, I., Gagnon, C., Girard-Côté, L., et al.[2022]

In a randomized controlled trial involving 159 women with severe pelvic organ prolapse (POP), preoperative pelvic floor muscle training (PFMT) did not show any additional benefits in reducing urinary and colorectal-anal distress or improving quality of life compared to a control group.

Despite the lack of added benefit from PFMT, all participants experienced significant improvements in their symptoms and quality of life after surgery, indicating that surgery alone is effective for managing these issues.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The effect of preoperative pelvic floor muscle training on urinary and colorectal-anal distress in women undergoing pelvic organ prolapse surgery-a randomized controlled trial. Mathew, S., Nyhus, MØ., Salvesen, Ø., et al.[2022]

A study of 49 women over 60 months showed that pelvic floor muscle training (PFMT) significantly improved symptoms of mild prolapse and stress urinary incontinence, with 65% of patients in the mild prolapse group reporting substantial improvement.

PFMT was effective as both a first-line treatment and a follow-up for patients who had previously undergone surgery, with 55.5% of post-surgery patients experiencing complete resolution of their symptoms.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Long-term outcomes of perineal rehabilitation. Torella, M., Schettino, MT., Tammaro, C., et al.[2014]

Postpartum pelvic floor muscle training (PFMT) significantly reduces bothersome symptoms of pelvic organ prolapse (POP) and urinary incontinence (UI), particularly stress urinary incontinence, based on a meta-analysis of 15 randomized controlled trials involving 3845 women.

While PFMT may improve sexual function and could benefit women with anal sphincter injuries regarding anal incontinence, its effect on the actual staging of POP remains uncertain, indicating a need for more high-quality research in this area.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Pelvic Floor Muscle Training Versus Watchful Waiting and Pelvic Floor Disorders in Postpartum Women: A Systematic Review and Meta-analysis. Wu, YM., McInnes, N., Leong, Y.[2019]

In a survey of 152 myotonic dystrophy patients, 68% reported issues with bowel control, indicating a significant prevalence of gastrointestinal symptoms in this population.

32% of patients experienced faecal incontinence in the month prior to the survey, and 37% had to change their lifestyle due to incontinence, highlighting the impact of these symptoms on daily life and the need for further research.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The prevalence of faecal incontinence in myotonic dystrophy type 1. Petty, RKH., Eugenicos, MP., Hamilton, MJ., et al.[2021]

In a study of patients with myotonic dystrophy types 1 (DM1) and 2 (DM2), gastrointestinal (GI) issues were prevalent, with 55% of DM1 patients reporting swallowing difficulties and 53% of DM2 patients experiencing constipation at baseline.

Over a 5-year period, GI symptoms persisted, with new cases of swallowing problems in DM1 and constipation in DM2, highlighting the need for further research into how factors like body mass index and disease duration influence these symptoms.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. Hilbert, JE., Barohn, RJ., Clemens, PR., et al.[2023]

Citations

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PFM training have already been shown to be effective in reducing or even eliminating urinary incontinence in the general population. However, no ...

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Objective: To evaluate the effect of pelvic floor muscle training (PFMT) or Kegel exercise with and without assistance by a resistance device (Kegelmaster ...

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bmcwomenshealth.biomedcentral.com/articles/10.1186/s12905-022-01742-w

Mechanisms of pelvic floor muscle training for managing ...

Pelvic floor muscle training is recommended as first line treatment for urinary incontinence in women based on three proposed theorized mechanisms.

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myotonic.org/sites/default/files/2025-04/Poster_Abstracts_2025.pdf

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This study evaluates sexual and pelvic floor function in at-birth females with DM1,. DM2, and facioscapulohumeral muscular dystrophy (FSHD), the latter having ...

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This study has the potential to improve the management of urinary incontinence and support the implementation of pelvic floor rehabilitation ...

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Comparison of Two Different Pelvic Floor Muscle Training ...

PFMT aims to improve pelvic floor muscle strength, endurance and relaxation ability or a combination of these. PFMT is a structured and customized exercise ...