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

Trial Summary

What is the purpose of this trial?

Myotonic dystrophy type 1 (DM1) is a neuromuscular disease characterized by multisystem manifestations. DM1 can affect the urinary system through the impact of the pelvic floor muscles (PFM). Urinary incontinence can occur in this situation and is often offset with compensatory measures without restoring the PFM function (e.g. sanitary pads). PFM training have already been shown to be effective in reducing or even eliminating urinary incontinence in the general population. However, no study has been the subject of this modality in people with DM1. Having recently shown that it is possible to gain strength with DM1, a strengthening protocol targeting PFM could prove effective in treating urinary incontinence. The objectives of this study are i) to assess the feasibility and acceptability of PFM training and ii) to investigate the effects of PFM training in women with DM1 with adult phenotype. A quasi-experimental study will be conducted with 12 women having a confirmed diagnosis of DM1 with urinary incontinence. Participants will follow a 12-week PFM training program, comprising weekly sessions with an experienced physiotherapist as well as a home exercise program. Outcomes measures will be assessed at baseline and at post-treatment and will include: feasibility and acceptability variables, frequency of urinary incontinence, urogynecological symptoms and their impact on quality of life, morphometry and function of PFM, and the perceived improvement following the treatments. This study has the potential to improve the management of urinary incontinence and support the implementation of pelvic floor rehabilitation services in this population.

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 data supports the effectiveness of the treatment Pelvic Floor Muscle Training for Myotonic Dystrophy?

Pelvic Floor Muscle Training (PFMT) has been shown to help with urinary incontinence and mild pelvic organ prolapse in various studies. While these conditions are different from myotonic dystrophy, the positive effects of PFMT on muscle control and quality of life in these areas suggest it might also be beneficial for managing symptoms related to myotonic dystrophy. ^{1 2 3 4 5}

Is Pelvic Floor Muscle Training safe for humans?

Pelvic Floor Muscle Training, also known as Kegel Exercises, is generally considered safe for humans and is commonly used to strengthen pelvic muscles for various conditions, although specific safety data for myotonic dystrophy is not available. ^{6 7 8 9 10}

How is Pelvic Floor Muscle Training different from other treatments for myotonic dystrophy?

Pelvic Floor Muscle Training is unique because it focuses on strengthening the pelvic floor muscles, which can help manage symptoms like bowel and urinary incontinence that are common in myotonic dystrophy. Unlike other treatments that may involve medication or surgery, this therapy is non-invasive and involves exercises similar to Kegel exercises, making it a safe and accessible option. ^{6 11 12 13 14}

Eligibility Criteria

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

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

Able to give a free and informed consent

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

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)

Treatment Details

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.

Participant Groups

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+

Findings from Research

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]

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]

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 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 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]

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]

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]

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]

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]

References

1. England 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. [2022]

2. Italy pubmed.ncbi.nlm.nih.gov

Long-term outcomes of perineal rehabilitation. [2014]

3. United States 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. [2019]

4. England pubmed.ncbi.nlm.nih.gov

Pelvic floor muscle training programme in pregnant Nepalese women-a feasibility study. [2021]

5. Thailand pubmed.ncbi.nlm.nih.gov

Knowledge and acceptance of Thai women toward the pelvic floor muscle training. [2015]

6. England pubmed.ncbi.nlm.nih.gov

The prevalence of faecal incontinence in myotonic dystrophy type 1. [2021]

7. Sweden 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. [2019]

8. England 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. [2022]

9. United States pubmed.ncbi.nlm.nih.gov

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease. [2019]

10. United States pubmed.ncbi.nlm.nih.gov

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. [2023]

11. England pubmed.ncbi.nlm.nih.gov

Faecal incontinence in myotonic dystrophy. [2019]

12. United States pubmed.ncbi.nlm.nih.gov

A study of the facilitation of respiration in myotonic dystrophy. [2019]

13. Netherlands pubmed.ncbi.nlm.nih.gov

Micturitional disturbance in myotonic dystrophy. [2019]

14. Netherlands pubmed.ncbi.nlm.nih.gov

Effects and Acceptability of an Individualized Home-Based 10-Week Training Program in Adults with Myotonic Dystrophy Type 1. [2021]