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Background <p>Myotonic dystrophy type 1 (DM1) is a rare autosomal dominant inherited multi-systemic disease affecting neuromuscular, cognitive, and cardiac function. Congenital DM1 (CDM) is the most severe form of the disease and is associated with learning difficulties, autism-like traits, and cardiac conduction defects. There is no approved pharmacological therapy for CDM. While music interventions have been shown to positively impact children with similar brain and heart symptoms, like cerebral palsy and autism, this type of non-pharmacological intervention has not been tested in CDM. Therefore, this convergent mixed-methods study will assess the tolerability and feasibility of a 10-week music and movement intervention for children with CDM.</p> Methods/design <p>Participants will be recruited from the pediatric neuromuscular clinic at the Children’s Hospital of Eastern Ontario (CHEO). In a dyad participation model, parents of participants will also engage to inform the overall feasibility. There will be two groups with 6–8 participants each. Group allocation will not be randomized but will be based on age and physical and mental ability. A baseline visit will be followed by a 10-week intervention phase with one music and movement intervention session per week. Sessions will include physical assessments and questionnaires. The primary outcome is the feasibility and tolerability of these music interventions. Secondary outcome measures include cognitive and physical assessments, as well as measures of quality of life, sleep quality, and biomarkers.</p> Discussion <p>This study will demonstrate the feasibility and tolerability of music and movement intervention for pediatric participants with CDM, while providing an indication of its impacts on brain and heart function for this multi-system disease. Results from this study will inform the implementation of a larger-scale trial as well as the development of other non-pharmacological feasibility studies in this population.</p> Trial registration <p>Clinicaltrials.gov number: NCT06809049. Registered 30 Jan 2025. <a href="https://clinicaltrials.gov/study/NCT06809049?id=NCT06809049&amp;rank=1">https://clinicaltrials.gov/study/NCT06809049?id=NCT06809049&amp;rank=1</a>.</p>

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Music and movement intervention for brain-heart disease in children with myotonic dystrophy type 1 (DM1): a convergent mixed-methods feasibility study protocol

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年8月5日

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  • Astrid Eisenkölbl,
  • Tamara Burgess,
  • Heather Howley,
  • Erin Parkes,
  • Gilles Comeau,
  • Jason A. Berard,
  • Lisa A. S. Walker,
  • Angela Woollam,
  • Amanda Yaworski,
  • Hugh McMillan,
  • Hanns Lochmüller

摘要

Background

Myotonic dystrophy type 1 (DM1) is a rare autosomal dominant inherited multi-systemic disease affecting neuromuscular, cognitive, and cardiac function. Congenital DM1 (CDM) is the most severe form of the disease and is associated with learning difficulties, autism-like traits, and cardiac conduction defects. There is no approved pharmacological therapy for CDM. While music interventions have been shown to positively impact children with similar brain and heart symptoms, like cerebral palsy and autism, this type of non-pharmacological intervention has not been tested in CDM. Therefore, this convergent mixed-methods study will assess the tolerability and feasibility of a 10-week music and movement intervention for children with CDM.

Methods/design

Participants will be recruited from the pediatric neuromuscular clinic at the Children’s Hospital of Eastern Ontario (CHEO). In a dyad participation model, parents of participants will also engage to inform the overall feasibility. There will be two groups with 6–8 participants each. Group allocation will not be randomized but will be based on age and physical and mental ability. A baseline visit will be followed by a 10-week intervention phase with one music and movement intervention session per week. Sessions will include physical assessments and questionnaires. The primary outcome is the feasibility and tolerability of these music interventions. Secondary outcome measures include cognitive and physical assessments, as well as measures of quality of life, sleep quality, and biomarkers.

Discussion

This study will demonstrate the feasibility and tolerability of music and movement intervention for pediatric participants with CDM, while providing an indication of its impacts on brain and heart function for this multi-system disease. Results from this study will inform the implementation of a larger-scale trial as well as the development of other non-pharmacological feasibility studies in this population.

Trial registration

Clinicaltrials.gov number: NCT06809049. Registered 30 Jan 2025. https://clinicaltrials.gov/study/NCT06809049?id=NCT06809049&rank=1.