Music Intervention for Brain-Heart Disease in Myotonic Dystrophy Type 1 (DM1)

The goal of this interventional study is to demonstrate the feasibility and tolerability of music and movement intervention for children with congenital DM1, while providing indications of its effectiveness in improving brain and heart symptoms of DM1. Additionally, information from the collection of biological samples and wearable devices (accelerometer, EEG headband and ECG chest strap) will be used to identify brain-heart biomarkers and outcome measures for use in future research and trials.

Researchers will compare the results of physical and cognitive assessments for each participant to assessments from baseline after 10 weeks of weekly music sessions. Qualitative measures (questionnaires and focus groups) will inform the feasibility of this intervention for this population. The main questions this study aims to answer are:

• Are weekly music education sessions feasible for children with DM1?
• Are weekly music education sessions tolerable for children with DM1?

Participants will:

• Attend 45-minute-long music sessions once weekly for 10 weeks.
• Attend two clinic visits for cognitive and physical assessments.
• Provide blood, saliva, stool and urine samples.
• Use wearable devices both at-home and during music sessions.
• Parents/caregivers of participants will complete questionnaires and participate in three focus groups.

Progression from feasibility study to a full-scale clinical trial will be informed by four progression criteria:

1. The feasibility of attendance, as assessed by attendance rate to 10 music sessions (≥ 60%)
2. Feasibility of attendance, as rated by parents/caregivers of participants (≥60% rate "extremely" or "very" practical to attend)
3. Attrition rate of the study, as determined by percentage of participants who complete the study (≥ 60%)
4. Overall satisfaction, as rated by parents/caregivers of participants (≥60% rate "very satisfied" or "satisfied")

Study Overview

• Status: Recruiting
• Conditions: Myotonic Dystrophy Type 1; Myotonic Dystrophy Type 1 (DM1); Myotonic Dystrophy, Type 1 (DM1); Myotonic Dystrophy, Congenital
• Intervention / Treatment: Behavioral: Music and movement education

• Study Type: Interventional
• Enrollment (Estimated): 13
• Phase: Not Applicable

Contacts and Locations

Study Locations

• Canada
  • Ontario
    • Ottawa, Ontario, Canada, K1H 8L1
      • Recruiting
      • Children's Hospital of Eastern Ontario
      • Contact: Dr. Hanns Lochmuller; Phone Number: 4014 613-737-7600; Email: hlochmuller@toh.ca
      • Contact: Tamara Burgess; Phone Number: 6651 613-737-7600; Email: tburgess@cheo.on.ca

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Participants between the ages of 6 to 18 with genetically confirmed congenital or infantile-onset myotonic dystrophy type 1 (DM1).
• Participants willing to stay on stable medication from the day of screening to end of study.

Exclusion Criteria:

• Insufficient English language skills to complete required assessments and questionnaires.
• Participant is non-verbal.
• Failure to provide signed informed consent by participant or designated decision maker (i.e. parent, legal guardian or power of attorney).
• Failure to provide signed informed consent by parents/caregivers for dyad participation.
• Participant is not a resident of Canada, due to risk of attrition.
• Patients for whom - in the opinion of the investigator - it would not be safe to participate in the study.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: Music Intervention; All participants will receive weekly music and movement education sessions.

Behavioral: Music and movement education; The music and movement intervention is partially inspired by an adaptive music-education method called Dalcroze eurhythmics. It focuses on free and improvised movement, as well as structure and choreographed sequences. It has been successfully applied to similar populations as an effective, accessible, and sustainable intervention. We hope to use this music and movement education to employ a holistic approach to improve the brain-heart symptoms of children with congenital DM1.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Attendance to Each Music Session	Participant attendance rate to 10 music sessions.	Over 10-week block of music sessions
Attendance to Block of Music Sessions	The proportion of participants who attend all 10 music sessions.	Over 10-week block of music sessions
Qualitative Feedback from Parents/Caregivers Following Each Music Session	Parents/Caregivers will complete short questionnaires following each of the 10 music sessions. Questions will focus on recall of participant mood, tiredness and engagement in the 24 hours immediately following each music session.	Following each music session through to the final music session.

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in Physical Performance Assessed by the 6-Minute Walk Test (6MWT)	The 6-minute walk test involves the participant walking unaccompanied along a 30m hallway as far as possible within a 6-minute period.	Baseline and 1 week following the final music session.
Change from Baseline in Clinical Phenotype Assessed by the Clinician-Completed Congenital DM1 Rating Scale (CDM1-RS)	The clinician rates the severity of 11 key symptoms over the past week on a 5-point Likert scale from 0 (least severe) to 4 (most severe).	Baseline and 1 week following the final music session.
Change in Global IQ Assessed by Wechsler Abbreviated Scale of Intelligence Second Edition (WASI-II)	The WASI-II is a standardized measure of overall intelligence, with a higher score corresponding to higher intellectual ability.	Baseline and 1 week following the final music session.
Change in Attention Assessed by Bells Assessment	In the Bells assessment, the participant is asked to circle all the bells on a page with other images as distractors. The maximum score is 35/35 bells.	Baseline and 1 week following the final music session.
Change in Working Memory Assessed by NIH List Sorting Working Memory Test		Baseline and 1 week following the final music session.
Change in Executive Functioning Assessed by Dimensional Change Card Sort	The participant is asked to match a series of picture pairs to a target picture.	Baseline and 1 week following the final music session.
Change in Visuospatial Skills Assessed by Rex Complex Figure - Copy		Baseline and 1 week following the final music session.
Change in Episodic Memory Assessed by NIH Picture Sequence Memory Test		Baseline and 1 week following the final music session.
Change in Receptive Vocabulary Assessed by Peabody Picture Vocabulary Test (PPVT-5)	A measure of receptive vocabulary with scores ranging from 0 (lower receptive vocabulary skills) to 175 (higher receptive vocabulary skills).	Baseline and 1 week following the final music session.
Change in Mood and Anxiety Assessed by Mood and Feelings Questionnaire (MFQ)	Participants self-report the applicability of phrases as true, sometimes true, or not true.	Baseline and 1 week following the final music session.
Change in Adaptive Functioning Assessed by Vineland Adaptive Behaviour Scale		Baseline and 1 week following the final music session.
Change in Quality of Life Assessed by Pediatric Quality of Life Inventory (PedsQL)	Participant and their parents report on the frequency (never to almost always) of specific health-related quality of life problems. A higher score indicates poorer quality of life.	Baseline and 1 week following the final music session.
Change in Sleep Quality Assessed by Children's Sleep Habits Questionnaire	Parent completed questionnaire to assess participant sleep behaviours. Each question is rate on a 3-point scale. Total scores can range from 33-99, with a score higher than 41 suggesting the presence of a childhood sleep disorder.	Baseline and 1 week following the final music session.
Assessment of Cardiac Conduction Defects by Electrocardiogram (ECG)	Participants will receive clinical ECG testing to assess for the presence of cardiac conduction defects.	Baseline and 1 week following the final music session.
Changes in Attention Assessed by Conners Continuous Performance Test Third Edition (CPT3)	Participants are instructed to press the spacebar of a computer each time the letter X appears. A higher score indicates worse performance.	Baseline and 1 week following the final music session.
Change in Executive Functioning Assessed by Behaviour Rating Inventory of Executive Functioning (BRIEF2)	The score ranges from 80-240, with a higher score indicating greater executive dysfunction.	Baseline and 1 week following the final music session.
Change in Physical Performance Assessed by the 10-meter walk/run test (10-mW/RT)	For the 10-meter walk/run test, the participant walks/runs without assistance for 12 meters while the time taken to walk from meter 1 to meter 11 is recorded with a stopwatch. The test will be repeated 2-3 times, with a minimum of 10-15 seconds of rest between trials to avoid fatigue.	Baseline and 1 week following the final music session.
Change in Physical Activity Assessed by Accelerometer	Actigraph wGT3X-BT accelerometer will be worn for continuous tracking of activity for two 7-day periods.	Baseline and 1 week following the final music session.
Change in Affect Assessed by Positive and Negative Affect Scale - Child (PANAS-C)	Participants self-report the frequency each feeling or emotion was experienced on a 5-point Likert scale.	Baseline and 1 week following the final music session.
Change in Anxiety Assessed by State-Trait Anxiety Inventory Scale-5 (STAIS-5)		Baseline and 1 week following the final music session
Change in Sleep Quality Assessed by Electroencephalogram (EEG) Headband	Participants will wear a Muse-EEG headband overnight. Measures of sleep architecture will inform overall sleep quality.	Nightly for 7 days at baseline and 1 week following the final music session.
Assessment of Heart Rate Variability by Wearable Electrocardiogram (ECG) Chest Strap	Participants will wear a Polar H10 ECG chest strap for at-home monitoring of heart rate.	Over 7-day period at baseline and following final music intervention.

Collaborators and Investigators

• Sponsor: Hanns Lochmuller
• Collaborators: University of Ottawa

Study record dates

Study Major Dates

• Study Start (Actual): March 25, 2025
• Primary Completion (Estimated): July 1, 2026
• Study Completion (Estimated): July 1, 2026

Study Registration Dates

• First Submitted: January 27, 2025
• First Submitted That Met QC Criteria: January 30, 2025
• First Posted (Actual): February 5, 2025

Study Record Updates

• Last Update Posted (Actual): February 19, 2026
• Last Update Submitted That Met QC Criteria: February 17, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: DM1; Rare disease; Music intervention; Myotonic dystrophy
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Pathologic Processes; Neuromuscular Diseases; Disease Attributes; Genetic Diseases, Inborn; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Muscular Disorders, Atrophic; Muscular Dystrophies; Myotonic Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Rare Diseases; Myotonic Dystrophy
• Other Study ID Numbers: 24/143X; CFREF-2022-00007 (Other Grant/Funding Number: Canada First Research Excellence Fund); BHI 23-118 (Other Grant/Funding Number: uOttawa Brain-Heart Interconnectome)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES
• IPD Plan Description: De-identified quantitative data including, results of cognitive and physical assessments and wearable device measurements.
• IPD Sharing Access Criteria: IPD will be stored within the ARCHIMEDES health data portal and accessible to qualified researchers with a research plan approved by a data access committee. Supporting information (protocol and informed consent forms) will be available as a publication.
• IPD Sharing Supporting Information Type: STUDY_PROTOCOL; ICF

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No