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NCT Number: NCT06101940

Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)

Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystem disorder caused by an expanded CTG trinucleotide repeat in the 3' untranslated region of the DMPK gene. Beyond myotonia and progressive skeletal muscle weakness, DM1 involves the cardiac, respiratory, central nervous, gastrointestinal, endocrine, and ocular systems, and respiratory and cardiac involvement are the leading causes of disability and death. Systematic, long-term outcome data in Chinese DM1 patients are lacking.

C-DMCOS-DM1 is a multicenter, prospective, observational cohort study that systematically records demographic data, multisystem involvement, and predefined disability-related clinical outcome events in genetically confirmed Chinese DM1 patients, with regular follow-up every 3 to 6 months. The study also collects residual blood, skeletal muscle, myocardium (when a pacemaker is implanted), and urine specimens for transcriptomic and other molecular studies. The aims are to characterize the disease burden of Chinese DM1 patients, identify risk and prognostic factors for disabling outcomes, and build risk-prediction models to inform follow-up, management, and future clinical trials.

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Key information

Conditions

Myotonic Dystrophy 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Musculoskeletal Diseases Myotonic Disorders Myotonic Dystrophy Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Chinese People's Liberation Army General Hospital, Beijing, Beijing Municipality, China

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About this study

This multicenter, prospective, observational cohort study (no randomization, no control, no intervention) enrolls genetically confirmed DM1 patients across Chinese neuromuscular centers and follows them every 3 to 6 months. At baseline and each visit, the study collects demographics, clinical subtype, symptoms and rating scales, manual muscle testing and the Muscular Impairment Rating Scale (MIRS), quantitative motor measures (grip strength, 10-Metre Walk Test [10MWT], Video Hand Opening Time [vHOT]), cardiac assessment (electrocardiography and 24-hour Holter), pulmonary function testing, echocardiography, laboratory tests, computerized cognitive assessment, and video and voice recordings of gait, hand grip, and facial movement for artificial-intelligence analysis. Wearable devices are encouraged for continuous monitoring of heart rate and heart rate variability, blood oxygen saturation, respiratory rate, sleep and nocturnal respiratory events, and daily physical activity.

Predefined disability-related outcome events are tracked cumulatively, including loss of independent ambulation, respiratory failure, non-invasive or invasive mechanical ventilation, tracheostomy, cardiac pacemaker or implantable cardioverter-defibrillator (ICD) implantation, early cataract surgery, malignancy, and death. Residual blood, skeletal muscle, myocardium (when a pacemaker is implanted), and urine specimens are collected for RNA sequencing, mitochondrial DNA analysis, and other molecular studies. Statistical analysis includes descriptive characterization, Kaplan-Meier and Cox proportional-hazards survival analysis, competing-risk models, and multivariable regression to identify risk and prognostic factors and to build risk-prediction models.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Genetically confirmed DM1 (CTG repeat expansion in the 3' untranslated region of the DMPK gene).
  • Any sex.
  • Able to attend regular follow-up and willing to provide and store residual blood, urine, and other biospecimens for research.
  • Voluntary participation with signed informed consent (signed by legal guardian for minors).
  • Consent to use of routine clinical, examination, and follow-up data for research.

Exclusion criteria

  • Unable to comply with study procedures.
  • Unable to provide informed consent, or guardian declines participation.
  • Pregnancy (for MRI safety).
  • Severe, unstable medical condition that precludes assessments.

Treatment and study plan

MRI scan

Diagnostic Test

Brain MRI scan to evaluate the integrity of the nervous system; lower limb muscle MRI scan to evaluate fat infiltration in skeletal muscles of the lower limb

Electrocardiography

Diagnostic Test

Standard 12-lead electrocardiography or Holter monitoring performed to assess cardiac conduction abnormalities and arrhythmias in patients with DM1.

Pulmonary Function Test

Diagnostic Test

Comprehensive pulmonary function testing including spirometry to assess respiratory muscle weakness and restrictive lung disease in DM1 patients.

Electrocardiography and 24-hour Holter monitoring

Diagnostic Test

Electrocardiography and 24-hour Holter monitoring

Skeletal muscle biopsy (residual specimen)

Procedure

Skeletal muscle biopsy (residual specimen)

Wearable-device continuous physiological monitoring

Device

Wearable-device continuous physiological monitoring (heart rate, blood oxygen saturation, respiration, physical activity, sleep)

Video and voice recording for AI analysis

Behavioral

Video and voice recording for AI analysis (gait, hand grip, facial movement, speech)

Primary outcomes

  1. Cumulative incidence and time to first major disability-related clinical outcome event

    Time frame: From enrollment up to 10 years

    Proportion of participants experiencing, and time to first occurrence of, predefined disability-related outcome events: loss of independent ambulation, respiratory failure, non-invasive mechanical ventilation, invasive mechanical ventilation, tracheostomy, cardiac pacemaker implantation, implantable cardioverter-defibrillator (ICD) implantation, early cataract surgery, malignancy, and death. Each event is recorded with its date of first occurrence.

Secondary outcomes

  1. Change in 10-Metre Walk Test (10MWT)

    Time frame: Baseline, Year 1, Year 3, Year 5, Year 10

    Time in seconds to walk 10 metres, assessing functional mobility.

  2. Change in Video Hand Opening Time (vHOT)

    Time frame: Baseline, Year 1, Year 3, Year 5, Year 10

    Time to fully open the hand after making a fist, an objective measure of myotonia severity.

  3. Change in Muscular Impairment Rating Scale (MIRS)

    Time frame: Baseline, Year 1, Year 3, Year 5, Year 10

    Five-point clinical rating of muscle impairment in DM1.

  4. Change in forced vital capacity (FVC, % predicted)

    Time frame: Baseline, Year 1, Year 3, Year 5, Year 10

    Pulmonary function measure reflecting respiratory involvement.

  5. Change in Epworth Sleepiness Scale (ESS)

    Time frame: Baseline, Year 1, Year 3, Year 5, Year 10

    0 to 24 scale of daytime sleepiness; higher scores indicate greater sleepiness.

  6. Change in Fatigue Severity Scale (FSS)

    Time frame: Baseline, Year 1, Year 3, Year 5, Year 10

    9-item fatigue scale; higher scores indicate more severe fatigue.

Sponsors and collaborators

Lead sponsor

Huashan Hospital

Other

Registry information

Official study title

A Multicenter, Prospective, Observational Cohort Study of Multi-System Involvement and Disability-Related Clinical Outcomes in Chinese Patients With Myotonic Dystrophy Type 1 (C-DMCOS-DM1)

Acronym: C-DMCOS-DM1

Important dates

Study start
2021
Primary completion
2030
Study completion
2035
First posted
Oct 26, 2023
Registry last updated
Jun 2, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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