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)

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.