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

Summary

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.

Conditions

• Myotonic Dystrophy 1

Interventions

DIAGNOSTIC_TEST

MRI scan

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

DIAGNOSTIC_TEST

Electrocardiography

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

DIAGNOSTIC_TEST

Pulmonary function test

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

DIAGNOSTIC_TEST

Electrocardiography and 24-hour Holter monitoring

Electrocardiography and 24-hour Holter monitoring

PROCEDURE

Skeletal muscle biopsy (residual specimen)

Skeletal muscle biopsy (residual specimen)

DEVICE

Wearable-device continuous physiological monitoring

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

BEHAVIORAL

Video and voice recording for AI analysis

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

Sponsors & Collaborators

• Huashan Hospital

  lead OTHER

Principal Investigators

• Chongbo Zhao, PhD · Huashan Hospital

Eligibility

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2021-08-01

Primary Completion

2030-08-01

Completion

2035-12-30

Countries

• China

Study Locations