Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)
C-DMCOS-DM1
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)
1 other identifier
observational
1,000
1 country
22
Brief 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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Aug 2021
Longer than P75 for all trials
22 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
August 1, 2021
CompletedFirst Submitted
Initial submission to the registry
August 2, 2021
CompletedFirst Posted
Study publicly available on registry
October 26, 2023
CompletedPrimary Completion
Last participant's last visit for primary outcome
August 1, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 30, 2035
June 2, 2026
May 1, 2026
9 years
August 2, 2021
May 30, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Cumulative incidence and time to first major disability-related clinical outcome event
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.
From enrollment up to 10 years
Secondary Outcomes (6)
Change in 10-Metre Walk Test (10MWT)
Baseline, Year 1, Year 3, Year 5, Year 10
Change in Video Hand Opening Time (vHOT)
Baseline, Year 1, Year 3, Year 5, Year 10
Change in Muscular Impairment Rating Scale (MIRS)
Baseline, Year 1, Year 3, Year 5, Year 10
Change in forced vital capacity (FVC, % predicted)
Baseline, Year 1, Year 3, Year 5, Year 10
Change in Epworth Sleepiness Scale (ESS)
Baseline, Year 1, Year 3, Year 5, Year 10
- +1 more secondary outcomes
Study Arms (1)
DM1 patients
Patient cohort
Interventions
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
Standard 12-lead electrocardiography or Holter monitoring performed to assess cardiac conduction abnormalities and arrhythmias in patients with DM1.
Comprehensive pulmonary function testing including spirometry to assess respiratory muscle weakness and restrictive lung disease in DM1 patients.
Electrocardiography and 24-hour Holter monitoring
Skeletal muscle biopsy (residual specimen)
Wearable-device continuous physiological monitoring (heart rate, blood oxygen saturation, respiration, physical activity, sleep)
Video and voice recording for AI analysis (gait, hand grip, facial movement, speech)
Eligibility Criteria
The patients will be diagnosed and invited to join this trial in each participating neuromuscular diagnostic centers.
You may qualify if:
- 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.
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Huashan Hospitallead
Study Sites (22)
Chinese People's Liberation Army General Hospital
Beijing, Beijing Municipality, China
Peking University First Hospital
Beijing, Beijing Municipality, China
First Affiliated Hospital of Chongqing Medical University
Chongqing, Chongqing Municipality, China
Fujian Medical University Union Hospital
Fuzhou, Fujian, China
Southern Hospital of Southern Medical University
Guangzhou, Guangdong, China
The Third Hospital of Hebei Medical University
Shijiazhuang, Hebei, China
Wuhan University People's Hospital
Wuhan, Hubei, China
Zhongda Hospital Southeast University
Nanjing, Jiangsu, China
The First Affiliated Hospital of Soochow University
Suzhou, Jiangsu, China
The First People's Hospital of Yancheng
Yancheng, Jiangsu, China
The First Affiliated Hospital of Nanchang University）
Nanchang, Jiangxi, China
The First Bethune Hospital of Jilin University
Changchun, Jilin, China
Chifeng Municipal Hospital
Chifeng, Neimenggu, China
Qilu Hospital of Shandong University
Jinan, Shandong, China
Children's Hospital of Fudan University
Shanghai, Shanghai Municipality, China
First Hospital of Shanxi Medical University
Taiyuan, Shanxi, China
Xi'an Gaoxin Hospital
Xi’an, Shanxi, China
Xi'an People's Hospital
Xi’an, Shanxi, China
Sichuan Provincial People's Hospital
Chengdu, Sichuan, China
The General Hospital of Western Theater Command
Chengdu, Sichuan, China
Yunnan Provincial People's Hospital
Kunming, Yunnan, China
Huashan Hospital
Shanghai, 200040, China
Related Publications (1)
Zhong H, Zeng L, Yu X, Ke Q, Dong J, Chen Y, Luo L, Chang X, Guo J, Wang Y, Xiong H, Liu R, Liu C, Wu J, Lin J, Xi J, Zhu W, Tan S, Liu F, Lu J, Zhao C, Luo S. Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1. Orphanet J Rare Dis. 2024 Mar 7;19(1):103. doi: 10.1186/s13023-024-03114-z.
PMID: 38454488RESULT
Related Links
Biospecimen
Peripheral blood (plasma and leukocytes), skeletal muscle (residual biopsy tissue), myocardium (collected at pacemaker implantation when applicable), and urine.
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Chongbo Zhao, PhD
Huashan Hospital
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Target Duration
- 10 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Professor
Study Record Dates
First Submitted
August 2, 2021
First Posted
October 26, 2023
Study Start
August 1, 2021
Primary Completion (Estimated)
August 1, 2030
Study Completion (Estimated)
December 30, 2035
Last Updated
June 2, 2026
Record last verified: 2026-05
Data Sharing
- IPD Sharing
- Will not share
Individual participant data will not be shared publicly. The data are subject to China's Regulations on the Administration of Human Genetic Resources. All participant data are managed anonymously and identified by study number rather than name, and are accessible only to authorized study personnel.