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

Enrolling by invitation

Conditions studied: Myotonic Dystrophy 1

In brief

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.

Key facts

Study ID

NCT06101940

Run by

Huashan Hospital

People needed

1000

Starts

2021-08-01

Expected to finish

2035-12-30

Last updated by the study team

2026-06-02

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

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.

Where it is running

• 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, China

Full record on ClinicalTrials.gov

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