Myotonic Dystrophy 1C-DMCOS-DM1NCT06101940
Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)
An observational study of Myotonic Dystrophy 1, run by Huashan Hospital at 22 sites in China.
Trial 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… Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Myotonic Dystrophy 1
- What is being tested?
- MRI scan, Electrocardiography and Pulmonary function test
- Type of treatment
- Medical device, Surgery or procedure, Lifestyle or therapy programme
- How many people
- 1,000 participants
- Where
- 22 sitesChina
- Study dates
- 1 Aug 2021to 30 Dec 2035
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The patients will be diagnosed and invited to join this trial in each participating neuromuscular diagnostic centers.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
22 sites in 1 country. Contact the study team or a site near you to ask about taking part.
22 sites in 1 country
China22 sites
Chinese People's Liberation Army General Hospital
Beijing, Beijing Municipality
Peking University First Hospital
Beijing, Beijing Municipality
The First Bethune Hospital of Jilin University
Changchun, Jilin
Sichuan Provincial People's Hospital
Chengdu, Sichuan
The General Hospital of Western Theater Command
Chengdu, Sichuan
Chifeng Municipal Hospital
Chifeng, Neimenggu
First Affiliated Hospital of Chongqing Medical University
Chongqing, Chongqing Municipality
Fujian Medical University Union Hospital
Fuzhou, Fujian
Southern Hospital of Southern Medical University
Guangzhou, Guangdong
Qilu Hospital of Shandong University
Jinan, Shandong
Yunnan Provincial People's Hospital
Kunming, Yunnan
The First Affiliated Hospital of Nanchang University）
Nanchang, Jiangxi
Zhongda Hospital Southeast University
Nanjing, Jiangsu
Children's Hospital of Fudan University
Shanghai, Shanghai Municipality
Huashan Hospital
Shanghai, 200040
The Third Hospital of Hebei Medical University
Shijiazhuang, Hebei
The First Affiliated Hospital of Soochow University
Suzhou, Jiangsu
First Hospital of Shanxi Medical University
Taiyuan, Shanxi
Wuhan University People's Hospital
Wuhan, Hubei
Xi'an Gaoxin Hospital
Xi’an, Shanxi
Xi'an People's Hospital
Xi’an, Shanxi
The First People's Hospital of Yancheng
Yancheng, Jiangsu
About this study
Official 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)
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.
Read the detailed description
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.
- Conditions
- Myotonic Dystrophy 1
- Being tested
- MRI scan, Electrocardiography, Pulmonary function test, Electrocardiography and 24-hour Holter monitoring, Skeletal muscle biopsy (residual specimen)
- Keywords
- Observational, DMPK, clinical outcomes, multi-system involvement
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MRI scanDiagnostic 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
ElectrocardiographyDiagnostic test
Standard 12-lead electrocardiography or Holter monitoring performed to assess cardiac conduction abnormalities and arrhythmias in patients with DM1.
Pulmonary function testDiagnostic test
Comprehensive pulmonary function testing including spirometry to assess respiratory muscle weakness and restrictive lung disease in DM1 patients.
Electrocardiography and 24-hour Holter monitoringDiagnostic test
Electrocardiography and 24-hour Holter monitoring
Skeletal muscle biopsy (residual specimen)Procedure or surgery
Skeletal muscle biopsy (residual specimen)
Wearable-device continuous physiological monitoringDevice
Wearable-device continuous physiological monitoring (heart rate, blood oxygen saturation, respiration, physical activity, sleep)
Video and voice recording for AI analysisBehavioural
Video and voice recording for AI analysis (gait, hand grip, facial movement, speech)
| Study group | Role | What they receive |
|---|---|---|
| DM1 patients | Patient cohort Receives: Diagnostic Test: MRI scan; Diagnostic Test: Electrocardiography; Diagnostic Test: Pulmonary function test; Diagnostic Test: Electrocardiography and 24-hour Holter monitoring; Procedure: Skeletal muscle biopsy (residual specimen); Device: Wearable-device continuous physiological monitoring; Behavioral: Video and voice recording for AI analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: From enrollment up to 10 years
Secondary outcomes (6)
Change in 10-Metre Walk Test (10MWT)
Time in seconds to walk 10 metres, assessing functional mobility.
Measured: Baseline, Year 1, Year 3, Year 5, Year 10
Change in Video Hand Opening Time (vHOT)
Time to fully open the hand after making a fist, an objective measure of myotonia severity.
Measured: Baseline, Year 1, Year 3, Year 5, Year 10
Change in Muscular Impairment Rating Scale (MIRS)
Five-point clinical rating of muscle impairment in DM1.
Measured: Baseline, Year 1, Year 3, Year 5, Year 10
Change in forced vital capacity (FVC, % predicted)
Pulmonary function measure reflecting respiratory involvement.
Measured: Baseline, Year 1, Year 3, Year 5, Year 10
Change in Epworth Sleepiness Scale (ESS)
0 to 24 scale of daytime sleepiness; higher scores indicate greater sleepiness.
Measured: Baseline, Year 1, Year 3, Year 5, Year 10
Change in Fatigue Severity Scale (FSS)
9-item fatigue scale; higher scores indicate more severe fatigue.
Measured: Baseline, Year 1, Year 3, Year 5, Year 10
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Oct 2023
- Study start1 Aug 2021
- Primary completion1 Aug 2030 (estimated)
- Study completion30 Dec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Myotonic Dystrophy 1Studies of the same condition, open and under way.
- More trials run by Huashan HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Huashan Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Chongbo Zhao, Huashan Hospital
- Investigators
- Chongbo Zhao, PhD, Study director, Huashan Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06101940
- Sponsor's protocol ID
- KY2020-008
- Acronym
- C-DMCOS-DM1
- Status last verified
- May 2026
- First submitted
- 2 Aug 2021
- Last updated
- 2 Jun 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: 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.
Publications
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.
PubMed 38454488
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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)
- ClinicalTrials.gov ID
- NCT06101940
- Acronym / sponsor ID
- C-DMCOS-DM1 / KY2020-008
- Conditions
- Myotonic Dystrophy 1
- Keywords
- Observational, DMPK, clinical outcomes, multi-system involvement
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Huashan HospitalUniversity, hospital or other
- Study start
- 1 Aug 2021 (actual)
- Primary completion
- 1 Aug 2030 (estimated)
- Study completion
- 30 Dec 2035 (estimated)
- First posted
- 26 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| DM1 patients | – | Diagnostic Test: MRI scan, Diagnostic Test: Electrocardiography, Diagnostic Test: Pulmonary function test, Diagnostic Test: Electrocardiography and 24-hour Holter monitoring, Procedure: Skeletal muscle biopsy (residual specimen), Device: Wearable-device continuous physiological monitoring, Behavioral: Video and voice recording for AI analysisPatient cohort |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The patients will be diagnosed and invited to join this trial in each participating neuromuscular diagnostic centers.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MRI scanBrain 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 | DM1 patients |
| ElectrocardiographyStandard 12-lead electrocardiography or Holter monitoring performed to assess cardiac conduction abnormalities and arrhythmias in patients with DM1. | Diagnostic test | DM1 patients |
| Pulmonary function testComprehensive pulmonary function testing including spirometry to assess respiratory muscle weakness and restrictive lung disease in DM1 patients. | Diagnostic test | DM1 patients |
| Electrocardiography and 24-hour Holter monitoringElectrocardiography and 24-hour Holter monitoring | Diagnostic test | DM1 patients |
| Skeletal muscle biopsy (residual specimen)Skeletal muscle biopsy (residual specimen) | Procedure or surgery | DM1 patients |
| Wearable-device continuous physiological monitoringWearable-device continuous physiological monitoring (heart rate, blood oxygen saturation, respiration, physical activity, sleep) | Device | DM1 patients |
| Video and voice recording for AI analysisVideo and voice recording for AI analysis (gait, hand grip, facial movement, speech) | Behavioural | DM1 patients |
Primary outcome
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.
6 secondary outcomes
Change in 10-Metre Walk Test (10MWT)
Time frame: Baseline, Year 1, Year 3, Year 5, Year 10
Change in Video Hand Opening Time (vHOT)
Time frame: Baseline, Year 1, Year 3, Year 5, Year 10
Change in Muscular Impairment Rating Scale (MIRS)
Time frame: Baseline, Year 1, Year 3, Year 5, Year 10
Change in forced vital capacity (FVC, % predicted)
Time frame: Baseline, Year 1, Year 3, Year 5, Year 10
Change in Epworth Sleepiness Scale (ESS)
Time frame: Baseline, Year 1, Year 3, Year 5, Year 10
Change in Fatigue Severity Scale (FSS)
Time frame: Baseline, Year 1, Year 3, Year 5, Year 10
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jun 2026.
- Results publication: PubMed 38454488Zhong 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.
- Related InfoLink provided by the sponsor.
- Individual participant dataSharing planned: No. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Chongbo Zhao, PhD study director
Huashan Hospital
22 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Myotonic Dystrophy 1, run by Huashan Hospital at 22 sites in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 2 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 22 sites in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Cumulative incidence and time to first major disability-related clinical outcome event (time frame: From enrollment up to 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06101940, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jun 2026.