A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China
1 other identifier
observational
500
1 country
22
Brief Summary
Myotonic dystrophy 1 (DM1) is an autosomal, dominantly inherited neuromuscular disorder characterized by skeletal muscle weakness, myotonia, cardiac conduction abnormalities, cataracts, and other abnormalities. This disease results from an expansion of a cytosine-thymine-guanine (CTG) trinucleotide repeat in the 3'-untranslated region of the dystrophia myotonica protein kinase (DMPK) gene on chromosome 19. Currently, there is limited phenotype and genotype data available for DM1 patients with Chinese Han ethnicity. Therefore, this study aims to fill this gap and provide complementary data.
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
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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, 2032
September 16, 2025
September 1, 2025
9 years
August 2, 2021
September 10, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Changes in 10 Metre Walk Test (10MWT)
The 10 Metre Walk Test is a performance measure used to assess walking speed in meters per second over a short distance. It can be employed to determine functional mobility, gait, and vestibular function
Baseline, Year 3, Year 5
Secondary Outcomes (3)
Changes in ESS scale
Baseline, Year 3, Year 5
Changes in FSS scale
Baseline, Year 3, Year 5
Changes in Video Hand Opening Time (vHOT)
Baseline, Year 1, Year 3, Year 5
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.
Eligibility Criteria
The patients will be diagnosed and invited to join this trial in each participating neuromuscular diagnostic centers.
You may qualify if:
- Age between 18-80 years
- With enough cognitivie ability to understand the content and sign the informed consent form
- With CTG repeats \>50 in DMPK gene, revealed by PCR test
You may not qualify if:
- Patients with severe mental illness, or severe anxiety and depression
- With comorbidities such as traumatic brain injury and cranial tumors
- A history of alcoholism, psychotropic substance abuse, etc.
- Patients with severe medical conditions and unstable vital signs that cannot tolerate the tests.
- Female in pregnancy
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
Biospecimen
Blood samples stored in liquid nitrogen and muscle samples preserved in ultra-low temperature freezers
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
- 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, 2032
Last Updated
September 16, 2025
Record last verified: 2025-09