A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

September 10, 2025 updated by: Chongbo Zhao, Huashan Hospital

A Multicenter Phenotype-Genotype Analysis of Type 1 Myotonic Dystrophy 1 Patients in China

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.

Study Overview

Status

Enrolling by invitation

Conditions

Intervention / Treatment

Detailed Description

This multicenter, prospective, observational study investigates the diagnosis and progression of Myotonic Dystrophy Type 1 (DM1) in Chinese patients through comprehensive data collection. The research protocol includes clinical assessments (strength evaluations, cognitive testing), diagnostic studies (genetic analysis, electromyography), imaging modalities (MRI, echocardiography, electrocardiography), functional evaluations (pulmonary function tests, posture and movement video analysis), and biological sampling (blood and muscle specimens). This integrated approach enables systematic characterization of DM1 manifestations across multiple organ systems, facilitating better understanding of disease progression patterns and potential biomarker identification in the Chinese population.

Study Type

Observational

Enrollment (Estimated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
      • Shanghai, China, 200040
        • Huashan Hospital
    • Beijing Municipality
      • Beijing, Beijing Municipality, China
        • Peking University First Hospital
      • Beijing, Beijing Municipality, China
        • Chinese People's Liberation Army General Hospital
    • Chongqing Municipality
      • Chongqing, Chongqing Municipality, China
        • First Affiliated Hospital of Chongqing Medical University
    • Fujian
      • Fuzhou, Fujian, China
        • Fujian Medical University Union Hospital
    • Guangdong
      • Guangzhou, Guangdong, China
        • Southern Hospital of Southern Medical University
    • Hebei
      • Shijiazhuang, Hebei, China
        • The Third Hospital of Hebei Medical University
    • Hubei
      • Wuhan, Hubei, China
        • Wuhan University People's Hospital
    • Jiangsu
      • Nanjing, Jiangsu, China
        • Zhongda Hospital Southeast University
      • Suzhou, Jiangsu, China
        • The First Affiliated Hospital of Soochow University
      • Yancheng, Jiangsu, China
        • The First People's Hospital of Yancheng
    • Jiangxi
      • Nanchang, Jiangxi, China
        • The First Affiliated Hospital of Nanchang University）
    • Jilin
      • Changchun, Jilin, China
        • The First Bethune Hospital of Jilin University
    • Neimenggu
      • Chifeng, Neimenggu, China
        • Chifeng Municipal Hospital
    • Shandong
      • Jinan, Shandong, China
        • Qilu Hospital of Shandong University
    • Shanghai Municipality
      • Shanghai, Shanghai Municipality, China
        • Children's Hospital of Fudan University
    • Shanxi
      • Taiyuan, Shanxi, China
        • First Hospital of Shanxi Medical University
      • Xi’an, Shanxi, China
        • Xi'an Gaoxin Hospital
      • Xi’an, Shanxi, China
        • Xi'an People's Hospital
    • Sichuan
      • Chengdu, Sichuan, China
        • Sichuan Provincial People's Hospital
      • Chengdu, Sichuan, China
        • The General Hospital of Western Theater Command
    • Yunnan
      • Kunming, Yunnan, China
        • Yunnan Provincial People's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

The patients will be diagnosed and invited to join this trial in each participating neuromuscular diagnostic centers.

Description

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
DM1 patients
Patient cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Changes in 10 Metre Walk Test (10MWT)
Time Frame: Baseline, Year 3, Year 5
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 Outcome Measures

Outcome Measure
Measure Description
Time Frame
Changes in ESS scale
Time Frame: Baseline, Year 3, Year 5
The Epworth Sleepiness Scale (ESS) measures the general level of daytime sleepiness. It is a subjective scale ranging from 0 to 24, asking the respondent to rate their propensity to doze off or fall asleep during eight common daily activities to assess the level of daytime sleepiness. A higher score on the ESS indicates a greater likelihood of daytime dozing.
Baseline, Year 3, Year 5
Changes in FSS scale
Time Frame: Baseline, Year 3, Year 5
The Fatigue Severity Scale (FSS) is a method for evaluating the impact of fatigue on the participant. The FSS questionnaire contains nine statements that rate the severity of the participant's fatigue symptoms, ranging from 7 to 63. A higher score indicates more severe fatigue symptoms in the participant.
Baseline, Year 3, Year 5
Changes in Video Hand Opening Time (vHOT)
Time Frame: Baseline, Year 1, Year 3, Year 5
The Video Hand Opening Time (vHOT) is a quantitative assessment tool used to measure the time required for patients with myotonic dystrophy to fully open their hands after making a fist. This test evaluates myotonia severity by recording the duration from the initiation of hand opening to complete finger extension. The measurement is performed using video recording to ensure accurate timing. vHOT serves as an objective biomarker for assessing myotonic symptoms and monitoring disease progression in patients with myotonic dystrophy. A longer vHOT indicates more severe myotonia and greater functional impairment.
Baseline, Year 1, Year 3, Year 5

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Huashan Hospital

Investigators

  • Study Director: Chongbo Zhao, PhD, Huashan Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 1, 2021

Primary Completion (Estimated)

August 1, 2030

Study Completion (Estimated)

December 30, 2032

Study Registration Dates

First Submitted

August 2, 2021

First Submitted That Met QC Criteria

October 20, 2023

First Posted (Actual)

October 26, 2023

Study Record Updates

Last Update Posted (Estimated)

September 16, 2025

Last Update Submitted That Met QC Criteria

September 10, 2025

Last Verified

September 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • KY2020-008

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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