A Multicenter Phenotype-Genotype Analysis of Type 1 Myotonic Dystrophy 1 Patients in China
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Not specified
- Sponsor
- Huashan Hospital
- Enrollment
- 500
- Locations
- 1
- Primary Endpoint
- Changes in 10 Metre Walk Test (10MWT)
- Status
- Enrolling By Invitation
- Last Updated
- 7 months ago
Overview
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.
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.
Investigators
Chongbo Zhao
Professor
Huashan Hospital
Eligibility Criteria
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
Outcomes
Primary Outcomes
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
Secondary Outcomes
- 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)