A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China
Study Details
Study Description
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
This is a multicenter-based, prospective, observational study that primarily focuses on the diagnosis and progression of DM1 patients in China. The investigators collect patient data, including basic information, strength evaluations, genetic data, electromyography results, cognitive performance, and MRIs.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| DM1 patients Patient cohort |
Diagnostic Test: Brain MRI scan
Normal brain MRI scan to evaluate the integrity of the nervous system
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Outcome Measures
Primary Outcome Measures
- Changes in 10 Metre Walk Test (10MWT) [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 Outcome Measures
- Changes in ESS scale [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.
- Changes in 6-Minute Walk Test [Baseline, Year 3, Year 5]
The 6-Minute Walk Test is a sub-maximal exercise test used to assess aerobic capacity and endurance. The distance covered in 6 minutes serves as the outcome for comparing changes in performance capacity.
- Changes in FSS scale [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.
Eligibility Criteria
Criteria
Inclusion Criteria:
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Age between 18-80 years
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With enough cognitivie ability to understand the content and sign the informed consent form
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With CTG repeats >50 in DMPK gene, revealed by PCR test
Exclusion Criteria:
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Patients with severe mental illness, or severe anxiety and depression
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With comorbidities such as traumatic brain injury and cranial tumors
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A history of alcoholism, psychotropic substance abuse, etc.
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Patients with severe medical conditions and unstable vital signs that cannot tolerate the tests.
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Female in pregnancy
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Huashan Hospital | Shanghai | China | 200040 |
Sponsors and Collaborators
- Huashan Hospital
Investigators
- Study Director: Chongbo Zhao, PhD, Huashan Hospital
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- KY2020-008