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Clinical Trial Details — Status: Enrolling by invitation

Administrative data

NCT number NCT06101940
Other study ID # KY2020-008
Secondary ID
Status Enrolling by invitation
Phase
First received
Last updated
Start date August 1, 2021
Est. completion date December 30, 2026

Study information

Verified date October 2023
Source Huashan Hospital
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Enrolling by invitation
Enrollment 300
Est. completion date December 30, 2026
Est. primary completion date August 1, 2026
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group 18 Years to 80 Years
Eligibility 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 Design


Related Conditions & MeSH terms


Intervention

Diagnostic Test:
Brain MRI scan
Normal brain MRI scan to evaluate the integrity of the nervous system

Locations

Country Name City State
China Huashan Hospital Shanghai

Sponsors (1)

Lead Sponsor Collaborator
Huashan Hospital

Country where clinical trial is conducted

China, 

Outcome

Type Measure Description Time frame Safety issue
Primary 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 Changes in ESS scale 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
Secondary Changes in 6-Minute Walk Test 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. Baseline, Year 3, Year 5
Secondary Changes in FSS scale 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
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