- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT06101940
A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China
October 20, 2023 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 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 Type
Observational
Enrollment (Estimated)
300
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
-
-
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Shanghai, China, 200040
- Huashan Hospital
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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
|
Normal brain MRI scan to evaluate the integrity of the nervous system
|
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 6-Minute Walk Test
Time Frame: 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.
|
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
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
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, 2026
Study Completion (Estimated)
December 30, 2026
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 (Actual)
October 26, 2023
Last Update Submitted That Met QC Criteria
October 20, 2023
Last Verified
October 1, 2023
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
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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