A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

N/AEnrolling By InvitationNCT06101940

Huashan Hospital500 enrolled

Overview

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.

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

500

Conditions

Myotonic Dystrophy 1

Interventions

MRI scanDIAGNOSTIC_TEST

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

ElectrocardiographyDIAGNOSTIC_TEST

Standard 12-lead electrocardiography or Holter monitoring performed to assess cardiac conduction abnormalities and arrhythmias in patients with DM1.

Pulmonary function testDIAGNOSTIC_TEST

Comprehensive pulmonary function testing including spirometry to assess respiratory muscle weakness and restrictive lung disease in DM1 patients.

Eligibility

Sex: ALLMin age: 18 YearsMax age: 80 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (22)

Chinese People's Liberation Army General Hospital

Beijing, Beijing Municipality, China

Outcomes

Primary Outcomes

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

Time frame: Baseline, Year 3, Year 5

Secondary Outcomes

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.

Time frame: Baseline, Year 3, Year 5

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.

Time frame: Baseline, Year 3, Year 5

Changes in Video Hand Opening Time (vHOT)

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.

Time frame: Baseline, Year 1, Year 3, Year 5

Data from ClinicalTrials.gov

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