A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

• Conditions: Myotonic Dystrophy 1
• Interventions: Diagnostic Test: Brain MRI scan

• Registration Number: NCT06101940
• Lead Sponsor: Huashan Hospital

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 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 Timeline

• Study Start: 2021-08-01
• Study First Submitted: 2021-08-02
• Status Verified: 2023-10
• Study First Submitted QC: 2023-10-20
• Last Update Submitted: 2023-10-20
• Study First Posted: 2023-10-26
• Last Update Posted: 2023-10-26
• Primary Completion: 2026-08-01
• Study Completion: 2026-12-30

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 300

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
DM1 patients	Brain MRI scan	Patient cohort

Primary Outcome Measures

Name	Time	Method
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

Name	Time	Method
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 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 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.

Trial Locations

Locations (1)

Huashan Hospital; 🇨🇳 Shanghai, China