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A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

NCT06101940 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2025-09-16

No results posted yet for this study

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.

Conditions

  • Myotonic Dystrophy 1

Interventions

DIAGNOSTIC_TEST

MRI scan

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

DIAGNOSTIC_TEST

Electrocardiography

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

DIAGNOSTIC_TEST

Pulmonary function test

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

Sponsors & Collaborators

  • Huashan Hospital

    lead OTHER

Principal Investigators

  • Chongbo Zhao, PhD · Huashan Hospital

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2021-08-01
Primary Completion
2030-08-01
Completion
2032-12-30

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06101940 on ClinicalTrials.gov