A Multicenter Phenotype-Genotype Analysis of DM1 Patients in China

Status Enrolling by invitation

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.

Clinical Trial 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 Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT06101940
Study type	Observational
Source	Huashan Hospital
Contact
Status	Enrolling by invitation
Phase
Start date	August 1, 2021
Completion date	December 30, 2026

View Details

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